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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SLC43A1	8501	broad.mit.edu	37	11	57256464	57256464	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:57256464T>A	ENST00000278426.3	-	13	1691		c.e13-2		SLC43A1_ENST00000528450.1_Splice_Site	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1						cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GGTCACAAACTAAAACCAAAA	0.532000													4	144					0	0	1	0	0
PHGDH	26227	broad.mit.edu	37	1	120277981	120277981	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:120277981G>A	ENST00000369407.3	+	6	2112	c.605G>A	c.(604-606)cGt>cAt	p.R202H	PHGDH_ENST00000369409.4_Missense_Mutation_p.R236H			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	236					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	AACTGTGCCCGTGGAGGGATC	0.617000													6	376					0	0	1	0	0
C16orf71	146562	broad.mit.edu	37	16	4787820	4787820	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:4787820A>C	ENST00000299320.5	+	3	627	c.149A>C	c.(148-150)gAg>gCg	p.E50A	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.E50A	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	50										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GGGGAAGAGGAGCTGTTCATC	0.597000													22	90					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156932774	156932774	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:156932774G>A	ENST00000257527.4	-	11	1111	c.1033C>T	c.(1033-1035)Cac>Tac	p.H345Y	ADAM19_ENST00000517905.1_Missense_Mutation_p.H345Y|ADAM19_ENST00000430702.2_Missense_Mutation_p.H78Y|ADAM19_ENST00000394020.1_Missense_Mutation_p.H347Y	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	345	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCCATCTCGTGGGCCATGGTG	0.602000													10	60					0	0	1	0	0
ARNT2	9915	broad.mit.edu	37	15	80845046	80845046	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:80845046G>A	ENST00000533983.1	+	11	1326	c.987G>A	c.(985-987)cgG>cgA	p.R329R	ARNT2_ENST00000527771.1_Silent_p.R329R|ARNT2_ENST00000303329.4_Silent_p.R340R			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	340	PAS 2.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TCTTATCCCGGCATAACTCCG	0.483000													5	632					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31241191	31241191	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:31241191G>T	ENST00000357033.4	-	64	9540	c.9334C>A	c.(9334-9336)Ctc>Atc	p.L3112I	DMD_ENST00000343523.2_Missense_Mutation_p.L652I|DMD_ENST00000378723.3_Missense_Mutation_p.L44I|DMD_ENST00000378680.2_Missense_Mutation_p.L44I|DMD_ENST00000378702.4_Missense_Mutation_p.L44I|DMD_ENST00000541735.1_Missense_Mutation_p.L652I|DMD_ENST00000378707.3_Missense_Mutation_p.L652I|DMD_ENST00000378677.2_Missense_Mutation_p.L3108I|DMD_ENST00000361471.4_Missense_Mutation_p.L44I|DMD_ENST00000359836.1_Missense_Mutation_p.L652I|DMD_ENST00000474231.1_Missense_Mutation_p.L652I	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3112	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGTCTTCGGAGTTTCATGGCA	0.383000													68	87					1.3913e-53	1.6195e-53	1	1	0
TTC17	55761	broad.mit.edu	37	11	43425546	43425546	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:43425546A>T	ENST00000039989.4	+	11	1346		c.e11-1		TTC17_ENST00000526774.1_Splice_Site|TTC17_ENST00000299240.6_Splice_Site	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17								binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTCATTTTCTAGTTTGGTGAG	0.333000													4	87					0	0	1	0	0
TRIM68	55128	broad.mit.edu	37	11	4626621	4626621	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:4626621G>T	ENST00000300747.5	-	2	403	c.114C>A	c.(112-114)agC>agA	p.S38R		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	38					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CAGAGAGACAGCTGTGGCAGA	0.577000													4	226					0.150653	0.152036	1	1	0
MTFR1	9650	broad.mit.edu	37	8	66621209	66621209	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:66621209A>T	ENST00000262146.4	+	8	1059		c.e8-1		MTFR1_ENST00000458689.2_Splice_Site	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1							mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GTTTGTTTCTAGTTTGGGCCA	0.403000													4	87					0	0	1	0	0
RMI1	80010	broad.mit.edu	37	9	86615864	86615864	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:86615864A>T	ENST00000325875.3	+	3	296		c.e3-1			NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1						DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TTTTGTTTTCAGGTAATAGAT	0.294000													3	35					0	0	1	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183341	11183341	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:11183341T>A	ENST00000390675.2	-	1	665	c.594A>T	c.(592-594)ttA>ttT	p.L198F	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	198					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						GAGAACAGATTAACAGCAAAA	0.438000													8	557					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108124598	108124598	+	Silent	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:108124598T>C	ENST00000278616.4	+	13	2341	c.1956T>C	c.(1954-1956)ttT>ttC	p.F652F	ATM_ENST00000452508.2_Silent_p.F652F	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	652					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AAGAACTATTTCTTCAGACAA	0.348000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			4	115					0	0	1	0	0
WDTC1	23038	broad.mit.edu	37	1	27621085	27621085	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:27621085G>C	ENST00000319394.3	+	9	1373	c.838G>C	c.(838-840)Ggc>Cgc	p.G280R	WDTC1_ENST00000361771.3_Missense_Mutation_p.G280R	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	280							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CAGCCCCAATGGCACAGAGCT	0.552000													32	59					0	0	1	0	0
AADACL3	126767	broad.mit.edu	37	1	12785730	12785730	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:12785730G>C	ENST00000332530.3	+	3	836	c.610G>C	c.(610-612)Gac>Cac	p.D204H	AADACL3_ENST00000359318.5_Missense_Mutation_p.D274H	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	274							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGCAGAAGATGACATAGTGTC	0.507000													89	309					0	0	1	0	0
CAST	831	broad.mit.edu	37	5	96101025	96101025	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:96101025T>A	ENST00000395813.1	+	26	2219	c.2033T>A	c.(2032-2034)gTa>gAa	p.V678E	CAST_ENST00000395812.2_Missense_Mutation_p.V637E|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000309190.5_Missense_Mutation_p.V573E|CAST_ENST00000515663.1_Missense_Mutation_p.V318E|ERAP1_ENST00000296754.3_Intron|CAST_ENST00000509903.1_Missense_Mutation_p.V560E|CAST_ENST00000508830.1_Missense_Mutation_p.V678E|CAST_ENST00000341926.3_Missense_Mutation_p.V595E|CAST_ENST00000508608.1_Missense_Mutation_p.V641E|CAST_ENST00000325674.7_Missense_Mutation_p.V643E|CAST_ENST00000511049.1_Missense_Mutation_p.V580E|CAST_ENST00000338252.3_Missense_Mutation_p.V582E|CAST_ENST00000508579.1_Missense_Mutation_p.V310E|CAST_ENST00000510756.1_Missense_Mutation_p.V656E|CAST_ENST00000511782.1_Missense_Mutation_p.V581E|CAST_ENST00000504465.1_Missense_Mutation_p.V523E|CAST_ENST00000359176.4_Missense_Mutation_p.V659E			P20810	ICAL_HUMAN	calpastatin	595							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		GAAGATAAAGTAAAGGTaaaa	0.348000													8	82					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152323924	152323924	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:152323924A>C	ENST00000388718.5	-	3	6410	c.6338T>G	c.(6337-6339)gTg>gGg	p.V2113G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2113							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGAGTGCACTTCACTGTC	0.532000													25	2251					0	0	1	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59499176	59499176	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:59499176A>T	ENST00000307144.4	+	1	135	c.37A>T	c.(37-39)Aga>Tga	p.R13*	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	13					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	GGCCAGCCAGAGAGTGAGCTC	0.587000													7	19					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692925	135692925	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:135692925C>T	ENST00000513104.1	-	2	433	c.151G>A	c.(151-153)Gct>Act	p.A51T	TRPC7_ENST00000426057.2_Missense_Mutation_p.A51T|TRPC7_ENST00000355180.3_Missense_Mutation_p.A51T	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	51					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCATACTCAGCCGAGTCCAGG	0.607000													177	228					0	0	1	0	0
CPLX2	10814	broad.mit.edu	37	5	175306865	175306865	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:175306865G>T	ENST00000359546.4	+	5	865	c.222G>T	c.(220-222)aaG>aaT	p.K74N	CPLX2_ENST00000393745.3_Missense_Mutation_p.K74N|CPLX2_ENST00000515094.1_Missense_Mutation_p.K74N	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	74	Interaction with the SNARE complex (By similarity).				mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGCTGAAGAAGAAGGAGGAGA	0.647000													79	45					9.35349e-44	1.07737e-43	1	1	0
LPHN1	22859	broad.mit.edu	37	19	14273947	14273947	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:14273947C>T	ENST00000340736.6	-	6	978	c.681G>A	c.(679-681)aaG>aaA	p.K227K	LPHN1_ENST00000591528.1_5'UTR|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Silent_p.K222K|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	227	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCGTGCGCTCCTTGTTGTAGA	0.607000													3	147					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109378555	109378555	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:109378555A>T	ENST00000283195.6	+	19	2728		c.e19-1			NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTGTTTTTTTAGTTGCAACTA	0.333000													5	75					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27008349	27008349	+	Silent	SNP	C	C	T	rs62066801		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:27008349C>T	ENST00000314616.6	+	12	1708	c.1425C>T	c.(1423-1425)atC>atT	p.I475I	SUPT6H_ENST00000347486.4_Silent_p.I475I	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	475					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GCCGAGACATCCCTAAGATGC	0.448000													4	331					0	0	1	0	0
CD34	947	broad.mit.edu	37	1	208062058	208062058	+	Missense_Mutation	SNP	C	C	T	rs146542924		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:208062058C>T	ENST00000356522.4	-	7	1262	c.941G>A	c.(940-942)cGc>cAc	p.R314H	CD34_ENST00000310833.7_Missense_Mutation_p.R314H|CD34_ENST00000367036.3_Missense_Mutation_p.R156H|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000537704.1_Missense_Mutation_p.R179H	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	314					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CCAGCTGCGGCGATTCATCAG	0.562000													11	1204					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49957789	49957789	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:49957789A>T	ENST00000376056.2	-	5	1698	c.1548T>A	c.(1546-1548)aaT>aaA	p.N516K	AKAP4_ENST00000358526.2_Missense_Mutation_p.N525K|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Missense_Mutation_p.N516K|AKAP4_ENST00000376058.2_Intron			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	525					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TCTCATCTTTATTGCTGCATG	0.473000													9	721					0	0	1	0	0
CCDC18	343099	broad.mit.edu	37	1	93649533	93649533	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:93649533A>T	ENST00000343253.7	+	3	636		c.e3-1		CCDC18_ENST00000557479.1_Splice_Site|CCDC18_ENST00000334652.5_Splice_Site|CCDC18_ENST00000338949.4_Splice_Site|CCDC18_ENST00000401026.3_Splice_Site			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18											breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TTTTTTCTCTAGTGTTAGTCC	0.328000													7	118					0	0	1	0	0
PRDM4	11108	broad.mit.edu	37	12	108127989	108127989	+	Nonstop_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:108127989A>T	ENST00000228437.5	-	12	2863	c.2404T>A	c.(2404-2406)Taa>Aaa	p.*802K		NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	0					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TTTTCCTTTTATTTATGTGCA	0.358000													10	192					0	0	1	0	0
NVL	4931	broad.mit.edu	37	1	224463162	224463162	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:224463162T>A	ENST00000281701.6	-	17	2222		c.e17-2		NVL_ENST00000391875.2_Splice_Site|NVL_ENST00000340871.4_Splice_Site|NVL_ENST00000361463.3_Splice_Site|NVL_ENST00000482491.1_Splice_Site|NVL_ENST00000469075.1_Splice_Site	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like							aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		ACCAACATACTAAACATACAC	0.368000													11	442					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281389	152281389	+	Silent	SNP	C	C	T	rs138652718	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:152281389C>T	ENST00000368799.1	-	3	6008	c.5973G>A	c.(5971-5973)gcG>gcA	p.A1991A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1991	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGGGATGACGCAGCCTGTC	0.572000									Ichthyosis				10	1035					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31317480	31317480	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:31317480A>T	ENST00000265071.2	+	10	1777		c.e10-1		CDH6_ENST00000514738.1_Splice_Site	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)						adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTTTTCTCTTAGTTGATTCAG	0.368000													7	220					0	0	1	0	0
POLK	51426	broad.mit.edu	37	5	74889874	74889874	+	Splice_Site	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:74889874G>A	ENST00000241436.4	+	12	1700	c.1528_splice	c.e12+1	p.G510_splice	POLK_ENST00000380481.3_Splice_Site_p.G420_splice|POLK_ENST00000508526.1_Intron|POLK_ENST00000352007.5_Intron|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000504026.1_Intron	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	510					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AAGGCTTATGGGTATGACTTT	0.353000								DNA polymerases (catalytic subunits)					116	57					0	0	1	0	0
SEPT12	124404	broad.mit.edu	37	16	4834040	4834040	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:4834040T>C	ENST00000268231.8	-	5	667	c.404A>G	c.(403-405)gAg>gGg	p.E135G	SEPT12_ENST00000396693.5_Intron	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	135					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CTCGTATTGCTCGTTGATGTA	0.622000													4	426					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152314353	152314353	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:152314353C>G	ENST00000243326.4	+	23	3214	c.2731C>G	c.(2731-2733)Caa>Gaa	p.Q911E	RIF1_ENST00000444746.2_Missense_Mutation_p.Q911E|RIF1_ENST00000453091.2_Missense_Mutation_p.Q911E|RIF1_ENST00000428287.2_Missense_Mutation_p.Q911E|RIF1_ENST00000430328.2_Missense_Mutation_p.Q911E			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	911					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ACTTCTTGAACAACTCTCCCC	0.363000													8	87					0	0	1	0	0
CCDC181	57821	broad.mit.edu	37	1	169390632	169390632	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:169390632A>T	ENST00000545005.1	-	4	1544	c.1037T>A	c.(1036-1038)cTa>cAa	p.L346Q	CCDC181_ENST00000367805.3_Missense_Mutation_p.L346Q|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Missense_Mutation_p.L346Q					coiled-coil domain containing 181																		CTTTTCTTCTAGTTGTTTTTG	0.368000													8	169					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72831569	72831569	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:72831569G>A	ENST00000268489.5	-	9	5684	c.5012C>T	c.(5011-5013)gCt>gTt	p.A1671V	ZFHX3_ENST00000397992.5_Missense_Mutation_p.A757V	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1671					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGCAATGCCAGCACTGCTTGG	0.542000													5	455					0	0	1	0	0
AP1S3	130340	broad.mit.edu	37	2	224640714	224640714	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:224640714T>A	ENST00000443700.1	-	3	346	c.195A>T	c.(193-195)ttA>ttT	p.L65F	AP1S3_ENST00000396654.2_Missense_Mutation_p.L65F|AP1S3_ENST00000409375.1_Missense_Mutation_p.L65F|AP1S3_ENST00000396653.2_Intron|AP1S3_ENST00000446015.2_Missense_Mutation_p.L65F|AP1S3_ENST00000423110.1_Missense_Mutation_p.L65F			Q96PC3	AP1S3_HUMAN	adaptor-related protein complex 1, sigma 3 subunit	65					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane coat	protein transporter activity			NS(1)|breast(1)|lung(2)	4		Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272)		Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902)		AGCAAAAATATAAACTAGCAT	0.368000													5	113					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62168046	62168046	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:62168046T>A	ENST00000261517.5	-	76	10298		c.e76-2		VPS13C_ENST00000558919.1_Splice_Site|VPS13C_ENST00000395896.4_Splice_Site|VPS13C_ENST00000249837.3_Splice_Site|VPS13C_ENST00000395898.3_Splice_Site	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)						protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTTCAAGAACTAAAAAAGAAA	0.289000													4	32					0	0	1	0	0
CASQ1	844	broad.mit.edu	37	1	160160577	160160577	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:160160577G>A	ENST00000368079.3	+	1	293	c.18G>A	c.(16-18)gtG>gtA	p.V6V	CASQ1_ENST00000368078.3_Silent_p.V12V	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	12						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCAGAGCTGTGCCGGGTCTGC	0.627000													20	120					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24854824	24854824	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:24854824T>A	ENST00000313367.2	-	19	2479		c.e19-2		OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000352860.1_Splice_Site|OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000409069.1_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site|OSBPL3_ENST00000396429.1_Splice_Site	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3						lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TCCCCAAAACTAAAAAGAAGG	0.378000													8	204					0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56642010	56642010	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:56642010T>A	ENST00000267116.7	-	18	1898		c.e18-2			NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52								protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GTTGTAGGCCTGGCAAGGTGC	0.612000													4	409					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109688314	109688314	+	Silent	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:109688314T>A	ENST00000277225.5	+	3	2410	c.2121T>A	c.(2119-2121)atT>atA	p.I707I	ZNF462_ENST00000457913.1_Silent_p.I707I			Q96JM2	ZN462_HUMAN	zinc finger protein 462	707					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGAGCAAAATTAACCAAACCA	0.458000													5	305					0	0	1	0	0
EDEM2	55741	broad.mit.edu	37	20	33722751	33722751	+	Splice_Site	SNP	G	G	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:33722751G>C	ENST00000540582.1	-	10	1090	c.367_splice	c.e10-1	p.A123_splice	EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000374491.2_Splice_Site_p.A127_splice|EDEM2_ENST00000374492.3_Splice_Site_p.A164_splice			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	164					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GGGTCTGAAAGGCTGAACAAT	0.542000													10	247					0	0	1	0	0
HIST2H2BF	440689	broad.mit.edu	37	1	149783718	149783718	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:149783718C>T	ENST00000427880.2	-	1	207	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.G54D|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.G54D			Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	54					nucleosome assembly	nucleosome|nucleus	DNA binding	p.G54D(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					GGACGAGATGCCGGTGTCGGG	0.597000													12	1028					0	0	1	0	0
PDLIM4	8572	broad.mit.edu	37	5	131598428	131598428	+	Missense_Mutation	SNP	G	G	T	rs138635559		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:131598428G>T	ENST00000253754.3	+	2	284	c.220G>T	c.(220-222)Gat>Tat	p.D74Y	PDLIM4_ENST00000379018.3_Missense_Mutation_p.D74Y|P4HA2_ENST00000471826.1_Intron	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	74	PDZ.						protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGCTGCCACGATCACCTCAC	0.597000													23	76					4.43304e-23	4.97586e-23	1	1	0
TNRC6B	23112	broad.mit.edu	37	22	40662685	40662685	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:40662685T>A	ENST00000454349.2	+	5	2662	c.2451T>A	c.(2449-2451)aaT>aaA	p.N817K	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.8_Missense_Mutation_p.N817K|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	817					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						ATTCCTGGAATAAACAACACC	0.592000													5	220					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48511107	48511107	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:48511107A>T	ENST00000446524.1	+	1	839	c.763A>T	c.(763-765)Atg>Ttg	p.M255L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TTGTATTTTTATGTATGCTAG	0.428000													8	665					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113374871	113374871	+	Silent	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:113374871A>T	ENST00000316407.4	-	7	6068	c.5658T>A	c.(5656-5658)atT>atA	p.I1886I	KIAA2018_ENST00000478658.1_Silent_p.I1886I|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1886					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TCCTGGTGTTAATTGCACCTA	0.393000													5	132					0	0	1	0	0
MGEA5	10724	broad.mit.edu	37	10	103559214	103559214	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:103559214T>A	ENST00000361464.3	-	9	1591		c.e9-2		MGEA5_ENST00000439817.1_Splice_Site|MGEA5_ENST00000357797.5_Splice_Site|MGEA5_ENST00000370094.3_Splice_Site	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)						glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CTTGCCTACCTACAAAAATAA	0.348000													5	97					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111694794	111694794	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:111694794A>T	ENST00000435970.1	-	15	5346	c.4530T>A	c.(4528-4530)agT>agA	p.S1510R	REV3L_ENST00000358835.3_Missense_Mutation_p.S1588R|REV3L_ENST00000368802.3_Missense_Mutation_p.S1588R|REV3L_ENST00000368805.1_Missense_Mutation_p.S1588R			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1588					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTTGTTTTGTACTTCTGGGAG	0.368000								DNA polymerases (catalytic subunits)					5	187					0	0	1	0	0
OR4D1	26689	broad.mit.edu	37	17	56232618	56232618	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:56232618A>T	ENST00000268912.5	+	1	125	c.104A>T	c.(103-105)tAt>tTt	p.Y35F		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						CTGTTAGTCTATGTTACCACC	0.463000													5	420					0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6457292	6457292	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:6457292C>T	ENST00000358945.3	-	13	2263	c.1823G>A	c.(1822-1824)cGa>cAa	p.R608Q	SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000228916.2_Missense_Mutation_p.R586Q|SCNN1A_ENST00000360168.3_Missense_Mutation_p.R645Q|SCNN1A_ENST00000543768.1_Missense_Mutation_p.R609Q|SCNN1A_ENST00000540037.1_Missense_Mutation_p.R286Q			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	586					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	TCGGAACCTTCGGAGCAGCAT	0.622000													6	65					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9578180	9578180	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:9578180A>T	ENST00000301480.4	-	10	1656	c.1443T>A	c.(1441-1443)agT>agA	p.S481R		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GTCCTGTGTTACTTCTTCTAT	0.408000													12	454					0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36383156	36383156	+	Splice_Site	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr13:36383156C>A	ENST00000255448.4	-	13	1976	c.1766_splice	c.e13+1	p.G589_splice	DCLK1_ENST00000379893.1_Splice_Site_p.G282_splice|DCLK1_ENST00000360631.3_Splice_Site_p.G589_splice	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	589	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TGCCCATACCCACGGAATGGA	0.478000													5	251					0.00198382	0.00205868	1	1	0
KAT6B	23522	broad.mit.edu	37	10	76748798	76748798	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:76748798T>A	ENST00000287239.4	+	13	3046	c.2557T>A	c.(2557-2559)Tat>Aat	p.Y853N	KAT6B_ENST00000372711.1_Missense_Mutation_p.Y670N|KAT6B_ENST00000372714.1_Missense_Mutation_p.Y561N|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372724.1_Missense_Mutation_p.Y561N|KAT6B_ENST00000372725.1_Missense_Mutation_p.Y561N	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	853	Catalytic.|Interaction with BRPF1.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CCAGCAGAAGTATAATGTCTC	0.448000													42	197					0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47099251	47099251	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:47099251G>A	ENST00000377107.2	+	4	834	c.480G>A	c.(478-480)cgG>cgA	p.R160R	USP11_ENST00000218348.3_Silent_p.R203R			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	203	DUSP.			A -> R (in Ref. 3; BAC20463).	protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TGCTTGTCCGGCACAATGATT	0.498000													5	590					0	0	1	0	0
NR6A1	2649	broad.mit.edu	37	9	127289057	127289057	+	Splice_Site	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:127289057C>T	ENST00000487099.2	-	8	1359		c.e8+1		NR6A1_ENST00000416460.2_Splice_Site|NR6A1_ENST00000344523.4_Splice_Site|NR6A1_ENST00000373584.3_Splice_Site	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1						cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						CAGCCACTCACCTTGATTTAG	0.512000													6	301					0	0	1	0	0
GLCCI1	113263	broad.mit.edu	37	7	8126006	8126006	+	Silent	SNP	T	T	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:8126006T>G	ENST00000223145.5	+	8	2039	c.1482T>G	c.(1480-1482)gtT>gtG	p.V494V		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	494										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CTCTGACCGTTGAGCAGCTCT	0.557000													176	570					0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49847308	49847308	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:49847308G>T	ENST00000333486.3	-	15	2002	c.1844C>A	c.(1843-1845)gCc>gAc	p.A615D		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	615					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTCATGCCGGGCCCACTGTGG	0.587000													71	32					6.5469e-37	7.48217e-37	1	1	0
SLC30A9	10463	broad.mit.edu	37	4	42022431	42022431	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:42022431A>T	ENST00000264451.6	+	4	514		c.e4-1			NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9						nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTTTTTGTTTAGTTAAAGCAG	0.348000													5	74					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144857634	144857634	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:144857634C>T	ENST00000369359.4	-	42	6866	c.6828G>A	c.(6826-6828)acG>acA	p.T2276T	PDE4DIP_ENST00000530740.1_Silent_p.T2225T|PDE4DIP_ENST00000369354.3_Silent_p.T2140T|PDE4DIP_ENST00000369356.4_Silent_p.T2140T|PDE4DIP_ENST00000313382.9_Silent_p.T2034T|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2140					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGATTATGGGCGTTTCTGAGC	0.483000			T	PDGFRB	MPD								111	641					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179600277	179600277	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:179600277C>T	ENST00000589042.1	-	50	15120	c.14896G>A	c.(14896-14898)Gct>Act	p.A4966T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A3722T|TTN_ENST00000591111.1_Missense_Mutation_p.A4649T|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4649	Ig-like 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCTTCCAGCCTCATTTGAA	0.408000													31	32					0	0	1	0	0
SLC30A7	148867	broad.mit.edu	37	1	101427382	101427382	+	Splice_Site	SNP	A	A	T	rs5776552		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:101427382A>T	ENST00000370112.4	+	9	1029		c.e9-1		SLC30A7_ENST00000357650.4_Splice_Site	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7						zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		CCTTTTCCTTAGTGTTATTCC	0.368000													6	93					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	8998036	8998036	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:8998036A>T	ENST00000299698.7	+	13	1656		c.e13-1		A2ML1_ENST00000539547.1_Splice_Site|A2ML1_ENST00000540049.1_3'UTR	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1							extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TTTCTTCTTTAGTTAATAGGG	0.428000													8	201					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74973489	74973489	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:74973489G>A	ENST00000261978.4	-	27	4331	c.3945C>T	c.(3943-3945)agC>agT	p.S1315S	LTBP2_ENST00000556690.1_Silent_p.S1271S	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1315	Cys-rich.|EGF-like 15; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGAAGCCGTGGCTGCCACACA	0.597000													16	35					0	0	1	0	0
PLTP	5360	broad.mit.edu	37	20	44531163	44531163	+	Silent	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:44531163G>T	ENST00000542937.1	-	10	1617	c.1083C>A	c.(1081-1083)ggC>ggA	p.G361G	PLTP_ENST00000354050.4_Silent_p.G289G|PLTP_ENST00000477313.1_Silent_p.G341G|PLTP_ENST00000420868.2_Silent_p.G246G|PLTP_ENST00000372420.1_Silent_p.G253G|PLTP_ENST00000372431.3_Silent_p.G341G			P55058	PLTP_HUMAN	phospholipid transfer protein	341					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				AGATGGTGGTGCCAGAGGGCT	0.627000													49	140					1.62263e-30	1.84963e-30	1	1	0
MAP1B	4131	broad.mit.edu	37	5	71495925	71495925	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:71495925C>T	ENST00000296755.7	+	5	7041	c.6743C>T	c.(6742-6744)cCa>cTa	p.P2248L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2248						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACCAAAAAGCCAGGTACAAAG	0.488000													5	692					0	0	1	0	0
GULP1	51454	broad.mit.edu	37	2	189458666	189458666	+	Splice_Site	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:189458666G>A	ENST00000409580.1	+	13	1557		c.e13-1		GULP1_ENST00000409843.1_Splice_Site|GULP1_ENST00000409830.1_Splice_Site|GULP1_ENST00000359135.3_Splice_Site|GULP1_ENST00000409805.1_Splice_Site|GULP1_ENST00000409609.1_Splice_Site			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1						apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			CTGTTTTACAGGAGGGGTTCA	0.338000													17	62					0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31484438	31484438	+	Silent	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:31484438T>C	ENST00000322054.5	+	5	1224	c.939T>C	c.(937-939)tcT>tcC	p.S313S	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	313					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TCATCAGCTCTCTGAAGAAGG	0.562000													115	580					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168106925	168106925	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:168106925T>A	ENST00000409195.1	+	9	9112	c.9023T>A	c.(9022-9024)gTa>gAa	p.V3008E	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V2786E|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V3008E	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2833					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTAGAAAAAGTAAAAGAAGAA	0.333000													5	122					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48690437	48690437	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:48690437T>A	ENST00000314191.2	-	85	11907		c.e85-2		PRKDC_ENST00000523565.1_Splice_Site|PRKDC_ENST00000338368.3_Splice_Site	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide						cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGGCAGAAACTAAACAAGAAA	0.423000								Non-homologous end-joining					5	45					0	0	1	0	0
FAM180A	389558	broad.mit.edu	37	7	135419056	135419056	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:135419056G>A	ENST00000338588.3	-	3	454	c.189C>T	c.(187-189)gcC>gcT	p.A63A	FAM180A_ENST00000415751.1_Silent_p.A63A	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	63						extracellular region				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						TCTCAAGTTCGGCCAGCAGGA	0.532000													5	477					0	0	1	0	0
GOLIM4	27333	broad.mit.edu	37	3	167750471	167750471	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:167750471T>G	ENST00000470487.1	-	9	1702	c.1013A>C	c.(1012-1014)gAg>gCg	p.E338A	GOLIM4_ENST00000309027.4_Missense_Mutation_p.E310A	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	338	Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTTTCTGTGCTCCTCTTCCAC	0.552000													219	95					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104098121	104098121	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:104098121A>T	ENST00000265148.3	-	14	1414	c.1325T>A	c.(1324-1326)aTa>aAa	p.I442K	CENPE_ENST00000380026.3_Missense_Mutation_p.I442K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	442					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATTTGTTGGTATATTAAATTG	0.284000													3	22					0	0	1	0	0
CPOX	1371	broad.mit.edu	37	3	98307628	98307628	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:98307628G>A	ENST00000264193.2	-	4	1100	c.882C>T	c.(880-882)gtC>gtT	p.V294V		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	294			V -> I (in dbSNP:rs2228056).			mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TGTGAAAATGGACAGCGTCTT	0.433000													7	57					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7786826	7786826	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:7786826A>T	ENST00000358415.4	+	19	2647	c.2481A>T	c.(2479-2481)ttA>ttT	p.L827F	ITIH2_ENST00000379587.4_Missense_Mutation_p.L816F	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	827					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTTCTGTTTTACTTCATCGTG	0.418000													4	112					0	0	1	0	0
CPB2	1361	broad.mit.edu	37	13	46632338	46632338	+	Missense_Mutation	SNP	A	A	T	rs150895932		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr13:46632338A>T	ENST00000181383.4	-	9	991	c.975T>A	c.(973-975)agT>agA	p.S325R	CPB2_ENST00000439329.3_Missense_Mutation_p.S288R|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606351.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	325		Cleavage; by thrombin.			blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CTTTGCTTTTACTTCGTGTAT	0.328000													9	321					0	0	1	0	0
B9D1	27077	broad.mit.edu	37	17	19250621	19250621	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:19250621A>C	ENST00000477478.2	-	5	625	c.292T>G	c.(292-294)Ttg>Gtg	p.L98V	B9D1_ENST00000261499.4_Missense_Mutation_p.F122C|B9D1_ENST00000395616.3_Missense_Mutation_p.F122C|B9D1_ENST00000575403.1_Missense_Mutation_p.L98V|B9D1_ENST00000461069.2_Missense_Mutation_p.F122C|B9D1_ENST00000395615.1_Missense_Mutation_p.F122C|B9D1_ENST00000268841.6_Missense_Mutation_p.F122C			Q9UPM9	B9D1_HUMAN	B9 protein domain 1	0	B9.				cilium assembly	centrosome|microtubule basal body	protein binding			large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TTCTGGGACAAACATGGGGAT	0.463000													23	210					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325874	152325874	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:152325874C>T	ENST00000388718.5	-	3	4460	c.4388G>A	c.(4387-4389)gGg>gAg	p.G1463E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1463							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCGTGTCTCCCATGAACTGT	0.498000													13	1509					0	0	1	0	0
TRIM33	51592	broad.mit.edu	37	1	114968131	114968131	+	Silent	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:114968131A>T	ENST00000358465.2	-	9	1718	c.1635T>A	c.(1633-1635)acT>acA	p.T545T	TRIM33_ENST00000450349.2_Silent_p.T153T|TRIM33_ENST00000369543.2_Silent_p.T545T	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	545	Poly-Thr.				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGTTGTTGTAGTTGGTACAG	0.428000			T	RET	papillary thyroid								7	492					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53644453	53644453	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:53644453C>A	ENST00000452676.2	-	5	2057	c.1631G>T	c.(1630-1632)tGt>tTt	p.C544F	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.C544F|ZNF347_ENST00000334197.7_Missense_Mutation_p.C543F	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GCACTCATTACACATATAAGG	0.398000													145	253					3.29649e-51	3.81699e-51	1	1	0
ZNF223	7766	broad.mit.edu	37	19	44571310	44571310	+	Silent	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:44571310T>A	ENST00000591793.1	+	7	1742	c.1659T>A	c.(1657-1659)cgT>cgA	p.R553R	ZNF223_ENST00000434772.3_Silent_p.R443R			Q9UK11	ZN223_HUMAN	zinc finger protein 223	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				GGTCATACCGTAAAGACCAAC	0.393000													5	220					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627000													9	71					0	0	1	0	0
AJUBA	84962	broad.mit.edu	37	14	23445729	23445729	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:23445729T>A	ENST00000262713.2	-	4	1552		c.e4-2		AJUBA_ENST00000397388.3_Splice_Site|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Splice_Site	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein						cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										CCCTGAAAACTAAAGTAAAAG	0.453000													9	321					0	0	1	0	0
RSL1D1	26156	broad.mit.edu	37	16	11933633	11933633	+	Silent	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:11933633A>T	ENST00000571133.1	-	8	1137	c.1065T>A	c.(1063-1065)gtT>gtA	p.V355V	RSL1D1_ENST00000542106.1_Silent_p.V135V	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	355					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTGTTGCTTTAACTTGGGCTT	0.408000													7	401					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111580247	111580247	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:111580247G>A	ENST00000428084.1	-	11	1167	c.895C>T	c.(895-897)Cga>Tga	p.R299*	DOCK4_ENST00000437633.1_Nonsense_Mutation_p.R299*|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	299					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CCAAAGGGTCGTCGGTACTGG	0.443000													6	774					0	0	1	0	0
DPEP2	64174	broad.mit.edu	37	16	68021768	68021768	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:68021768C>A	ENST00000412757.2	-	11	1858	c.1193G>T	c.(1192-1194)aGa>aTa	p.R398I	DPEP2_ENST00000393847.1_Missense_Mutation_p.R398I|DPEP2_ENST00000572888.1_Missense_Mutation_p.R398I			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	398					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TTCCACTTGTCTGAAGACCCG	0.567000													18	747					5.35267e-07	5.77248e-07	1	1	0
UQCRFS1	7386	broad.mit.edu	37	19	29698751	29698751	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:29698751G>A	ENST00000304863.4	-	2	951	c.529C>T	c.(529-531)Cgt>Tgt	p.R177C		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	177					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			GTTCTATGACGCACAAACAGG	0.453000													5	424					0	0	1	0	0
NSUN2	54888	broad.mit.edu	37	5	6605421	6605421	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:6605421G>A	ENST00000264670.6	-	15	2013	c.1702C>T	c.(1702-1704)Cgg>Tgg	p.R568W	NSUN2_ENST00000506139.1_Missense_Mutation_p.R533W|NSUN2_ENST00000539938.1_Missense_Mutation_p.R332W	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	568						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						AGCACATTCCGCAACTCCTTA	0.478000													5	486					0	0	1	0	0
SSRP1	6749	broad.mit.edu	37	11	57097569	57097569	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:57097569C>T	ENST00000278412.2	-	12	1745	c.1479G>A	c.(1477-1479)gaG>gaA	p.E493E		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	493	Asp/Glu-rich (acidic).				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						AAACTCACTCCTCTGCCACAT	0.498000													19	100					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144780343	144780343	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:144780343A>G	ENST00000367545.3	+	20	2560	c.2560A>G	c.(2560-2562)Aaa>Gaa	p.K854E		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	854	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCTTCACCCCAAAATTGAAAT	0.502000													18	35					0	0	1	0	0
CCDC112	153733	broad.mit.edu	37	5	114607212	114607212	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:114607212G>T	ENST00000379611.5	-	7	1317	c.1030C>A	c.(1030-1032)Caa>Aaa	p.Q344K	CCDC112_ENST00000506442.1_Missense_Mutation_p.Q261K|CCDC112_ENST00000512261.1_Missense_Mutation_p.Q261K|CCDC112_ENST00000395557.4_Missense_Mutation_p.Q261K	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	261										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		ttttgcttttgattatcctct	0.338000													4	76					2.56e-06	2.74732e-06	1	1	0
TCF12	6938	broad.mit.edu	37	15	57355946	57355946	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:57355946A>T	ENST00000267811.5	+	4	452		c.e4-1		TCF12_ENST00000438423.2_Splice_Site|TCF12_ENST00000557843.1_Splice_Site|TCF12_ENST00000452095.2_Intron|TCF12_ENST00000333725.5_Splice_Site	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12						immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TTCTCTTTTTAGGTATTGATG	0.363000			T	TEC	extraskeletal myxoid chondrosarcoma								7	167					0	0	1	0	0
STARD7	56910	broad.mit.edu	37	2	96861119	96861119	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:96861119C>T	ENST00000337288.5	-	2	842	c.459G>A	c.(457-459)tgG>tgA	p.W153*	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	153	START.					mitochondrion				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						TTGGGCGCCGCCACAGCTTAA	0.498000													4	24					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179398587	179398587	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:179398587C>T	ENST00000589042.1	-	358	102979	c.102755G>A	c.(102754-102756)aGa>aAa	p.R34252K	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R25187K|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R31684K|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R32611K|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R25312K|TTN_ENST00000342175.6_Missense_Mutation_p.R25379K|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589391.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32611							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCAGGAGTCTCATTGTGTC	0.413000													8	146					0	0	1	0	0
CCDC181	57821	broad.mit.edu	37	1	169391451	169391451	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:169391451T>C	ENST00000545005.1	-	4	725	c.218A>G	c.(217-219)cAg>cGg	p.Q73R	CCDC181_ENST00000367805.3_Missense_Mutation_p.Q73R|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Missense_Mutation_p.Q73R					coiled-coil domain containing 181																		GACCTCATCCTGCAAAGATTT	0.398000													3	214					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91818686	91818686	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:91818686A>G	ENST00000370425.3	-	15	1851	c.1753T>C	c.(1753-1755)Tat>Cat	p.Y585H	HFM1_ENST00000370424.3_Missense_Mutation_p.Y264H|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	585	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GCATGATGATAAGCAGCACCA	0.328000													12	40					0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49657184	49657184	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:49657184C>T	ENST00000252825.4	-	1	1497	c.1311G>A	c.(1309-1311)caG>caA	p.Q437Q	HRC_ENST00000595625.1_Silent_p.Q437Q	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	437					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GGCTGGGGGCCTGGTGGCCAA	0.552000													5	211					0	0	1	0	0
TMPRSS12	283471	broad.mit.edu	37	12	51281283	51281283	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:51281283T>A	ENST00000398458.3	+	5	1066	c.1034T>A	c.(1033-1035)cTa>cAa	p.L345Q	TMPRSS12_ENST00000551456.1_3'UTR	NM_182559.2	NP_872365.1	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	345					proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						GTCATCTTACTAGCAACAACA	0.338000													5	145					0	0	1	0	0
RRAS2	22800	broad.mit.edu	37	11	14316410	14316410	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:14316410T>A	ENST00000545643.1	-	3	528		c.e3-2		RRAS2_ENST00000532814.1_Splice_Site|RRAS2_ENST00000537760.1_Splice_Site|RRAS2_ENST00000526063.1_Splice_Site|RRAS2_ENST00000534746.1_Splice_Site|RRAS2_ENST00000414023.2_Splice_Site|RRAS2_ENST00000256196.4_Splice_Site|RRAS2_ENST00000529237.1_Splice_Site	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2							endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		TATCCAAAACTAAAGAAAAAA	0.398000													15	188					0	0	1	0	0
CABYR	26256	broad.mit.edu	37	18	21739723	21739723	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr18:21739723C>A	ENST00000399496.3	+	5	994	c.829C>A	c.(829-831)Cct>Act	p.P277T	RP11-799B12.4_ENST00000583267.1_lincRNA|CABYR_ENST00000581397.1_Missense_Mutation_p.P277T|CABYR_ENST00000399499.1_Missense_Mutation_p.P277T|CABYR_ENST00000327201.6_Missense_Mutation_p.P179T|CABYR_ENST00000415309.2_Intron	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	0					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					GAAACCTCTTCCTGGACATGC	0.458000													32	484					0.000279167	0.000293159	1	1	0
GAK	2580	broad.mit.edu	37	4	898459	898459	+	Missense_Mutation	SNP	C	C	T	rs146710139	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:898459C>T	ENST00000314167.4	-	5	601	c.491G>A	c.(490-492)cGg>cAg	p.R164Q	GAK_ENST00000511163.1_Missense_Mutation_p.R85Q	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	164	Protein kinase.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CGGCTTCTGCCGGTGCATGTG	0.602000													4	73					0	0	1	0	0
ACSS2	55902	broad.mit.edu	37	20	33513922	33513922	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:33513922A>G	ENST00000360596.2	+	16	1952	c.1741A>G	c.(1741-1743)Aca>Gca	p.T581A	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Missense_Mutation_p.T531A|ACSS2_ENST00000253382.5_Missense_Mutation_p.T594A	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	581					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCTGCTGAGTACAGCAGAGGT	0.577000													4	613					0	0	1	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44218220	44218220	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:44218220G>A	ENST00000371554.1	+	6	1055	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.E281K|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.E281K			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	281					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGATCAGGAAGAACTAAACAA	0.423000													52	103					0	0	1	0	0
SMC3	9126	broad.mit.edu	37	10	112335137	112335137	+	Silent	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:112335137A>G	ENST00000361804.4	+	4	300	c.174A>G	c.(172-174)ccA>ccG	p.P58P	SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	58					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		ATCTTCGTCCAGAACAGCGGT	0.299000													8	14					0	0	1	0	0
STAT2	6773	broad.mit.edu	37	12	56742758	56742758	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:56742758C>T	ENST00000314128.4	-	17	1549	c.1526G>A	c.(1525-1527)gGc>gAc	p.G509D	STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Missense_Mutation_p.G505D			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	509					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GAGGCCTCGGCCAACATAGGA	0.562000													5	369					0	0	1	0	0
IPO11	51194	broad.mit.edu	37	5	61846192	61846192	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:61846192A>T	ENST00000325324.6	+	25	2419		c.e25-1		IPO11_ENST00000409296.3_Splice_Site	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11							cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TCTGGTTTTTAGGTTGTGGAA	0.348000													4	69					0	0	1	0	0
IFNLR1	163702	broad.mit.edu	37	1	24485612	24485612	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:24485612G>T	ENST00000327535.1	-	6	743	c.731C>A	c.(730-732)gCa>gAa	p.A244E	IFNLR1_ENST00000374421.3_Missense_Mutation_p.A244E|IFNLR1_ENST00000374419.1_Missense_Mutation_p.A161E|IFNLR1_ENST00000327575.2_Intron	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1			interferon, lambda receptor 1																		CACACCCCCTGCGGCAATTAC	0.527000													5	197					0.000602214	0.000627901	1	1	0
VWF	7450	broad.mit.edu	37	12	6220099	6220099	+	Missense_Mutation	SNP	C	C	T	rs140044866	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:6220099C>T	ENST00000261405.5	-	4	510	c.256G>A	c.(256-258)Gtg>Atg	p.V86M	VWF_ENST00000572068.1_Missense_Mutation_p.V123M	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	86	VWFD 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCAAGATACACGGAGAGGCTC	0.408000													4	398					0	0	1	0	0
WIPI2	26100	broad.mit.edu	37	7	5270558	5270558	+	Missense_Mutation	SNP	A	A	G	rs144773383	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:5270558A>G	ENST00000288828.4	+	13	1577	c.1345A>G	c.(1345-1347)Atg>Gtg	p.M449V	WIPI2_ENST00000484262.1_Missense_Mutation_p.M379V|WIPI2_ENST00000401525.3_Missense_Mutation_p.M431V|WIPI2_ENST00000404704.3_Missense_Mutation_p.M438V|WIPI2_ENST00000382384.2_Missense_Mutation_p.M420V	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	449					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GCACCCGCCCATGATTCTTCG	0.597000													35	82					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18435372	18435372	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:18435372T>A	ENST00000433979.1	+	2	473	c.357T>A	c.(355-357)aaT>aaA	p.N119K	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.N119K|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.N119K|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.N119K|RERGL_ENST00000541632.1_Intron	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	119					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AACCTCAAAATACGAATAAAG	0.403000													5	178					0	0	1	0	0
SEPT12	124404	broad.mit.edu	37	16	4833698	4833698	+	Silent	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:4833698G>T	ENST00000268231.8	-	6	845	c.582C>A	c.(580-582)gcC>gcA	p.A194A	SEPT12_ENST00000396693.5_Silent_p.A148A	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	194					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						TGTCGGCCCTGGCAATCACGG	0.687000													6	119					0.00621372	0.00640289	1	1	0
ZNF781	163115	broad.mit.edu	37	19	38160704	38160704	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:38160704G>A	ENST00000358582.4	-	4	1094	c.346C>T	c.(346-348)Cct>Tct	p.P116S	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000590008.1_Missense_Mutation_p.P116S	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						CATTTATAAGGTTTCTCACCA	0.378000													25	342					0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33235518	33235518	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:33235518T>A	ENST00000482399.1	-	9	1530		c.e9-2		VPS52_ENST00000445902.2_Splice_Site|VPS52_ENST00000436044.2_Splice_Site|VPS52_ENST00000478934.1_Intron			Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)						protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TTCCTCATACTAAGGAAAGAG	0.473000													7	370					0	0	1	0	0
RGPD8	727851	broad.mit.edu	37	2	113147073	113147073	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:113147073A>T	ENST00000302558.3	-	20	3640	c.3449T>A	c.(3448-3450)tTt>tAt	p.F1150Y	RGPD8_ENST00000409750.1_Missense_Mutation_p.F1010Y	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8											endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						TGGTGTTTTAAATTTTGCTGC	0.453000													5	161					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198265662	198265662	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:198265662T>A	ENST00000335508.5	-	18	2588		c.e18-2			NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATCAACTAACTAAAAAGAACA	0.338000			Mis		myelodysplastic syndrome								6	42					0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27250942	27250942	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:27250942T>C	ENST00000577226.1	-	4	1046	c.700A>G	c.(700-702)Acc>Gcc	p.T234A	PHF12_ENST00000332830.4_Missense_Mutation_p.T234A|PHF12_ENST00000268756.3_Missense_Mutation_p.T234A|PHF12_ENST00000582655.1_5'UTR			Q96QT6	PHF12_HUMAN	PHD finger protein 12	234	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			AGTGCAGTGGTACAAGTCAGT	0.562000													32	39					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94637785	94637785	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:94637785T>A	ENST00000258526.4	+	12	2621	c.2372T>A	c.(2371-2373)tTa>tAa	p.L791*		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	791					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCACATGAATTAAAAGGAAAC	0.328000													5	108					0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88477819	88477819	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:88477819G>A	ENST00000267549.3	+	2	1186	c.628G>A	c.(628-630)Gtg>Atg	p.V210M	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	210					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CTACCAAGCTGTGCGGCACAA	0.423000													15	109					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36766970	36766970	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:36766970G>A	ENST00000399881.3	+	21	2285	c.2248G>A	c.(2248-2250)Gac>Aac	p.D750N		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	750						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GGAGCTGAAGGACATAGTGTT	0.463000													41	494					0	0	1	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947012	57947012	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:57947012A>T	ENST00000335397.3	+	3	412	c.96A>T	c.(94-96)ttA>ttT	p.L32F		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TCTTGTTTTTATTTATGTATC	0.448000													11	431					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43782915	43782915	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:43782915A>C	ENST00000372476.3	+	15	2534	c.2455A>C	c.(2455-2457)Acc>Ccc	p.T819P	TIE1_ENST00000433781.2_Missense_Mutation_p.T464P|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	819					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTTGACACTTACCCGGCGGCC	0.612000													6	199					0	0	1	0	0
FGF6	2251	broad.mit.edu	37	12	4543521	4543521	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:4543521G>T	ENST00000228837.2	-	3	530	c.487C>A	c.(487-489)Ctc>Atc	p.L163I		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	163					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TTGGGCAGGAGGGTTTCTCTG	0.522000													4	485					1.23904e-05	1.32004e-05	1	1	0
SDHAF2	54949	broad.mit.edu	37	11	61205474	61205474	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:61205474A>T	ENST00000301761.2	+	3	334		c.e3-1		SDHAF2_ENST00000542074.1_Intron|RP11-286N22.8_ENST00000544880.1_Splice_Site|SDHAF2_ENST00000537782.1_Splice_Site|SDHAF2_ENST00000543265.1_Intron|SDHAF2_ENST00000534878.1_Splice_Site|RP11-286N22.8_ENST00000543044.1_Splice_Site	NM_017841.2	NP_060311.1	Q9NX18	SDHF2_HUMAN	succinate dehydrogenase complex assembly factor 2						mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding			large_intestine(3)|lung(4)|ovary(2)	9						TCTTGTTTTTAGTCTTTTTGC	0.403000													5	281					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32832520	32832520	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:32832520A>T	ENST00000421745.2	+	72	14204		c.e72-1			NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTTATTCTTTAGGTGTTGGTG	0.408000													13	454					0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44856401	44856401	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:44856401A>T	ENST00000326047.4	+	20	2532		c.e20-1		KIF15_ENST00000425755.1_Splice_Site	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15						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)		TTTGTTTTTTAGTTTTGAAAA	0.358000													9	81					0	0	1	0	0
C21orf128	150147	broad.mit.edu	37	21	43523851	43523851	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr21:43523851C>T	ENST00000329015.2	-	2	533	c.382G>A	c.(382-384)Gac>Aac	p.D128N	UMODL1_ENST00000400424.1_Intron|UMODL1_ENST00000408989.2_Intron|UMODL1_ENST00000408910.2_Intron|UMODL1_ENST00000400427.1_Intron					chromosome 21 open reading frame 128											lung(4)	4						GGTCGGTCGTCAGGTGCCTCC	0.582000													3	7					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155346	22155346	+	Silent	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:22155346T>C	ENST00000397126.4	-	4	2638	c.2490A>G	c.(2488-2490)gaA>gaG	p.E830E	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTAGGGCTTTTCTCCAGCAT	0.373000													3	97					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95497757	95497757	+	RNA	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:95497757C>G	ENST00000432432.2	-	0	1086					NR_040113.1																						CTCACCTTCTCCTTGTCCATT	0.473000													159	197					0	0	1	0	0
MRPL1	65008	broad.mit.edu	37	4	78873727	78873727	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:78873727T>A	ENST00000315567.8	+	9	1273	c.944T>A	c.(943-945)gTa>gAa	p.V315E		NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	315							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						CCTAAAGAAGTAAAAAATGAA	0.348000													4	57					0	0	1	0	0
WDFY1	57590	broad.mit.edu	37	2	224744951	224744951	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:224744951T>A	ENST00000233055.4	-	11	1167		c.e11-2			NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1							cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		GAAGTCCGACTAACAAGAGAA	0.443000													8	349					0	0	1	0	0
PIGZ	80235	broad.mit.edu	37	3	196678778	196678778	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:196678778C>A	ENST00000412723.1	-	2	271	c.125G>T	c.(124-126)aGc>aTc	p.S42I	PIGZ_ENST00000443835.1_Missense_Mutation_p.S42I	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	42					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		TCGGAGCAGGCTGAGACCACC	0.567000													3	79					0.004672	0.00482554	1	1	0
TCHHL1	126637	broad.mit.edu	37	1	152059571	152059571	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:152059571A>T	ENST00000368806.1	-	3	651	c.587T>A	c.(586-588)aTa>aAa	p.I196K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	196							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGTTGTTTGTATATCTTGAGC	0.433000													5	283					0	0	1	0	0
FAM122C	159091	broad.mit.edu	37	X	133948799	133948799	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:133948799A>T	ENST00000445123.1	+	3	274		c.e3-1		FAM122C_ENST00000370784.4_Splice_Site|FAM122C_ENST00000370785.3_Splice_Site|FAM122C_ENST00000414371.2_Splice_Site			Q6P4D5	F222C_HUMAN	family with sequence similarity 122C											endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TTTTCTTTTTAGTTTTAATTC	0.338000													4	85					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26774093	26774093	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:26774093C>T	ENST00000381340.3	-	26	3841	c.3425G>A	c.(3424-3426)gGg>gAg	p.G1142E		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1142					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TTGACTTTCCCCTATTTCTCC	0.408000													6	842					0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869587	22869587	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:22869587G>T	ENST00000302097.3	-	2	620	c.368C>A	c.(367-369)cCt>cAt	p.P123H		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTTATAACCAGGTTCAGATGA	0.483000													5	276					0.184627	0.18547	1	1	0
UNC45B	146862	broad.mit.edu	37	17	33495211	33495211	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:33495211C>T	ENST00000268876.5	+	10	1380	c.1283C>T	c.(1282-1284)gCa>gTa	p.A428V	UNC45B_ENST00000433649.1_Missense_Mutation_p.A428V|UNC45B_ENST00000394570.2_Missense_Mutation_p.A428V|UNC45B_ENST00000591048.1_Missense_Mutation_p.A428V|UNC45B_ENST00000378449.1_Missense_Mutation_p.A428V	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	428					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				ATGATGGTGGCACTATGTGGC	0.592000													29	109					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30953424	30953424	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:30953424C>A	ENST00000597505.1	-	20	2790	c.2791G>T	c.(2791-2793)Gag>Tag	p.E931*	DCDC1_ENST00000339794.5_Nonsense_Mutation_p.E10*|DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	279					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCATATGGCTCTGTTGTCTTA	0.443000													59	30					1.1362e-29	1.2918e-29	1	1	0
GON4L	54856	broad.mit.edu	37	1	155735152	155735152	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:155735152A>T	ENST00000437809.1	-	21	4234	c.4112T>A	c.(4111-4113)gTa>gAa	p.V1371E	GON4L_ENST00000361040.5_Missense_Mutation_p.V1371E|GON4L_ENST00000271883.5_Missense_Mutation_p.V1371E|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Missense_Mutation_p.V1371E			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1371					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTGTTTCGTTACTTCTCCAGC	0.502000													8	665					0	0	1	0	0
FTSJ2	29960	broad.mit.edu	37	7	2274853	2274853	+	Silent	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:2274853T>A	ENST00000242257.8	-	3	673	c.645A>T	c.(643-645)gtA>gtT	p.V215V	FTSJ2_ENST00000407040.1_Silent_p.V121V|FTSJ2_ENST00000486040.1_5'UTR|FTSJ2_ENST00000440306.2_3'UTR	NM_013393.1	NP_037525.1	Q9UI43	RRMJ2_HUMAN	FtsJ RNA methyltransferase homolog 2 (E. coli)	215					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		TGATGATCCTTACATTCTGGA	0.502000													54	51					0	0	1	0	0
VHL	7428	broad.mit.edu	37	3	10188200	10188200	+	Missense_Mutation	SNP	C	C	A	rs5030811		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:10188200C>A	ENST00000256474.2	+	2	1183	c.343C>A	c.(343-345)Cac>Aac	p.H115N	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	115	Involved in binding to CCT complex.		H -> Q (in VHLD; type II).|H -> R (in VHLD; type II; dbSNP:rs5030812).|H -> Y (in VHLD; type I; dbSNP:rs5030811).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.H115N(7)|p.H115Y(5)|p.?(3)|p.H115fs*15(1)|p.H115D(1)|p.H115fs*41(1)|p.H115fs*42(1)|p.H115fs*44(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCCGATAGGTCACCTTTGGCT	0.532000		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				127	75					1.02559e-39	1.17822e-39	1	1	0
SUPT6H	6830	broad.mit.edu	37	17	27024072	27024072	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:27024072T>G	ENST00000314616.6	+	30	4464	c.4181T>G	c.(4180-4182)cTg>cGg	p.L1394R	SUPT6H_ENST00000347486.4_Missense_Mutation_p.L1394R	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1394	SH2.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	p.L1394R(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GCCTTCAGCCTGGGAGCCACT	0.577000													9	248					0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51975487	51975487	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:51975487G>T	ENST00000220478.3	+	4	656	c.253G>T	c.(253-255)Gaa>Taa	p.E85*	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	85					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AACAGAAAAGGAAAAAATTGA	0.373000													23	203					2.21704e-12	2.43266e-12	1	1	0
GDAP1	54332	broad.mit.edu	37	8	75276279	75276279	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:75276279G>A	ENST00000220822.7	+	6	834	c.754G>A	c.(754-756)Gct>Act	p.A252T	GDAP1_ENST00000434412.2_Missense_Mutation_p.A184T|GDAP1_ENST00000521096.1_3'UTR	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	252	GST C-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CGTCTCACTCGCTGTCACATT	0.498000													3	120					0	0	1	0	0
TXNDC15	79770	broad.mit.edu	37	5	134235301	134235301	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:134235301A>T	ENST00000358387.4	+	5	1634	c.1009A>T	c.(1009-1011)Att>Ttt	p.I337F	TXNDC15_ENST00000546290.1_Missense_Mutation_p.I314F	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	337					cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AATTAGTTTTATTATGTATGC	0.408000													4	69					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112899724	112899724	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:112899724G>A	ENST00000161863.4	+	20	2824	c.2611G>A	c.(2611-2613)Gta>Ata	p.V871I		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	871							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AGATCCTTTTGTACTACCTAC	0.433000													8	960					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51117016	51117016	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:51117016C>A	ENST00000301180.5	+	27	3232	c.3198C>A	c.(3196-3198)tgC>tgA	p.C1066*		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1066						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TCTATGGCTGCCTGTATGCGG	0.517000													11	325					5.50884e-06	5.88322e-06	1	1	0
PABPC3	5042	broad.mit.edu	37	13	25670434	25670434	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr13:25670434C>T	ENST00000281589.3	+	1	135	c.98C>T	c.(97-99)cCg>cTg	p.P33L		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	33	RRM 1.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAGTTCAGCCCGGCAGGGCCC	0.617000													7	513					0	0	1	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12954436	12954436	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:12954436G>A	ENST00000235347.4	-	3	926	c.847C>T	c.(847-849)Cac>Tac	p.H283Y		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	283										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTCCAGGTGCTCTTTGATA	0.453000													243	115					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87970890	87970890	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:87970890C>T	ENST00000369577.3	+	8	7586	c.7543C>T	c.(7543-7545)Cag>Tag	p.Q2515*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.Q2510*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAATGATTTTCAGGAAGATAA	0.299000													6	23					0	0	1	0	0
DNAJB4	11080	broad.mit.edu	37	1	78478852	78478852	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:78478852T>C	ENST00000370763.5	+	2	586	c.329T>C	c.(328-330)aTt>aCt	p.I110T	GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	110					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CCCTTTGAAATTTTCTTTGGA	0.448000													81	278					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116380002	116380002	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:116380002A>T	ENST00000397752.3	+	4	1592		c.e4-1		MET_ENST00000318493.6_Splice_Site|MET_ENST00000495962.1_Splice_Site|MET_ENST00000436117.2_Splice_Site	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene						axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTTGCTGTTTAGGTTGTGGTT	0.388000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				8	404					0	0	1	0	0
SUSD3	203328	broad.mit.edu	37	9	95840260	95840260	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:95840260G>A	ENST00000375472.3	+	3	446	c.410G>A	c.(409-411)cGg>cAg	p.R137Q	SUSD3_ENST00000375469.1_Missense_Mutation_p.R124Q	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	137						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						AAGAGCAAGCGGCGGCGCTCC	0.607000													5	757					0	0	1	0	0
TMCO1	54499	broad.mit.edu	37	1	165712550	165712550	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:165712550T>A	ENST00000367881.5	-	6	752		c.e6-2		TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site			Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum membrane|Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCATCAAATCTAAAAGAAAAA	0.383000													7	51					0	0	1	0	0
RAD23B	5887	broad.mit.edu	37	9	110086193	110086193	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:110086193G>A	ENST00000358015.3	+	8	1191	c.840G>A	c.(838-840)cgG>cgA	p.R280R	RAD23B_ENST00000416373.2_Silent_p.R208R	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	280	STI1.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AATTTTTACGGAATCAGCCTC	0.358000								Direct reversal of damage;Nucleotide excision repair (NER)					7	133					0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33453474	33453474	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:33453474G>A	ENST00000265112.3	+	4	721	c.410G>A	c.(409-411)tGt>tAt	p.C137Y	TARS_ENST00000541634.1_Missense_Mutation_p.C33Y|TARS_ENST00000414361.2_Intron|TARS_ENST00000502553.1_Missense_Mutation_p.C137Y|TARS_ENST00000455217.2_Missense_Mutation_p.C170Y	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	137					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GAAGAAGATTGTACCTTGGAG	0.398000													4	219					0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19247052	19247052	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:19247052C>T	ENST00000527884.1	-	12	2369	c.2137G>A	c.(2137-2139)Ggg>Agg	p.G713R	E2F8_ENST00000250024.4_Missense_Mutation_p.G713R|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	713					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGCTGTTCCCGACAGGTACG	0.522000													17	76					0	0	1	0	0
VPS11	55823	broad.mit.edu	37	11	118948939	118948939	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:118948939C>T	ENST00000300793.6	+	12	1857	c.1815C>T	c.(1813-1815)gcC>gcT	p.A605A	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	606					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		AGCTGAAAGCCTTCCTAGAGC	0.552000													48	260					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16407888	16407888	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:16407888T>A	ENST00000354981.2	-	15	1632		c.e15-2		KIF16B_ENST00000408042.1_Splice_Site|KIF16B_ENST00000355755.3_Splice_Site|KIF16B_ENST00000378003.2_Splice_Site	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B						cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CATGAAGAACTAAAGTGGAAA	0.393000													5	229					0	0	1	0	0
ZNF772	400720	broad.mit.edu	37	19	57985282	57985282	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:57985282C>T	ENST00000343280.4	-	5	1090	c.830G>A	c.(829-831)cGc>cAc	p.R277H	ZNF772_ENST00000356584.3_Missense_Mutation_p.R236H|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.R165H|ZNF772_ENST00000425074.3_3'UTR|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000596831.1_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R277H(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		TGAGTCTTTGCGGCTGAAGGT	0.488000													4	324					0	0	1	0	0
RAMP2	10266	broad.mit.edu	37	17	40914403	40914403	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:40914403T>C	ENST00000253796.5	+	3	262	c.194T>C	c.(193-195)gTc>gCc	p.V65A	RAMP2_ENST00000587142.1_Missense_Mutation_p.V70A|RAMP2_ENST00000589683.1_5'UTR|RAMP2_ENST00000588576.1_Intron	NM_005854.2	NP_005845.2	O60895	RAMP2_HUMAN	receptor (G protein-coupled) activity modifying protein 2	65					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	coated pit|integral to plasma membrane|lysosome	protein transporter activity			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	GAGACAGCTGTCCAATTTTGC	0.512000													5	269					0	0	1	0	0
METTL4	64863	broad.mit.edu	37	18	2547452	2547452	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr18:2547452T>A	ENST00000319888.6	-	6	1774	c.976A>T	c.(976-978)Act>Tct	p.T326S	METTL4_ENST00000574538.1_Missense_Mutation_p.T326S			Q8N3J2	METL4_HUMAN	methyltransferase like 4	326					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						GTCACCCAAGTAACAAGAAGA	0.408000													6	298					0	0	1	0	0
WDR75	84128	broad.mit.edu	37	2	190334800	190334800	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:190334800A>T	ENST00000314761.4	+	17	1879		c.e17-1			NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75							nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TTTTCCCTCTAGTGTTTGTAT	0.428000													6	418					0	0	1	0	0
CHMP2A	27243	broad.mit.edu	37	19	59063676	59063676	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:59063676C>T	ENST00000600118.1	-	2	723	c.298G>A	c.(298-300)Gca>Aca	p.A100T	CHMP2A_ENST00000601220.1_Missense_Mutation_p.A100T|CHMP2A_ENST00000312547.2_Missense_Mutation_p.A100T			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	100	Interaction with VPS4B.				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ATGGCTTGTGCCATCGAGTTG	0.577000													5	450					0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149749096	149749096	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:149749096G>T	ENST00000451292.1	+	6	678	c.570G>T	c.(568-570)atG>atT	p.M190I	TCOF1_ENST00000513346.1_Missense_Mutation_p.M190I|TCOF1_ENST00000394269.3_Missense_Mutation_p.M190I|TCOF1_ENST00000439160.2_Missense_Mutation_p.M190I|TCOF1_ENST00000445265.2_Missense_Mutation_p.M190I|TCOF1_ENST00000504761.2_Missense_Mutation_p.M190I|TCOF1_ENST00000323668.7_Missense_Mutation_p.M190I|TCOF1_ENST00000377797.3_Missense_Mutation_p.M190I			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	190					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCAGGGATGGTGTCAGCGG	0.627000													43	124					1.36018e-38	1.55854e-38	1	1	0
HERC2P4	100289574	broad.mit.edu	37	16	32163517	32163517	+	RNA	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:32163517C>T	ENST00000564145.1	-	0	65																											CGGGGTGATGCCAGTCACGGT	0.562000													4	279					0	0	1	0	0
SLC29A4	222962	broad.mit.edu	37	7	5330422	5330422	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:5330422G>T	ENST00000396872.2	+	3	390	c.229G>T	c.(229-231)Gct>Tct	p.A77S	SLC29A4_ENST00000406453.3_Missense_Mutation_p.A77S|SLC29A4_ENST00000297195.4_Missense_Mutation_p.A77S	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	77					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GATGCTGCTGGCTGGCGTGGG	0.607000													4	154					2.21704e-12	2.43266e-12	1	1	0
PBRM1	55193	broad.mit.edu	37	3	52662912	52662912	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:52662912G>A	ENST00000356770.4	-	11	1347	c.1345C>T	c.(1345-1347)Cag>Tag	p.Q449*	PBRM1_ENST00000296302.7_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.Q481*			Q86U86	PB1_HUMAN	polybromo 1	481	Bromo 3.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AATCACACCTGCATAACTTGC	0.358000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								41	59					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48511101	48511101	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:48511101A>T	ENST00000446524.1	+	1	833	c.757A>T	c.(757-759)Att>Ttt	p.I253F		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGTTCCTTGTATTTTTATGTA	0.428000													9	645					0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116932982	116932982	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:116932982A>G	ENST00000537345.1	+	9	1534	c.1171A>G	c.(1171-1173)Atg>Gtg	p.M391V	ATP1A1_ENST00000295598.5_Missense_Mutation_p.M391V|ATP1A1_ENST00000369496.4_Missense_Mutation_p.M360V	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	391					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	AGTGGCCCACATGTGGTTTGA	0.507000													53	68					0	0	1	0	0
CASP10	843	broad.mit.edu	37	2	202060612	202060612	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:202060612C>A	ENST00000286186.6	+	5	1060	c.625C>A	c.(625-627)Caa>Aaa	p.Q209K	CASP10_ENST00000374650.3_Missense_Mutation_p.Q209K|CASP10_ENST00000346817.5_Missense_Mutation_p.Q209K|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000313728.7_Missense_Mutation_p.Q209K|CASP10_ENST00000448480.1_Missense_Mutation_p.Q209K|CASP10_ENST00000360132.3_Missense_Mutation_p.Q209K|CASP10_ENST00000272879.5_Missense_Mutation_p.Q209K	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	209					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						CGAGTCGTATCAAGGAGAGGA	0.433000													260	770					4.27651e-76	5.00443e-76	1	1	0
MAGEC1	9947	broad.mit.edu	37	X	140994960	140994960	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567000										HNSCC(15;0.026)			6	497					0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69379378	69379378	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:69379378G>T	ENST00000303714.4	+	13	1351	c.1029G>T	c.(1027-1029)tgG>tgT	p.W343C	ANTXR1_ENST00000409349.3_Missense_Mutation_p.W343C	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	343					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GGTGGTTCTGGCCCCTCTGCT	0.567000									Familial Infantile Hemangioma				7	431					5.18039e-06	5.54592e-06	1	1	0
CCDC47	57003	broad.mit.edu	37	17	61843526	61843526	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:61843526A>T	ENST00000225726.5	-	2	392	c.10T>A	c.(10-12)Ttc>Atc	p.F4I	CCDC47_ENST00000582252.1_Missense_Mutation_p.F4I|CCDC47_ENST00000403162.3_Missense_Mutation_p.F4I	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	4						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						AAAGTGTGGAAGGCTTTCATT	0.363000													5	185					0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94043228	94043228	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:94043228A>T	ENST00000515393.1	-	23	2972	c.2973T>A	c.(2971-2973)taT>taA	p.Y991*	MCTP1_ENST00000312216.8_Nonsense_Mutation_p.Y770*|MCTP1_ENST00000505078.1_Nonsense_Mutation_p.Y507*|MCTP1_ENST00000429576.2_Nonsense_Mutation_p.Y684*|MCTP1_ENST00000514040.1_Intron|ANKRD32_ENST00000493934.1_Intron	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	991					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TCTTTCTTTTATATGGGCTAT	0.453000													7	381					0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7043425	7043425	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:7043425C>T	ENST00000356654.4	+	3	351	c.114C>T	c.(112-114)gtC>gtT	p.V38V	ATN1_ENST00000396684.2_Silent_p.V38V	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	38					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CTGGAGGGGTCAGCACGTCCA	0.617000													5	518					0	0	1	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46917575	46917575	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr13:46917575G>A	ENST00000378797.2	-	14	2384	c.1780C>T	c.(1780-1782)Cga>Tga	p.R594*	KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000429979.1_Missense_Mutation_p.A645V|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.A488V|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.A578V|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.A645V|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.A510V|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.A488V|KIAA0226L_ENST00000378787.3_Nonsense_Mutation_p.R594*			Q9H714	CM018_HUMAN	KIAA0226-like	0										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TGTGATCCTCGCACACCGGGG	0.517000													4	222					0	0	1	0	0
RNF20	56254	broad.mit.edu	37	9	104312929	104312929	+	Silent	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:104312929T>C	ENST00000389120.3	+	10	1224	c.1134T>C	c.(1132-1134)acT>acC	p.T378T		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	378					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TTAAGGAAACTCCAGAATATC	0.507000													5	380					0	0	1	0	0
GRHL3	57822	broad.mit.edu	37	1	24674000	24674000	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:24674000C>A	ENST00000361548.4	+	14	1816	c.1586C>A	c.(1585-1587)gCg>gAg	p.A529E	GRHL3_ENST00000350501.5_Missense_Mutation_p.A529E|GRHL3_ENST00000356046.2_Missense_Mutation_p.A483E|GRHL3_ENST00000342072.4_Missense_Mutation_p.A436E|GRHL3_ENST00000236255.4_Missense_Mutation_p.A534E	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	529					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GTGTTTGACGCGCTCATGTTG	0.577000													4	80					0.00024832	0.000261389	1	1	0
RNASE4	6038	broad.mit.edu	37	14	21167618	21167618	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:21167618G>A	ENST00000555835.1	+	2	764	c.88G>A	c.(88-90)Gat>Aat	p.D30N	RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000555597.1_Missense_Mutation_p.D30N|AL163636.6_ENST00000553909.1_RNA|RNASE4_ENST00000304704.4_Missense_Mutation_p.D30N|RNASE4_ENST00000397995.2_Missense_Mutation_p.D30N	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	30					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		CTATGGCCAGGATGGCATGTA	0.562000													6	354					0	0	1	0	0
RUFY1	80230	broad.mit.edu	37	5	179004074	179004074	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:179004074A>T	ENST00000377001.2	+	6	828		c.e6-1		RUFY1_ENST00000319449.4_Splice_Site|RUFY1_ENST00000393438.2_Splice_Site|RUFY1_ENST00000437570.2_Splice_Site			Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1						endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TATTTCGTTTAGGTTGGAGTA	0.313000										HNSCC(44;0.11)			5	161					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21123085	21123085	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:21123085G>T	ENST00000261383.3	-	14	1960	c.1961C>A	c.(1960-1962)tCc>tAc	p.S654Y	DNAH3_ENST00000415178.1_Missense_Mutation_p.S654Y	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	654	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S654C(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GATGTTCATGGATGCAATTTC	0.458000													69	124					5.12816e-46	5.92228e-46	1	1	0
GALNT3	2591	broad.mit.edu	37	2	166611170	166611170	+	Silent	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:166611170A>T	ENST00000392701.3	-	9	2368	c.1593T>A	c.(1591-1593)atT>atA	p.I531I	GALNT3_ENST00000409882.1_Silent_p.I269I	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	531	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						ATGTATACATAATTAATGGTT	0.368000													31	64					0	0	1	0	0
IFNA21	3452	broad.mit.edu	37	9	21166058	21166058	+	Nonsense_Mutation	SNP	A	A	T	rs142245609		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:21166058A>T	ENST00000380225.1	-	1	601	c.554T>A	c.(553-555)tTa>tAa	p.L185*		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	185					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTTCCTCCTTAATCTTTCTTG	0.378000													4	146					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193068950	193068950	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:193068950G>A	ENST00000342358.4	-	7	764	c.647C>T	c.(646-648)aCt>aTt	p.T216I		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	216					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CAGCCACAAAGTTAGGGTGAA	0.403000													31	254					0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118434631	118434631	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:118434631C>G	ENST00000369209.3	-	12	1793	c.1689G>C	c.(1687-1689)tgG>tgC	p.W563C		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	563							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CGTCGGTGCACCACCGAGTGC	0.642000													57	27					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24583108	24583108	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:24583108T>A	ENST00000319715.4	+	18	5153	c.4721T>A	c.(4720-4722)tTa>tAa	p.L1574*	RBBP6_ENST00000381039.3_Nonsense_Mutation_p.L734*|RBBP6_ENST00000348022.2_Nonsense_Mutation_p.L1540*	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1574					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAGCATGTATTAGAAGCAAGG	0.358000													4	146					0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34814686	34814686	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:34814686A>T	ENST00000265109.3	+	12	1139		c.e12-1		RAI14_ENST00000515799.1_Splice_Site|RAI14_ENST00000397449.1_Splice_Site|RAI14_ENST00000506376.1_Splice_Site|RAI14_ENST00000428746.2_Splice_Site|RAI14_ENST00000512629.1_Splice_Site|RAI14_ENST00000503673.1_Splice_Site	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14							cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TTTCTTTTTTAGTTGAGTGAT	0.368000													4	54					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64389899	64389899	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:64389899A>T	ENST00000262043.3	+	3	584		c.e3-1		PHF3_ENST00000509330.1_Splice_Site|PHF3_ENST00000393387.1_Splice_Site			Q92576	PHF3_HUMAN	PHD finger protein 3						multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTTTTTTTCTAGTTGTTGGTC	0.308000													5	82					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T	rs148404065	by1000genomes	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:43587657C>T	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GGTGACAACACATCTGTTTTA	0.323000													3	49					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32632561	32632561	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:32632561G>A	ENST00000242310.4	-	1	3106	c.3017C>T	c.(3016-3018)aCa>aTa	p.T1006I		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1006					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCCTGTCACTGTCTTCTTCAC	0.453000													13	439					0	0	1	0	0
ARNTL	406	broad.mit.edu	37	11	13375946	13375946	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:13375946A>G	ENST00000389708.3	+	5	446	c.91A>G	c.(91-93)Agt>Ggt	p.S31G	ARNTL_ENST00000361003.4_Missense_Mutation_p.S31G|ARNTL_ENST00000403290.1_Missense_Mutation_p.S31G|ARNTL_ENST00000389707.4_Missense_Mutation_p.S31G|ARNTL_ENST00000401424.1_5'UTR|ARNTL_ENST00000396441.3_Missense_Mutation_p.S31G|ARNTL_ENST00000403510.3_5'UTR			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	31					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TCTTGGTACCAGTGGTGTGGA	0.512000													53	205					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51791649	51791649	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:51791649C>G	ENST00000251076.5	-	18	4059	c.3772G>C	c.(3772-3774)Ggg>Cgg	p.G1258R	DMXL2_ENST00000543779.2_Missense_Mutation_p.G1258R|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1258						cell junction|synaptic vesicle membrane	Rab GTPase binding	p.G1258W(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACCAATATCCCATCTCTTACC	0.413000													237	176					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849825	73849825	+	Silent	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:73849825G>T	ENST00000523207.1	+	3	2823	c.2235G>T	c.(2233-2235)tcG>tcT	p.S745S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	745					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTGACTTTTCGCTCACTACCC	0.567000													5	262					3.59834e-05	3.8151e-05	1	1	0
KRTAP4-12	83755	broad.mit.edu	37	17	39280087	39280087	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:39280087G>A	ENST00000394014.1	-	1	332	c.288C>T	c.(286-288)tgC>tgT	p.C96C		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	96	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament		p.C96C(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGGTGGGCTGGCAGCACACAG	0.667000													4	113					0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57013213	57013213	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:57013213A>C	ENST00000370706.4	+	10	2574	c.2330A>C	c.(2329-2331)aAa>aCa	p.K777T	RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.K777T|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.K777T|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	777					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CAAGTGCACAAAGAAAAGAGT	0.438000													12	38					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771624	143771624	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:143771624G>T	ENST00000408898.2	+	1	350	c.312G>T	c.(310-312)ttG>ttT	p.L104F		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TTCTGTTTTTGAGTTTTGCAC	0.532000													6	454					1.6384e-10	1.7844e-10	1	1	0
RP11-24M17.5	0	broad.mit.edu	37	15	76075500	76075500	+	RNA	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:76075500G>A	ENST00000395215.3	+	0	1140																											gagaggctgcgaaaggaggag	0.607000													5	107					0	0	1	0	0
ENHO	375704	broad.mit.edu	37	9	34521629	34521629	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:34521629A>C	ENST00000399775.2	-	2	490	c.65T>G	c.(64-66)tTg>tGg	p.L22W	RP11-296L22.8_ENST00000439960.1_RNA	NM_198573.2	NP_940975.2	Q6UWT2	ENHO_HUMAN	energy homeostasis associated	22						extracellular region				endometrium(1)|lung(1)	2						CAGCAGCAGCAAGAAGCCCAC	0.632000													12	21					0	0	1	0	0
AAK1	22848	broad.mit.edu	37	2	69708094	69708094	+	Splice_Site	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:69708094C>A	ENST00000409085.4	-	19	2844		c.e19-1		AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1							coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						TCAGCTTTTTCTTTCGTAACA	0.453000													3	39					0.115264	0.116589	1	1	0
ZNF618	114991	broad.mit.edu	37	9	116811976	116811976	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:116811976G>A	ENST00000288466.7	+	14	2214	c.2115G>A	c.(2113-2115)gtG>gtA	p.V705V	ZNF618_ENST00000374126.5_Silent_p.V798V|ZNF618_ENST00000470105.1_3'UTR	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	798					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						ACTTCAAGGTGCACCCGGCCC	0.622000													13	273					0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50869645	50869645	+	Nonstop_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:50869645T>A	ENST00000398473.2	+	16	2285	c.2173T>A	c.(2173-2175)Taa>Aaa	p.*725K	LARP4_ENST00000293618.8_Nonstop_Mutation_p.*654K|LARP4_ENST00000429001.3_Nonstop_Mutation_p.*731K|LARP4_ENST00000518444.1_Nonstop_Mutation_p.*724K|LARP4_ENST00000347328.5_Nonstop_Mutation_p.*654K	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	0							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ATCACCAAAGTAAAAAACAAC	0.448000													6	64					0	0	1	0	0
DCTN5	84516	broad.mit.edu	37	16	23672509	23672509	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:23672509A>T	ENST00000300087.2	+	4	406	c.255A>T	c.(253-255)ttA>ttT	p.L85F	DCTN5_ENST00000568589.1_Missense_Mutation_p.L85F|DCTN5_ENST00000563998.1_Missense_Mutation_p.L85F	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	85						centrosome	transferase activity			endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		TCTTTCCTTTACATATTGGAG	0.383000													4	169					0	0	1	0	0
SNRPB	6628	broad.mit.edu	37	20	2448399	2448399	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:2448399C>A	ENST00000461548.1	-	6	572	c.310G>T	c.(310-312)Ggg>Tgg	p.G104W	SNRPB_ENST00000381342.2_Silent_p.V3V|SNRPB_ENST00000438552.2_Silent_p.V3V|SNRPB_ENST00000339610.6_5'UTR																							TGCTCTTGCCCACCGTCTGCA	0.532000													109	280					2.12867e-53	2.47128e-53	1	1	0
NBPF14	25832	broad.mit.edu	37	1	148012533	148012533	+	Missense_Mutation	SNP	T	T	G	rs144977899		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:148012533T>G	ENST00000369219.1	-	12	1442	c.1426A>C	c.(1426-1428)Aag>Cag	p.K476Q				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5.					cytoplasm		p.E481D(1)|p.K476Q(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CCAACATGCTTTTCCTCCAAT	0.448000													17	2492					0	0	1	0	0
SUMF2	25870	broad.mit.edu	37	7	56142409	56142409	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:56142409C>T	ENST00000434526.2	+	5	603	c.572C>T	c.(571-573)gCc>gTc	p.A191V	SUMF2_ENST00000395436.2_Missense_Mutation_p.A176V|SUMF2_ENST00000275607.9_Missense_Mutation_p.A84V|SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000342190.6_Missense_Mutation_p.A191V|SUMF2_ENST00000413756.1_Missense_Mutation_p.A172V|SUMF2_ENST00000395435.2_Intron	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	172						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGGAGTTTGCCGCCCGAGGG	0.567000											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	323					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25417853	25417853	+	RNA	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:25417853T>C	ENST00000549301.1	+	0	503				SNHG14_ENST00000553149.1_RNA|SNORD115-2_ENST00000362842.1_RNA																							AATAGGATTATGCTGAGGCCC	0.522000													5	58					0	0	1	0	0
WEE2	494551	broad.mit.edu	37	7	141429434	141429434	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:141429434C>T	ENST00000397541.2	+	11	2045	c.1639C>T	c.(1639-1641)Ctg>Ttg	p.L547L	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	547					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CACAAAACGCCTGGTGGGAGG	0.542000													7	279					0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1652508	1652508	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:1652508C>T	ENST00000426508.2	-	4	595	c.232G>A	c.(232-234)Gtg>Atg	p.V78M	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	78										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TCCCAGCCCACAGCCAGCACC	0.617000													47	107					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216380760	216380760	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:216380760T>G	ENST00000366943.2	-	16	3557	c.3171A>C	c.(3169-3171)caA>caC	p.Q1057H	USH2A_ENST00000366942.3_Missense_Mutation_p.Q1057H|USH2A_ENST00000307340.3_Missense_Mutation_p.Q1057H			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1057					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGGCGGAGGTTGCTGGAATG	0.413000										HNSCC(13;0.011)			104	278					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5567392	5567392	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:5567392C>T	ENST00000331789.5	-	6	1306	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	ACTB_ENST00000464611.1_5'UTR	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	372					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GAAGCATTTGCGGTGGACGAT	0.522000													5	888					0	0	1	0	0
CSPG5	10675	broad.mit.edu	37	3	47618421	47618421	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:47618421C>T	ENST00000383738.2	-	2	3193	c.1095G>A	c.(1093-1095)cgG>cgA	p.R365R	CSPG5_ENST00000456150.1_Silent_p.R227R|CSPG5_ENST00000264723.4_Silent_p.R365R	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	365					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AGCCGTTATGCCGCACAAAGC	0.627000													4	77					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48269420	48269420	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:48269420A>T	ENST00000435803.1	+	7	656		c.e7-1			NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13						transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTTGGTTCTAGTTCCTTAAT	0.398000													5	410					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40677921	40677921	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:40677921T>A	ENST00000298910.7	+	19	2544	c.2486T>A	c.(2485-2487)tTa>tAa	p.L829*	LRRK2_ENST00000343742.2_Nonsense_Mutation_p.L829*	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	829					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACTTCTAATTTAAGGAAACAA	0.318000													5	112					0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95158101	95158101	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:95158101A>T	ENST00000354268.4	+	5	610		c.e5-1		SMARCAD1_ENST00000457823.2_Splice_Site			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1						chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TCGTTCTGTTAGTTGATTGAA	0.323000													4	108					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	19955432	19955432	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:19955432A>G	ENST00000396085.1	+	7	2003	c.1642A>G	c.(1642-1644)Aag>Gag	p.K548E	NAV2_ENST00000360655.4_Missense_Mutation_p.K484E|NAV2_ENST00000396087.3_Missense_Mutation_p.K571E|NAV2_ENST00000527559.2_Missense_Mutation_p.K500E|NAV2_ENST00000349880.4_Missense_Mutation_p.K548E|NAV2_ENST00000540292.1_Missense_Mutation_p.K502E	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	571						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CAAAGGGGGGAAGCTCAACAG	0.562000													3	375					0	0	1	0	0
ZNF70	7621	broad.mit.edu	37	22	24086429	24086429	+	Missense_Mutation	SNP	C	C	T	rs149738181	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:24086429C>T	ENST00000341976.3	-	2	1359	c.899G>A	c.(898-900)cGg>cAg	p.R300Q		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	300						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						AGTGTGGATCCGCTGGTGTCG	0.552000													7	745					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31152299	31152299	+	Silent	SNP	G	G	A	rs147474295		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:31152299G>A	ENST00000349752.5	-	11	1752	c.1113C>T	c.(1111-1113)taC>taT	p.Y371Y	GALNT14_ENST00000420311.2_Silent_p.Y336Y|GALNT14_ENST00000406653.1_Silent_p.Y351Y|GALNT14_ENST00000356174.3_Silent_p.Y338Y|GALNT14_ENST00000324589.5_Silent_p.Y376Y|GALNT14_ENST00000486564.1_5'UTR	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	371						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GCCGGGCAGCGTAATAGTATT	0.552000													4	360					0	0	1	0	0
MAP2K7	5609	broad.mit.edu	37	19	7977212	7977212	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:7977212C>A	ENST00000545011.1	+	11	1347	c.1282C>A	c.(1282-1284)Ctg>Atg	p.L428M	MAP2K7_ENST00000397983.3_Missense_Mutation_p.L402M|MAP2K7_ENST00000397979.3_Missense_Mutation_p.L386M|MAP2K7_ENST00000397981.3_Missense_Mutation_p.L393M			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	386					activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	CTACGAGACGCTGGAGGTGGA	0.652000													13	23					0.0931896	0.0946961	1	1	0
C2orf44	80304	broad.mit.edu	37	2	24262247	24262247	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:24262247G>A	ENST00000295148.4	-	2	175	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	C2orf44_ENST00000406895.3_Missense_Mutation_p.R40W	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	40							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGAAGCCGCAAATCAGTT	0.507000			T	ALK	NSCLC								5	545					0	0	1	0	0
APAF1	317	broad.mit.edu	37	12	99100261	99100261	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:99100261A>T	ENST00000357310.1	+	18	3043		c.e18-1		APAF1_ENST00000550527.1_Splice_Site|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000339433.3_Splice_Site|APAF1_ENST00000551964.1_Splice_Site|APAF1_ENST00000549007.1_Splice_Site|APAF1_ENST00000547045.1_Splice_Site|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Splice_Site	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1						activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TTTATTCTGTAGTTGTGGAAT	0.368000													8	483					0	0	1	0	0
MFSD6	54842	broad.mit.edu	37	2	191301590	191301590	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:191301590T>C	ENST00000392328.1	+	3	1159	c.835T>C	c.(835-837)Tat>Cat	p.Y279H	MFSD6_ENST00000281416.7_Missense_Mutation_p.Y279H	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	279					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CATGCTTGTTTATGATCAACA	0.428000													231	577					0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129775610	129775610	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:129775610G>T	ENST00000358825.5	-	21	3433	c.3202C>A	c.(3202-3204)Cct>Act	p.P1068T	PRDM10_ENST00000360871.3_Missense_Mutation_p.P1064T|PRDM10_ENST00000423662.2_Missense_Mutation_p.P969T|PRDM10_ENST00000528746.1_Missense_Mutation_p.P1025T|PRDM10_ENST00000304538.6_Missense_Mutation_p.P931T|PRDM10_ENST00000526082.1_Missense_Mutation_p.P982T	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	1055					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGACCCGGAGGAAGCGTCATC	0.438000													9	117					7.48243e-07	8.04956e-07	1	1	0
MPHOSPH6	10200	broad.mit.edu	37	16	82182372	82182372	+	Silent	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:82182372A>T	ENST00000258169.4	-	5	497	c.447T>A	c.(445-447)atT>atA	p.I149I	MPHOSPH6_ENST00000563504.1_Silent_p.I120I	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	149					M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding			endometrium(1)|large_intestine(1)|lung(3)	5						TCTTTGCTTTAATTGGTGTTA	0.453000													5	283					0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19119239	19119239	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:19119239T>A	ENST00000601879.1	-	6	2636		c.e6-2		SUGP2_ENST00000452918.2_Splice_Site|SUGP2_ENST00000600377.1_Splice_Site|SUGP2_ENST00000337018.6_Splice_Site|SUGP2_ENST00000456085.2_Splice_Site			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2						mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCATGTCAACTACAAAACATA	0.473000													7	638					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241974046	241974046	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:241974046A>G	ENST00000310397.8	+	4	704	c.704A>G	c.(703-705)gAc>gGc	p.D235G	SNED1_ENST00000342631.6_Missense_Mutation_p.D235G|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000401884.1_Missense_Mutation_p.D235G|SNED1_ENST00000405547.3_Missense_Mutation_p.D235G	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	235	NIDO.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CGCACAGCAGACATGGCCGAG	0.672000													2	1					0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45550649	45550649	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr21:45550649C>A	ENST00000291576.7	+	21	2883	c.2756C>A	c.(2755-2757)gCc>gAc	p.A919D		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	919						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GAGATGCTGGCCTAGAGCCAG	0.597000													77	1265					2.12129e-23	2.38712e-23	1	1	0
LRRC32	2615	broad.mit.edu	37	11	76371567	76371567	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:76371567C>T	ENST00000407242.2	-	3	1312	c.1070G>A	c.(1069-1071)cGg>cAg	p.R357Q	LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.R357Q|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.R357Q	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	357						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GCCTAAGCGCCGGGCCTCAAA	0.592000													17	73					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7727281	7727281	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:7727281C>T	ENST00000572933.1	+	75	12919	c.11459C>T	c.(11458-11460)cCt>cTt	p.P3820L	DNAH2_ENST00000389173.2_Missense_Mutation_p.P3820L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3820	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATCGAGCCGCCTGTGCTGAAT	0.602000													3	202					0	0	1	0	0
ERGIC1	57222	broad.mit.edu	37	5	172341926	172341926	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:172341926T>A	ENST00000326654.2	+	3	540	c.325T>A	c.(325-327)Tca>Aca	p.S109T	ERGIC1_ENST00000523291.1_Intron|ERGIC1_ENST00000393784.3_Intron			Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	0					ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTGGAGGCACTCACTCGACCT	0.612000													24	5					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277527	152277527	+	Missense_Mutation	SNP	C	C	T	rs115482787		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:152277527C>T	ENST00000368799.1	-	3	9870	c.9835G>A	c.(9835-9837)Gca>Aca	p.A3279T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3279	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.A3279T(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAGTCTCTGCGTGACGAGTG	0.602000									Ichthyosis				7	1045					0	0	1	0	0
HOMER1	9456	broad.mit.edu	37	5	78697880	78697880	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:78697880T>A	ENST00000334082.6	-	6	1970		c.e6-2		HOMER1_ENST00000282260.6_Intron|HOMER1_ENST00000508576.1_Intron|HOMER1_ENST00000535690.1_Splice_Site	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)						activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		ATTGCTGAACTAAAATAAAAC	0.408000													7	69					0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17611604	17611604	+	Silent	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:17611604A>T	ENST00000381869.3	-	2	2186	c.1713T>A	c.(1711-1713)atT>atA	p.I571I	MTUS1_ENST00000519263.1_Silent_p.I571I|MTUS1_ENST00000262102.6_Silent_p.I571I|MTUS1_ENST00000381862.3_Silent_p.I571I	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	571						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GTGTCTTGTTAATTAGAATTT	0.393000													5	254					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6076766	6076766	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:6076766G>A	ENST00000261405.5	-	47	8027	c.7773C>T	c.(7771-7773)ccC>ccT	p.P2591P		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2591	VWFC 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGTCTTCCCGGGCTGGAAGC	0.622000													4	610					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38797338	38797338	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:38797338C>A	ENST00000449082.2	-	10	1401	c.1402G>T	c.(1402-1404)Gag>Tag	p.E468*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	468					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTGGAGCCCTCTGACACTCTT	0.478000													153	437					1.29601e-68	1.51258e-68	1	1	0
CFDP1	10428	broad.mit.edu	37	16	75448560	75448560	+	Nonsense_Mutation	SNP	A	A	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:75448560A>C	ENST00000283882.3	-	2	230	c.98T>G	c.(97-99)tTa>tGa	p.L33*	CFDP1_ENST00000564286.1_5'UTR|RP11-77K12.1_ENST00000561887.1_Intron|RP11-77K12.1_ENST00000567194.1_Nonsense_Mutation_p.L90*	NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN	craniofacial development protein 1	33	Glu-rich.				multicellular organismal development					endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						TTCCTTCACTAATTCATTTAC	0.413000													4	158					0	0	1	0	0
CCDC112	153733	broad.mit.edu	37	5	114607213	114607213	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:114607213A>T	ENST00000379611.5	-	7	1316	c.1029T>A	c.(1027-1029)aaT>aaA	p.N343K	CCDC112_ENST00000506442.1_Missense_Mutation_p.N260K|CCDC112_ENST00000512261.1_Missense_Mutation_p.N260K|CCDC112_ENST00000395557.4_Missense_Mutation_p.N260K	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	260										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		tttgcttttgattatcctctt	0.338000													4	75					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196636399	196636399	+	Silent	SNP	A	A	T	rs57513754		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:196636399A>T	ENST00000312428.6	-	61	11518	c.11418T>A	c.(11416-11418)atT>atA	p.I3806I	DNAH7_ENST00000409063.1_Silent_p.I289I	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3806					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGCTTTTTGAATATTTACGC	0.338000													5	252					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16359478	16359478	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:16359478G>C	ENST00000354981.2	-	19	3326	c.3169C>G	c.(3169-3171)Cag>Gag	p.Q1057E	KIF16B_ENST00000408042.1_Missense_Mutation_p.Q1057E|KIF16B_ENST00000355755.3_Missense_Mutation_p.Q1057E|KIF16B_ENST00000378003.2_Missense_Mutation_p.Q283E	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1057	Glu-rich.			EQ -> SE (in Ref. 6; AAH34984).	cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.Q1057*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AGGGCTTCCTGCTCAGCCTCC	0.557000													207	427					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6170533	6170533	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:6170533A>T	ENST00000262450.3	-	37	5402	c.5303T>A	c.(5302-5304)cTc>cAc	p.L1768H	CHD5_ENST00000378021.1_Missense_Mutation_p.L625H	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1768					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGGCTCGTTGAGGATCATGTA	0.572000													55	17					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107336393	107336393	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:107336393A>T	ENST00000265715.3	+	13	1677	c.1453A>T	c.(1453-1455)Acg>Tcg	p.T485S	SLC26A4_ENST00000543100.1_Missense_Mutation_p.T54S|SLC26A4_ENST00000541474.1_Missense_Mutation_p.T46S|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000544569.1_Missense_Mutation_p.T72S	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	485					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTGGGTGTTTACGTGTATAGT	0.368000									Pendred syndrome				11	578					0	0	1	0	0
LYAR	55646	broad.mit.edu	37	4	4276152	4276152	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:4276152G>T	ENST00000343470.4	-	7	1014	c.774C>A	c.(772-774)agC>agA	p.S258R	LYAR_ENST00000452476.1_Missense_Mutation_p.S258R	NM_017816.2	NP_060286.1	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	258	Lys-rich.					nucleolus	metal ion binding|protein binding			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCTCACTGGCGCTGTCCTTGC	0.602000													26	846					3.73148e-12	4.0842e-12	1	1	0
CENPV	201161	broad.mit.edu	37	17	16252001	16252001	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:16252001T>A	ENST00000476243.1	-	3	1175	c.46A>T	c.(46-48)Agt>Tgt	p.S16C	CENPV_ENST00000299736.4_Splice_Site|PIGL_ENST00000581006.1_Intron			Q7Z7K6	CENPV_HUMAN	centromere protein V	173					cell division|centromeric heterochromatin formation|mitosis|positive regulation of cytokinesis|regulation of chromosome organization	condensed chromosome kinetochore|cytoplasm|nucleus|spindle midzone	carbon-sulfur lyase activity			endometrium(1)|large_intestine(2)	3						ATGCTGCAACTACAGAAAGAC	0.517000													4	116					0	0	1	0	0
ZMAT2	153527	broad.mit.edu	37	5	140083501	140083501	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:140083501A>T	ENST00000274712.3	+	4	363		c.e4-1			NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2							nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCCTGTTAGATATTACTG	0.368000													6	397					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78515718	78515718	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:78515718A>T	ENST00000397909.2	+	16	3922		c.e16-1		NAV3_ENST00000228327.6_Splice_Site|NAV3_ENST00000536525.2_Splice_Site|NAV3_ENST00000266692.7_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3							nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTTTTCTTTTAGGTTGTTTGG	0.423000										HNSCC(70;0.22)			5	236					0	0	1	0	0
GALNT2	2590	broad.mit.edu	37	1	230391013	230391013	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:230391013G>A	ENST00000541865.1	+	9	871	c.685G>A	c.(685-687)Gtg>Atg	p.V229M	GALNT2_ENST00000543760.1_Silent_p.P315P|GALNT2_ENST00000366672.4_Silent_p.P353P			Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	85	Catalytic subdomain A.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				AGATCATCCCGTGCAGCCGTG	0.607000													5	576					0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34666597	34666597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:34666597C>T	ENST00000488417.1	+	3	1354	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	C1orf94_ENST00000373374.3_Nonsense_Mutation_p.R222*	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	222							protein binding	p.R222*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GCCGAGACTTCGAAACAAAGT	0.577000													11	31					0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271141	59271141	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:59271141A>T	ENST00000313253.1	+	1	93	c.93A>T	c.(91-93)ttA>ttT	p.L31F		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TTCTTTTTTTATGTCTTGTGT	0.448000													5	221					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50122701	50122701	+	RNA	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:50122701A>G	ENST00000376025.2	-	0	2845							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AATGCCTTGCAGGTTTGGCAA	0.443000													5	420					0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9583639	9583639	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:9583639A>T	ENST00000570827.2	+	6	1202	c.128A>T	c.(127-129)tAt>tTt	p.Y43F	USP43_ENST00000285199.6_Missense_Mutation_p.Y354F|USP43_ENST00000575346.1_3'UTR|USP43_ENST00000570475.1_Missense_Mutation_p.Y354F			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	354					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GATAATGTGTATGCCTTTCAA	0.453000													4	154					0	0	1	0	0
BRF2	55290	broad.mit.edu	37	8	37704498	37704498	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:37704498G>A	ENST00000220659.6	-	3	530	c.410C>T	c.(409-411)gCc>gTc	p.A137V	BRF2_ENST00000521170.1_3'UTR|BRF2_ENST00000520601.1_Missense_Mutation_p.A137V	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	137					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CGTGCAGATGGCCCCCATTGT	0.532000													8	932					0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38128989	38128989	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr21:38128989A>T	ENST00000399120.1	-	11	3093	c.1863T>A	c.(1861-1863)aaT>aaA	p.N621K	HLCS_ENST00000336648.3_Missense_Mutation_p.N621K	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	621					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TGTGTTGTTTATTGTATTCTG	0.443000													7	617					0	0	1	0	0
FBXO9	26268	broad.mit.edu	37	6	52945779	52945779	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:52945779G>A	ENST00000244426.6	+	5	623	c.451G>A	c.(451-453)Gat>Aat	p.D151N	FBXO9_ENST00000370939.3_Missense_Mutation_p.D107N|FBXO9_ENST00000323557.7_Missense_Mutation_p.D141N	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	151						ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					TGAAGATAATGATGATGACAG	0.398000													6	58					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	48019414	48019414	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:48019414G>A	ENST00000426837.2	-	4	371	c.284C>T	c.(283-285)tCt>tTt	p.S95F	MAP4_ENST00000395734.3_Missense_Mutation_p.S78F|MAP4_ENST00000439356.1_Missense_Mutation_p.S78F|MAP4_ENST00000360240.6_Missense_Mutation_p.S78F|MAP4_ENST00000383737.4_Missense_Mutation_p.S78F|MAP4_ENST00000434267.1_Missense_Mutation_p.S78F			P27816	MAP4_HUMAN	microtubule-associated protein 4	78					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TGGTTTAGAAGATGGAGTATC	0.408000													102	125					0	0	1	0	0
TRIM68	55128	broad.mit.edu	37	11	4621656	4621656	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:4621656G>T	ENST00000300747.5	-	7	1597	c.1308C>A	c.(1306-1308)ttC>ttA	p.F436L		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	436	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCACATTGTAGAAAGAAATGT	0.547000													6	154					0.0215528	0.0220028	1	1	0
NF1	4763	broad.mit.edu	37	17	29687570	29687570	+	Nonsense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:29687570C>G	ENST00000358273.4	+	57	8609	c.8226C>G	c.(8224-8226)taC>taG	p.Y2742*	NF1_ENST00000444181.2_Nonsense_Mutation_p.Y535*|NF1_ENST00000356175.3_Nonsense_Mutation_p.Y2721*|NF1_ENST00000417592.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2742					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTGACACGTACCTGCCTGGAA	0.428000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			109	141					0	0	1	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113219494	113219494	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr13:113219494T>A	ENST00000261965.3	-	3	371		c.e3-2		TUBGCP3_ENST00000375669.3_Splice_Site	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3						G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GTCGAATAACTGAAAAGACAG	0.363000													7	311					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771625	143771625	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:143771625A>T	ENST00000408898.2	+	1	351	c.313A>T	c.(313-315)Agt>Tgt	p.S105C		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TCTGTTTTTGAGTTTTGCACA	0.527000													6	456					0	0	1	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123678961	123678961	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:123678961A>T	ENST00000606320.1	-	13	2419	c.2213T>A	c.(2212-2214)cTa>cAa	p.L738Q	MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.L586Q|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.L708Q|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.L586Q			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	586					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CTCTTGTTTTAGTTGAGCTTC	0.308000													3	20					0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71129001	71129001	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:71129001T>A	ENST00000452400.2	-	3	163		c.e3-2			NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2						cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TATCAGCAACTAAAACAGAAA	0.408000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								5	90					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156746796	156746796	+	Translation_Start_Site	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:156746796G>A	ENST00000442283.2	+	0	1520				CYFIP2_ENST00000541131.1_Silent_p.Q386Q|CYFIP2_ENST00000521420.1_Silent_p.Q435Q|CYFIP2_ENST00000522463.1_Silent_p.Q265Q|CYFIP2_ENST00000435847.2_Silent_p.Q135Q|CYFIP2_ENST00000347377.6_Silent_p.Q461Q|CYFIP2_ENST00000318218.6_Silent_p.Q461Q|CYFIP2_ENST00000377576.3_Silent_p.Q461Q	NM_001037333.1	NP_001032410.1	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2						apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGGCCTGCAGGTGCTCATGG	0.602000													176	318					0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44492932	44492932	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:44492932T>C	ENST00000425708.2	-	3	813	c.472A>G	c.(472-474)Aca>Gca	p.T158A	ZNF445_ENST00000396077.2_Missense_Mutation_p.T158A			P59923	ZN445_HUMAN	zinc finger protein 445	158					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AGGGCTCCTGTACCCATCCAA	0.547000													9	1288					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90125915	90125915	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:90125915A>T	ENST00000268138.7	+	2	759		c.e2-1		TICRR_ENST00000560985.1_Splice_Site|RP11-429B14.1_ENST00000559041.1_RNA					TOPBP1-interacting checkpoint and replication regulator																		GTTTTATTTTAGTTGTGGGAA	0.398000													5	94					0	0	1	0	0
EIF3L	51386	broad.mit.edu	37	22	38259287	38259287	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:38259287G>C	ENST00000412331.2	+	7	1096	c.514G>C	c.(514-516)Ggt>Cgt	p.G172R	EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000381683.6_Intron|EIF3L_ENST00000406934.1_Missense_Mutation_p.G74R	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	172						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGATGCCGATGGTCCTGCTCC	0.443000													59	119					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7172406	7172406	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:7172406A>T	ENST00000406697.1	+	9	1148	c.520A>T	c.(520-522)Aat>Tat	p.N174Y	C1S_ENST00000328916.3_Missense_Mutation_p.N174Y|C1S_ENST00000360817.5_Missense_Mutation_p.N174Y|C1S_ENST00000402681.3_Missense_Mutation_p.N7Y			P09871	C1S_HUMAN	complement component 1, s subcomponent	174					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TCTGTTAGTTAATTGCAGTGG	0.423000													7	252					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215868936	215868936	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:215868936G>T	ENST00000272895.7	-	20	2899	c.2680C>A	c.(2680-2682)Ctc>Atc	p.L894I	ABCA12_ENST00000389661.4_Missense_Mutation_p.L576I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	894					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GACTCACCGAGTTCATCTATC	0.363000													21	35					3.5997e-14	3.96959e-14	1	1	0
DHRS7B	25979	broad.mit.edu	37	17	21094259	21094259	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:21094259A>T	ENST00000395511.3	+	7	1092		c.e7-1		DHRS7B_ENST00000579303.1_Splice_Site|DHRS7B_ENST00000581463.1_Intron	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B							integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						TATTTATTTTAGTTATGGACA	0.517000													6	106					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11001152	11001152	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:11001152G>A	ENST00000324288.8	+	11	1936	c.1803G>A	c.(1801-1803)cgG>cgA	p.R601R	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	601	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCCGGGACCGGCCACTTCTTC	0.622000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								3	102					0	0	1	0	0
CERS6	253782	broad.mit.edu	37	2	169622847	169622847	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:169622847C>T	ENST00000392687.4	+	10	1218	c.1018C>T	c.(1018-1020)Cct>Tct	p.P340S	CERS6_ENST00000305747.6_Intron	NM_001256126.1	NP_001243055.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	334						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GAAGTGGAACCCTTTACATGT	0.468000													51	131					0	0	1	0	0
PHTF1	10745	broad.mit.edu	37	1	114252891	114252891	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:114252891C>A	ENST00000369604.1	-	11	1737	c.1254G>T	c.(1252-1254)gaG>gaT	p.E418D	PHTF1_ENST00000369600.1_Missense_Mutation_p.E365D|PHTF1_ENST00000393357.2_Missense_Mutation_p.E418D|PHTF1_ENST00000447664.2_3'UTR|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369596.2_Missense_Mutation_p.E365D|PHTF1_ENST00000369598.1_Missense_Mutation_p.E373D|PHTF1_ENST00000357783.2_Missense_Mutation_p.E418D			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	418						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAAAACATCCTCTTTGGGGT	0.473000													48	95					4.0306e-16	4.46716e-16	1	1	0
FOXK1	221937	broad.mit.edu	37	7	4796681	4796681	+	Silent	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:4796681C>G	ENST00000328914.4	+	5	1107	c.1107C>G	c.(1105-1107)tcC>tcG	p.S369S	FOXK1_ENST00000446823.1_Silent_p.S206S	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	369					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		TCCCACGTTCCCAGGAGGAGC	0.527000													7	86					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133931619	133931619	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:133931619A>T	ENST00000220616.4	+	21	4418		c.e21-1		TG_ENST00000377869.1_Splice_Site	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin						hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTTTTTTTCTAGTTAAGTGTC	0.418000													8	108					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32833840	32833840	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:32833840T>A	ENST00000397452.1	-	8	766		c.e8-2		BPIFC_ENST00000432451.2_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C							extracellular region	lipopolysaccharide binding|phospholipid binding										TGGTTAAAACTAAATAACCAA	0.303000													5	68					0	0	1	0	0
FBXO7	25793	broad.mit.edu	37	22	32879882	32879882	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:32879882A>T	ENST00000266087.7	+	3	744		c.e3-1		FBXO7_ENST00000382058.3_Splice_Site|FBXO7_ENST00000397426.1_Splice_Site	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7						cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCTTTTTCAGTTAGGGCCT	0.353000													8	167					0	0	1	0	0
SMARCA1	6594	broad.mit.edu	37	X	128624166	128624166	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:128624166G>A	ENST00000371122.4	-	15	1948	c.1819C>T	c.(1819-1821)Cga>Tga	p.R607*	SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.R595*|SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.R595*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	607	Helicase C-terminal.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CGATGTGCTCGATCCTAGTAG	0.328000													44	110					0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9225264	9225264	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:9225264C>T	ENST00000328194.3	-	4	1212	c.892G>A	c.(892-894)Gtg>Atg	p.V298M	DENND5A_ENST00000530044.1_Missense_Mutation_p.V298M	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	298	DENN.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGCTGAAACACATTCTCCACC	0.478000													12	156					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48808494	48808494	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:48808494G>T	ENST00000316623.5	-	11	1668	c.1213C>A	c.(1213-1215)Ccc>Acc	p.P405T		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	405	Pro-rich.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGGCCAAGGGGTGGGGGAGGA	0.498000													48	127					1.21353e-23	1.36912e-23	1	1	0
ATP11A	23250	broad.mit.edu	37	13	113516849	113516849	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr13:113516849A>T	ENST00000487903.1	+	25	3039	c.2951A>T	c.(2950-2952)tAt>tTt	p.Y984F	ATP11A_ENST00000375645.3_Missense_Mutation_p.Y984F|ATP11A_ENST00000375630.2_Missense_Mutation_p.Y984F|ATP11A_ENST00000283558.8_Missense_Mutation_p.Y984F			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	984					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TTTGGTGCTTATTTCGTGTTT	0.527000													4	69					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196720569	196720569	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:196720569A>T	ENST00000312428.6	-	45	8661	c.8561T>A	c.(8560-8562)tTa>tAa	p.L2854*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2854	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGTTTATTTAATTCAAGTGT	0.418000													6	603					0	0	1	0	0
TCF23	150921	broad.mit.edu	37	2	27373157	27373157	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:27373157G>A	ENST00000296096.5	+	2	519	c.389G>A	c.(388-390)cGc>cAc	p.R130H		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	130	Helix-loop-helix motif.				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTCACCCGCACACTCGGC	0.652000													4	386					0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131212796	131212796	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:131212796T>A	ENST00000298542.4	-	12	1424	c.1249A>T	c.(1249-1251)Att>Ttt	p.I417F	FRMD7_ENST00000370879.1_Missense_Mutation_p.I297F|FRMD7_ENST00000464296.1_Missense_Mutation_p.I402F	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	417					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TCCATATAAATAAAAGGGAAA	0.463000													4	189					0	0	1	0	0
MUC13	56667	broad.mit.edu	37	3	124646473	124646473	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:124646473A>T	ENST00000311075.3	-	2	455	c.417T>A	c.(415-417)agT>agA	p.S139R		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	139	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TTTCATTGTTACTTTGTGTTT	0.438000													7	322					0	0	1	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011562	46011562	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr21:46011562G>C	ENST00000400368.1	-	1	824	c.804C>G	c.(802-804)caC>caG	p.H268Q	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	268	29 X 5 AA repeats of C-C-X(3).					keratin filament		p.H268Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CACAGCAGGCGTGCTGGCAGG	0.642000													6	508					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	G	A	rs146082308		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:7810767G>A	ENST00000315599.7	-	4	407	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Intron|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.R129W(4)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCGGGTCAGCTCC	0.567000													7	609					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32632433	32632433	+	Missense_Mutation	SNP	G	G	A	rs141135220		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:32632433G>A	ENST00000242310.4	-	1	3234	c.3145C>T	c.(3145-3147)Cgc>Tgc	p.R1049C		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1049					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.R1049C(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GACATTGTGCGCACCACATCA	0.473000													4	436					0	0	1	0	0
CCDC181	57821	broad.mit.edu	37	1	169390644	169390644	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:169390644A>T	ENST00000545005.1	-	4	1532	c.1025T>A	c.(1024-1026)cTa>cAa	p.L342Q	CCDC181_ENST00000367805.3_Missense_Mutation_p.L342Q|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Missense_Mutation_p.L342Q					coiled-coil domain containing 181																		TTGTTTTTGTAGTTCTTTCTG	0.363000													5	210					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													4	19					0	0	1	0	0
CCDC91	55297	broad.mit.edu	37	12	28458580	28458580	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:28458580A>T	ENST00000545336.1	+	7	528		c.e7-1		CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site|CCDC91_ENST00000381256.1_Splice_Site			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91						protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GTTTTTCTTTAGTATCTGGAG	0.393000													10	480					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120756635	120756635	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:120756635T>A	ENST00000378164.2	-	24	3407		c.e24-2			NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa						G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACTGGAAAACTAAAACACACA	0.378000													5	169					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28895678	28895678	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr13:28895678C>A	ENST00000282397.4	-	23	3347	c.3096G>T	c.(3094-3096)gaG>gaT	p.E1032D	FLT1_ENST00000540678.1_Missense_Mutation_p.E250D|FLT1_ENST00000543394.1_Missense_Mutation_p.E55D	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1032	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CCACGTTGTTCTCAGATAAAA	0.373000													4	154					0.000602214	0.000627901	1	1	0
OR4K13	390433	broad.mit.edu	37	14	20502562	20502562	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:20502562G>A	ENST00000315693.2	-	1	357	c.356C>T	c.(355-357)gCa>gTa	p.A119V		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CCTGTCTATTGCCATGGCTAC	0.498000													6	807					0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188223858	188223858	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:188223858T>A	ENST00000409998.1	-	13	1624		c.e13-2		AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Splice_Site|CALCRL_ENST00000410068.1_Splice_Site			Q16602	CALRL_HUMAN	calcitonin receptor-like							integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			ATCCAGCAACTAGAGAAAACA	0.303000													6	225					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11076335	11076335	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:11076335C>A	ENST00000287766.4	+	15	2067	c.1646C>A	c.(1645-1647)cCc>cAc	p.P549H	SLC6A1_ENST00000536032.1_Missense_Mutation_p.P371H	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	549					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GTCCTCATCCCCGGGTACATG	0.572000													7	230					0.0477658	0.0486503	1	1	0
SMYD2	56950	broad.mit.edu	37	1	214507541	214507541	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:214507541A>T	ENST00000366957.5	+	11	1134		c.e11-1		SMYD2_ENST00000415093.2_Splice_Site|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2						negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		CTCTTGTTCTAGTAAGCACTA	0.572000													5	303					0	0	1	0	0
TNK1	8711	broad.mit.edu	37	17	7291835	7291835	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:7291835G>T	ENST00000570896.1	+	12	2034	c.1588G>T	c.(1588-1590)Ggc>Tgc	p.G530C	TNK1_ENST00000576812.1_Missense_Mutation_p.G535C|TNK1_ENST00000311668.2_Missense_Mutation_p.G530C			Q13470	TNK1_HUMAN	tyrosine kinase, non-receptor, 1	535	Pro-rich.				protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				GGGACCTCCAGGCCTGCCTCC	0.612000													25	33					3.7963e-18	4.23953e-18	1	1	0
LGALS2	3957	broad.mit.edu	37	22	37966589	37966589	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:37966589C>A	ENST00000215886.4	-	3	417	c.243G>T	c.(241-243)gaG>gaT	p.E81D		NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	81	Galectin.									breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					TCACCTTGACCTCTGACCCTG	0.582000													7	347					0.00198382	0.00205868	1	1	0
ENO3	2027	broad.mit.edu	37	17	4858509	4858509	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:4858509T>C	ENST00000323997.6	+	7	716	c.584T>C	c.(583-585)gTc>gCc	p.V195A	ENO3_ENST00000519584.1_Missense_Mutation_p.V152A|ENO3_ENST00000518175.1_Missense_Mutation_p.V195A	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	195					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						CTCAAGGGGGTCATCAAGGCC	0.572000													9	700					0	0	1	0	0
PAK1IP1	55003	broad.mit.edu	37	6	10709469	10709469	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:10709469A>T	ENST00000379568.3	+	10	1255		c.e10-1			NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1						negative regulation of signal transduction	nucleolus|plasma membrane				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				TTTGTGTTTTAGTAAGTAAAG	0.368000													4	51					0	0	1	0	0
ENO1	2023	broad.mit.edu	37	1	8926510	8926510	+	Missense_Mutation	SNP	C	C	A	rs11544509		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:8926510C>A	ENST00000234590.4	-	7	614	c.495G>T	c.(493-495)atG>atT	p.M165I		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	165	Required for repression of c-myc promoter activity.				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TGAACTCCTGCATGGCCAGCT	0.547000													299	150					4.02062e-123	4.71752e-123	1	1	0
ABCC8	6833	broad.mit.edu	37	11	17426095	17426095	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:17426095C>T	ENST00000302539.4	-	28	3649	c.3524G>A	c.(3523-3525)tGc>tAc	p.C1175Y	ABCC8_ENST00000389817.3_Missense_Mutation_p.C1174Y	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1174	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GATGAAGTAGCACACGATGGC	0.597000													8	149					0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156843581	156843581	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:156843581C>A	ENST00000368196.3	+	8	1127	c.1007C>A	c.(1006-1008)gCa>gAa	p.A336E	NTRK1_ENST00000392302.2_Missense_Mutation_p.A306E|NTRK1_ENST00000358660.3_Missense_Mutation_p.A336E|NTRK1_ENST00000524377.1_Missense_Mutation_p.A336E	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	336	Ig-like C2-type 2.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.A336E(3)|p.A306E(3)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CTGGAGCCGGCAGCCAATGAG	0.622000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			4	45					1	1	1	1	0
MGAM	8972	broad.mit.edu	37	7	141759688	141759688	+	Silent	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:141759688T>C	ENST00000475668.2	+	33	4035	c.3981T>C	c.(3979-3981)ccT>ccC	p.P1327P	MGAM_ENST00000549489.2_Silent_p.P1327P			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1327	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.P1327P(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGACACAGCCTTATCCTGCCT	0.463000													3	66					0	0	1	0	0
MAVS	57506	broad.mit.edu	37	20	3845153	3845153	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:3845153C>T	ENST00000428216.2	+	6	1004	c.876C>T	c.(874-876)aaC>aaT	p.N292N	MAVS_ENST00000416600.2_Silent_p.N151N|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	292					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CACCTGCCAACTCTCTGCCCT	0.602000													12	44					0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42311445	42311445	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:42311445C>T	ENST00000217026.4	+	4	325	c.198C>T	c.(196-198)gaC>gaT	p.D66D	MYBL2_ENST00000396863.4_Silent_p.D42D	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	66	HTH myb-type 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACCGCACTGACCAGCAATGCC	0.527000													25	1469					0	0	1	0	0
PDP2	57546	broad.mit.edu	37	16	66918367	66918367	+	Silent	SNP	C	C	T	rs79985162		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:66918367C>T	ENST00000311765.2	+	2	514	c.180C>T	c.(178-180)tgC>tgT	p.C60C	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	60					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		TTACTCTGTGCAAAGCCTACA	0.473000													22	187					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26703722	26703722	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:26703722C>G	ENST00000272371.2	-	15	1861	c.1735G>C	c.(1735-1737)Gac>Cac	p.D579H	OTOF_ENST00000403946.3_Missense_Mutation_p.D579H	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	579					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGAGGTGTCTACGATCTCC	0.662000													5	17					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62451127	62451127	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:62451127T>A	ENST00000383710.4	-	26	3902		c.e26-2		CADPS_ENST00000462768.1_Splice_Site|CADPS_ENST00000357948.3_Splice_Site|CADPS_ENST00000283269.9_Splice_Site	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator						exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AGTAACGAACTAGAAAAACAG	0.368000													7	137					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29556075	29556075	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:29556075G>A	ENST00000358273.4	+	21	2825	c.2442G>A	c.(2440-2442)aaG>aaA	p.K814K	NF1_ENST00000356175.3_Silent_p.K814K	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	814					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCATTGTTAAGAGGCGAATGT	0.418000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			68	87					0	0	1	0	0
CEP63	80254	broad.mit.edu	37	3	134277147	134277147	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:134277147C>G	ENST00000337090.3	+	13	1804	c.1631C>G	c.(1630-1632)cCa>cGa	p.P544R	CEP63_ENST00000354446.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.P544R|CEP63_ENST00000513612.2_Missense_Mutation_p.P544R|CEP63_ENST00000383229.3_Intron			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	544					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATCTTTAAACCAACACACAGC	0.299000													13	93					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91667731	91667731	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:91667731A>T	ENST00000359028.2	+	18	4599		c.e18-1		AKAP9_ENST00000358100.2_Splice_Site|AKAP9_ENST00000356239.3_Splice_Site			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9						G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTATTTCTTTAGGTTATTGTG	0.299000			T	BRAF	papillary thyroid								5	43					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135042	156135042	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:156135042A>T	ENST00000329476.3	+	2	441		c.e2-1		NPY2R_ENST00000506608.1_Splice_Site	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2						cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				ttTTCTTTTTAGGTTGTAGAC	0.398000													5	55					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324633	152324633	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:152324633T>C	ENST00000388718.5	-	3	5701	c.5629A>G	c.(5629-5631)Aga>Gga	p.R1877G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1877							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCAGATCTCCTTCTTCCA	0.507000													8	1219					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G														p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000													7	197					0	0	1	0	0
ZNF577	84765	broad.mit.edu	37	19	52381753	52381753	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:52381753C>A	ENST00000420592.1	-	4	1409	c.76G>T	c.(76-78)Gaa>Taa	p.E26*	ZNF577_ENST00000485702.1_5'UTR|ZNF577_ENST00000451628.2_Nonsense_Mutation_p.E26*|ZNF577_ENST00000301399.5_Nonsense_Mutation_p.E26*|ZNF577_ENST00000412216.1_Nonsense_Mutation_p.E26*			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCCACATCTTCGAATGACAAT	0.453000													22	675					1.7367e-05	1.84577e-05	1	1	0
TUBB1	81027	broad.mit.edu	37	20	57599336	57599336	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:57599336C>T	ENST00000217133.1	+	4	1123	c.854C>T	c.(853-855)tCc>tTc	p.S285F		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	285					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CGAGCCCTCTCCGTGGCCGAG	0.647000													56	72					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92732553	92732553	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:92732553G>A	ENST00000379958.2	-	3	3127	c.2858C>T	c.(2857-2859)aCa>aTa	p.T953I		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	953						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AAATTTTTCTGTCCCCCAGAA	0.398000													3	119					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106975178	106975178	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:106975178A>T	ENST00000369066.3	+	5	3675		c.e5-1			NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1								sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TTTTATTGTTAGTTGGATTTT	0.358000													5	112					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32541886	32541886	+	Silent	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:32541886A>T	ENST00000360538.2	-	3	2753	c.2637T>A	c.(2635-2637)acT>acA	p.T879T	TOPORS_ENST00000379858.1_Silent_p.T814T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	879	Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		tATGGTGTTTAGTTGTATCAG	0.383000													8	199					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419890	105419890	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:105419890A>T	ENST00000333244.5	-	7	2017	c.1898T>A	c.(1897-1899)tTa>tAa	p.L633*	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	633						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTGTCTTTTAATCCTTCCTC	0.413000													6	182					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343613	248343613	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:248343613G>A	ENST00000359682.2	+	1	326	c.326G>A	c.(325-327)gGc>gAc	p.G109D		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCACTGTCTGGCTCTGAATGT	0.413000													8	488					0	0	1	0	0
AICDA	57379	broad.mit.edu	37	12	8758017	8758017	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:8758017C>T	ENST00000229335.6	-	3	324	c.221G>A	c.(220-222)cGc>cAc	p.R74H	AICDA_ENST00000537228.1_Missense_Mutation_p.R74H	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	74					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GCGGTAGCAGCGGCCAGGGTC	0.602000													73	188					0	0	1	0	0
CCDC41	51134	broad.mit.edu	37	12	94772668	94772668	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:94772668A>T	ENST00000397809.5	-	7	1249	c.700T>A	c.(700-702)Tta>Ata	p.L234I	CCDC41_ENST00000339839.5_Missense_Mutation_p.L234I|CCDC41_ENST00000547575.1_Missense_Mutation_p.L234I|CCDC41_ENST00000397807.2_Missense_Mutation_p.L201I|CCDC41_ENST00000549352.1_5'UTR	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	226										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TCAGCCTTTAATTCCGCTACT	0.438000													104	176					0	0	1	0	0
ENO3	2027	broad.mit.edu	37	17	4858898	4858898	+	Splice_Site	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:4858898T>C	ENST00000323997.6	+	8	996	c.865_splice	c.e8+1	p.P288_splice	ENO3_ENST00000519584.1_Splice_Site_p.P245_splice|ENO3_ENST00000518175.1_Splice_Site_p.P288_splice	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	288					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						AGAACTATCCTGGTGAGGCGT	0.522000													9	953					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25058816	25058816	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr13:25058816C>T	ENST00000381989.3	-	12	1528	c.1423G>A	c.(1423-1425)Ggg>Agg	p.G475R		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	475	PARP catalytic.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AAATAAATCCCACTTCCAAGG	0.428000													13	193					0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33411389	33411389	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:33411389G>A	ENST00000418600.2	+	15	3161	c.3060G>A	c.(3058-3060)cgG>cgA	p.R1020R	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Silent_p.R1020R|SYNGAP1_ENST00000428982.2_Silent_p.R961R	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	1020					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TCACCCGTCGGCAGCTTTCAC	0.627000													6	528					0	0	1	0	0
AREL1	9870	broad.mit.edu	37	14	75142487	75142487	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:75142487T>C	ENST00000356357.4	-	8	1510	c.995A>G	c.(994-996)gAg>gGg	p.E332G	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		TTCATCTTCCTCGTCAACAGC	0.527000													4	603					0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129854431	129854431	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:129854431T>A	ENST00000254667.3	+	7	744	c.465T>A	c.(463-465)aaT>aaA	p.N155K	PTPRE_ENST00000471218.1_3'UTR|PTPRE_ENST00000430713.2_Intron|PTPRE_ENST00000306042.5_Missense_Mutation_p.N97K|PTPRE_ENST00000419012.2_Missense_Mutation_p.N155K	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	155	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				AACTGGCAAATAAAGAAGAAA	0.358000													7	169					0	0	1	0	0
INTS12	57117	broad.mit.edu	37	4	106604071	106604071	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:106604071C>A	ENST00000451321.2	-	7	1687	c.1208G>T	c.(1207-1209)gGg>gTg	p.G403V	INTS12_ENST00000340139.5_Missense_Mutation_p.G403V|INTS12_ENST00000394735.1_Missense_Mutation_p.G403V	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	403	Ser-rich.				snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		ATTTCCATTCCCACTTAGTTG	0.463000													4	218					0.014758	0.0151012	1	1	0
LPHN3	23284	broad.mit.edu	37	4	62598838	62598838	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:62598838C>T	ENST00000512091.1	+	7	1508	c.761C>T	c.(760-762)cCt>cTt	p.P254L	LPHN3_ENST00000507164.1_Missense_Mutation_p.P322L|LPHN3_ENST00000508946.1_Missense_Mutation_p.P254L|LPHN3_ENST00000509896.1_Missense_Mutation_p.P322L|LPHN3_ENST00000504896.1_Missense_Mutation_p.P254L|LPHN3_ENST00000514996.1_Missense_Mutation_p.P254L|LPHN3_ENST00000506746.1_Missense_Mutation_p.P322L|LPHN3_ENST00000511324.1_Missense_Mutation_p.P322L|LPHN3_ENST00000545650.1_Missense_Mutation_p.P254L|LPHN3_ENST00000506700.1_Missense_Mutation_p.P254L|LPHN3_ENST00000508693.1_Missense_Mutation_p.P322L|LPHN3_ENST00000506720.1_Missense_Mutation_p.P322L|LPHN3_ENST00000514157.1_Missense_Mutation_p.P254L|LPHN3_ENST00000507625.1_Missense_Mutation_p.P322L|LPHN3_ENST00000514591.1_Missense_Mutation_p.P254L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	254	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GATACCTCCCCTTACCGATGG	0.423000													5	74					0	0	1	0	0
AMOTL2	51421	broad.mit.edu	37	3	134079050	134079050	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:134079050C>T	ENST00000514516.1	-	7	2133	c.1955G>A	c.(1954-1956)cGt>cAt	p.R652H	AMOTL2_ENST00000249883.5_Missense_Mutation_p.R594H|AMOTL2_ENST00000513145.1_Missense_Mutation_p.R592H|AMOTL2_ENST00000422605.2_Missense_Mutation_p.R594H	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	594										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						AGTGGTGTCACGCTGAGCAGC	0.602000													6	20					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36870120	36870120	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:36870120T>C	ENST00000279024.4	-	3	684	c.413A>G	c.(412-414)gAg>gGg	p.E138G		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	138										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GTAGGCTGGCTCTGGAACAGG	0.512000													6	330					0	0	1	0	0
FAM217A	222826	broad.mit.edu	37	6	4070052	4070052	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:4070052C>A	ENST00000274673.3	-	7	808	c.405G>T	c.(403-405)aaG>aaT	p.K135N	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN	family with sequence similarity 217, member A	135																	GACCAACTTGCTTATCAACTG	0.393000													15	117					3.32936e-07	3.59931e-07	1	1	0
SLC7A14	57709	broad.mit.edu	37	3	170198185	170198185	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:170198185G>T	ENST00000231706.4	-	7	2201	c.1886C>A	c.(1885-1887)gCc>gAc	p.A629D	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	629						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GAGGCAAGGGGCCATGTAGGG	0.557000													25	506					2.48779e-11	2.7162e-11	1	1	0
MIS18BP1	55320	broad.mit.edu	37	14	45693666	45693666	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:45693666A>T	ENST00000310806.4	-	11	2582	c.2124T>A	c.(2122-2124)agT>agA	p.S708R		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	708					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CCTTGTTTTTACTTTTATGAC	0.348000													4	59					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198265658	198265658	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:198265658T>A	ENST00000335508.5	-	18	2590	c.2499A>T	c.(2497-2499)ttA>ttT	p.L833F		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	833					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TAGTATCAACTAACTAAAAAG	0.328000			Mis		myelodysplastic syndrome								4	45					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18847883	18847883	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:18847883A>T	ENST00000266505.7	-	12	1685	c.1422T>A	c.(1420-1422)agT>agA	p.S474R	PLCZ1_ENST00000538330.1_Missense_Mutation_p.S256R|PLCZ1_ENST00000435379.1_Missense_Mutation_p.S279R|PLCZ1_ENST00000539875.1_Missense_Mutation_p.S281R|PLCZ1_ENST00000534932.1_5'UTR|PLCZ1_ENST00000447925.2_Missense_Mutation_p.S472R|PLCZ1_ENST00000541695.1_Missense_Mutation_p.S337R			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	474	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CTTTTATGTTACTTGGGTTAA	0.289000													4	126					0	0	1	0	0
PITRM1	10531	broad.mit.edu	37	10	3181131	3181131	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:3181131G>T	ENST00000380989.2	-	25	2923	c.2885C>A	c.(2884-2886)tCa>tAa	p.S962*	PITRM1_ENST00000451104.2_Nonsense_Mutation_p.S863*|PITRM1_ENST00000380994.1_Nonsense_Mutation_p.S519*|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000224949.4_Nonsense_Mutation_p.S961*	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	863					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						ATCTACGGTTGAGAAGACAGA	0.463000													35	412					4.65686e-17	5.18739e-17	1	1	0
STRBP	55342	broad.mit.edu	37	9	125936121	125936121	+	Splice_Site	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:125936121C>A	ENST00000447404.2	-	4	529	c.224_splice	c.e4-1	p.K75_splice	STRBP_ENST00000360998.3_Splice_Site_p.K61_splice|STRBP_ENST00000348403.5_Splice_Site_p.K75_splice			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	75					multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						CACCTTGATCCCTAAAAATAA	0.388000													63	52					2.84776e-26	3.22942e-26	1	1	0
OR2L8	391190	broad.mit.edu	37	1	248112339	248112339	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:248112339C>G	ENST00000357191.3	+	1	180	c.180C>G	c.(178-180)ttC>ttG	p.F60L	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCATGTATTTCCTACTGAGTC	0.413000													782	1210					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85731357	85731357	+	Silent	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:85731357C>G	ENST00000322366.6	-	14	2435	c.2028G>C	c.(2026-2028)gtG>gtC	p.V676V	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000295888.4_Silent_p.V676V			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	676						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GATTCTGGTTCACTTTCTCCC	0.438000													47	101					0	0	1	0	0
SDCBP	6386	broad.mit.edu	37	8	59490720	59490720	+	Silent	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:59490720G>T	ENST00000523483.1	+	7	2105	c.591G>T	c.(589-591)gtG>gtT	p.V197V	SDCBP_ENST00000260130.4_Silent_p.V177V|SDCBP_ENST00000447182.2_Silent_p.V176V|SDCBP_ENST00000447267.2_Silent_p.V123V|SDCBP_ENST00000422546.2_Silent_p.V176V|SDCBP_ENST00000424270.2_Silent_p.V171V|SDCBP_ENST00000413219.2_Silent_p.V177V|SDCBP_ENST00000520168.1_Silent_p.V118V			O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	177					actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding	p.V177V(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CGCACAAGGTGCTCAAACAGG	0.418000													5	103					4.68919e-08	5.08188e-08	1	1	0
ZFX	7543	broad.mit.edu	37	X	24225441	24225441	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:24225441A>T	ENST00000379177.1	+	7	1073		c.e7-1		ZFX_ENST00000459724.1_Splice_Site|ZFX_ENST00000304543.5_Splice_Site|ZFX_ENST00000540034.1_Splice_Site|ZFX_ENST00000539115.1_Splice_Site|ZFX_ENST00000338565.3_Intron|ZFX_ENST00000379188.3_Splice_Site	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CTTCCTTTTTAGTGGATGATG	0.338000													5	183					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62299952	62299952	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:62299952G>T	ENST00000378024.4	-	5	2211	c.1937C>A	c.(1936-1938)cCa>cAa	p.P646Q	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	646					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGAACATCTGGACCTTCCCC	0.517000													4	184					0.00024832	0.000261389	1	1	0
OR2T27	403239	broad.mit.edu	37	1	248813490	248813490	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:248813490C>T	ENST00000344889.3	-	1	695	c.696G>A	c.(694-696)gaG>gaA	p.E232E		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCCCCTCCCCTCTGCCTCGC	0.502000													15	51					0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043911	56043911	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:56043911C>A	ENST00000313033.2	+	1	883	c.797C>A	c.(796-798)aCa>aAa	p.T266K		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TATCATGGGACAATCCTCTTC	0.428000													9	665					4.68919e-08	5.08188e-08	1	1	0
ANGPTL1	9068	broad.mit.edu	37	1	178834359	178834359	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:178834359G>T	ENST00000234816.2	-	3	1000	c.553C>A	c.(553-555)Ctt>Att	p.L185I	RALGPS2_ENST00000324778.4_Intron|RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.L185I|RALGPS2_ENST00000367635.3_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	185						extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TTATTGACAAGATCAGTCAAG	0.433000													41	312					6.19805e-25	7.01065e-25	1	1	0
PAK2	5062	broad.mit.edu	37	3	196541320	196541320	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:196541320A>T	ENST00000327134.3	+	11	1257		c.e11-1			NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2						axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		TTGTATTTTTAGTTACCTGGT	0.363000													8	325					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324072	152324072	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:152324072A>T	ENST00000388718.5	-	3	6262	c.6190T>A	c.(6190-6192)Tca>Aca	p.S2064T	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2064							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCATGAACTGAGGATCCTGAC	0.527000													10	2498					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108147577	108147577	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:108147577A>T	ENST00000273353.3	-	28	3580	c.3524T>A	c.(3523-3525)aTa>aAa	p.I1175K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1175						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTTCTTAGTTATTTCCAGCTG	0.493000													5	251					0	0	1	0	0
RWDD4	201965	broad.mit.edu	37	4	184570668	184570668	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:184570668A>T	ENST00000326397.5	-	5	689	c.417T>A	c.(415-417)agT>agA	p.S139R	RWDD4_ENST00000512740.1_Missense_Mutation_p.S76R|RWDD4_ENST00000327570.9_Missense_Mutation_p.S139R|RWDD4_ENST00000510968.1_Missense_Mutation_p.S44R	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN	RWD domain containing 4	139										large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						CTTTTTTCTTACTTGATGGGG	0.328000													5	204					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107329537	107329537	+	Silent	SNP	G	G	A	rs140778437		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:107329537G>A	ENST00000265715.3	+	9	1265	c.1041G>A	c.(1039-1041)tcG>tcA	p.S347S		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	347					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	p.S347S(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GCTTGTTCTCGGAGATGCTGG	0.438000									Pendred syndrome				56	319					0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123848361	123848361	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:123848361G>T	ENST00000531945.1	-	1	127	c.38C>A	c.(37-39)aCa>aAa	p.T13K		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTTCTCCGTTGTCATGGTCAT	0.478000													28	1022					3.8784e-16	4.30934e-16	1	1	0
CTSE	1510	broad.mit.edu	37	1	206325277	206325277	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:206325277A>T	ENST00000361052.3	+	5	635	c.517A>T	c.(517-519)Agt>Tgt	p.S173C	CTSE_ENST00000468617.1_3'UTR|CTSE_ENST00000358184.2_Missense_Mutation_p.S168C|CTSE_ENST00000432969.2_Missense_Mutation_p.S93C|CTSE_ENST00000360218.2_Missense_Mutation_p.S168C			P14091	CATE_HUMAN	cathepsin E	173					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GTTTGGAGAAAGTGTCACAGA	0.547000													54	391					0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88967931	88967931	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:88967931A>T	ENST00000237596.2	+	6	1523	c.1457A>T	c.(1456-1458)tAc>tTc	p.Y486F	PKD2_ENST00000508588.1_Intron	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	486						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TTTATCTTTTACTATGTGGTG	0.383000													6	402					0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150476838	150476838	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:150476838G>A	ENST00000369064.3	+	14	1679	c.1645G>A	c.(1645-1647)Ggc>Agc	p.G549S	TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000606933.1_Missense_Mutation_p.G467S|TARS2_ENST00000369054.2_Missense_Mutation_p.G419S	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	549					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CGATGCCCTGGGCCGGCCACA	0.502000													34	243					0	0	1	0	0
ZNF253	56242	broad.mit.edu	37	19	20002281	20002281	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:20002281A>T	ENST00000589717.1	+	4	318		c.e4-1		ZNF253_ENST00000355650.4_Splice_Site	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253						negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGTTTCTTTTAGTTATGAGTT	0.313000													3	26					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42259304	42259304	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr13:42259304A>T	ENST00000379310.3	-	35	4274	c.4206T>A	c.(4204-4206)taT>taA	p.Y1402*		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		TCTTTCCTCTATAGAATGATG	0.393000													4	198					0	0	1	0	0
SMC5	23137	broad.mit.edu	37	9	72912910	72912910	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:72912910T>A	ENST00000361138.5	+	9	1140	c.1082T>A	c.(1081-1083)gTa>gAa	p.V361E		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	361					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GCTTTAATAGTAAAGCAAAAT	0.363000													6	161					0	0	1	0	0
HIST2H2BA	337875	broad.mit.edu	37	1	120906203	120906203	+	RNA	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:120906203G>A	ENST00000430394.1	+	0	176					NR_027337.1																						CCCGACACCGGCATCTCGTCC	0.612000													11	1363					0	0	1	0	0
ZNF789	285989	broad.mit.edu	37	7	99085048	99085048	+	Silent	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:99085048T>C	ENST00000331410.5	+	5	1485	c.1215T>C	c.(1213-1215)tcT>tcC	p.S405S	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GTGGAAAATCTTTCAAGTGGC	0.403000													4	352					0	0	1	0	0
LST3	0	broad.mit.edu	37	12	21196392	21196392	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:21196392T>A	ENST00000381541.3	+	7	917	c.852T>A	c.(850-852)aaT>aaA	p.N284K	LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.N284K|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.N237K																							TAAATCCAAATAAACCACAGA	0.343000													6	87					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108147573	108147573	+	Silent	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:108147573A>T	ENST00000273353.3	-	28	3584	c.3528T>A	c.(3526-3528)acT>acA	p.T1176T		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1176						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCTGTTTCTTAGTTATTTCCA	0.493000													12	243					0	0	1	0	0
EPYC	1833	broad.mit.edu	37	12	91366748	91366748	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:91366748G>C	ENST00000261172.3	-	4	442	c.350C>G	c.(349-351)aCc>aGc	p.T117S		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	117	LRRNT.				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						CAAAAGACAGGTTGGAAAGTC	0.343000													47	96					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32541877	32541877	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:32541877A>T	ENST00000360538.2	-	3	2762	c.2646T>A	c.(2644-2646)caT>caA	p.H882Q	TOPORS_ENST00000379858.1_Missense_Mutation_p.H817Q	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	882	Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ttttctttttATGGTGTTTAG	0.373000													7	197					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118635189	118635189	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:118635189A>T	ENST00000360388.4	+	8	1203		c.e8-1			NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1						transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GTGTTTTTTTAGTTTTCAGGA	0.473000													9	105					0	0	1	0	0
ZADH2	284273	broad.mit.edu	37	18	72914297	72914297	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr18:72914297T>A	ENST00000322342.3	-	2	499		c.e2-2		ZADH2_ENST00000537114.2_Splice_Site	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2							peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		CCAACAAATCTAAAAGAAAAC	0.428000													8	250					0	0	1	0	0
SLC43A1	8501	broad.mit.edu	37	11	57256464	57256464	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:57256464T>A	ENST00000278426.3	-	13	1691		c.e13-2		SLC43A1_ENST00000528450.1_Splice_Site	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1						cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GGTCACAAACTAAAACCAAAA	0.532000													4	144					0	0	1	0	0
PHGDH	26227	broad.mit.edu	37	1	120277981	120277981	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:120277981G>A	ENST00000369407.3	+	6	2112	c.605G>A	c.(604-606)cGt>cAt	p.R202H	PHGDH_ENST00000369409.4_Missense_Mutation_p.R236H			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	236					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	AACTGTGCCCGTGGAGGGATC	0.617000													6	376					0	0	1	0	0
C16orf71	146562	broad.mit.edu	37	16	4787820	4787820	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:4787820A>C	ENST00000299320.5	+	3	627	c.149A>C	c.(148-150)gAg>gCg	p.E50A	C16orf71_ENST00000590191.1_Missense_Mutation_p.E50A|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	50										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GGGGAAGAGGAGCTGTTCATC	0.597000													22	90					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156932774	156932774	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:156932774G>A	ENST00000257527.4	-	11	1111	c.1033C>T	c.(1033-1035)Cac>Tac	p.H345Y	ADAM19_ENST00000394020.1_Missense_Mutation_p.H347Y|ADAM19_ENST00000430702.2_Missense_Mutation_p.H78Y|ADAM19_ENST00000517905.1_Missense_Mutation_p.H345Y	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	345	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCCATCTCGTGGGCCATGGTG	0.602000													10	60					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31241191	31241191	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chrX:31241191G>T	ENST00000357033.4	-	64	9540	c.9334C>A	c.(9334-9336)Ctc>Atc	p.L3112I	DMD_ENST00000378677.2_Missense_Mutation_p.L3108I|DMD_ENST00000361471.4_Missense_Mutation_p.L44I|DMD_ENST00000474231.1_Missense_Mutation_p.L652I|DMD_ENST00000541735.1_Missense_Mutation_p.L652I|DMD_ENST00000343523.2_Missense_Mutation_p.L652I|DMD_ENST00000359836.1_Missense_Mutation_p.L652I|DMD_ENST00000378680.2_Missense_Mutation_p.L44I|DMD_ENST00000378702.4_Missense_Mutation_p.L44I|DMD_ENST00000378707.3_Missense_Mutation_p.L652I|DMD_ENST00000378723.3_Missense_Mutation_p.L44I	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3112	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGTCTTCGGAGTTTCATGGCA	0.383000													68	87					1.3913e-53	1.68878e-53	1	1	0
TTC17	55761	broad.mit.edu	37	11	43425546	43425546	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:43425546A>T	ENST00000039989.4	+	11	1346		c.e11-1		TTC17_ENST00000299240.6_Splice_Site|TTC17_ENST00000526774.1_Splice_Site	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17								binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTCATTTTCTAGTTTGGTGAG	0.333000													4	87					0	0	1	0	0
TRIM68	55128	broad.mit.edu	37	11	4626621	4626621	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:4626621G>T	ENST00000300747.5	-	2	403	c.114C>A	c.(112-114)agC>agA	p.S38R		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	38					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CAGAGAGACAGCTGTGGCAGA	0.577000													4	226					0.150653	0.151888	1	1	0
RMI1	80010	broad.mit.edu	37	9	86615864	86615864	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr9:86615864A>T	ENST00000325875.3	+	3	296		c.e3-1			NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1						DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TTTTGTTTTCAGGTAATAGAT	0.294000													3	35					0	0	1	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183341	11183341	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:11183341T>A	ENST00000390675.2	-	1	665	c.594A>T	c.(592-594)ttA>ttT	p.L198F	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	198					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						GAGAACAGATTAACAGCAAAA	0.438000													8	557					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108124598	108124598	+	Silent	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:108124598T>C	ENST00000278616.4	+	13	2341	c.1956T>C	c.(1954-1956)ttT>ttC	p.F652F	ATM_ENST00000452508.2_Silent_p.F652F	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	652					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AAGAACTATTTCTTCAGACAA	0.348000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			4	115					0	0	1	0	0
WDTC1	23038	broad.mit.edu	37	1	27621085	27621085	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:27621085G>C	ENST00000319394.3	+	9	1373	c.838G>C	c.(838-840)Ggc>Cgc	p.G280R	WDTC1_ENST00000361771.3_Missense_Mutation_p.G280R	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	280							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CAGCCCCAATGGCACAGAGCT	0.552000													32	59					0	0	1	0	0
AADACL3	126767	broad.mit.edu	37	1	12785730	12785730	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:12785730G>C	ENST00000332530.3	+	3	836	c.610G>C	c.(610-612)Gac>Cac	p.D204H	AADACL3_ENST00000359318.5_Missense_Mutation_p.D274H	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	274							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGCAGAAGATGACATAGTGTC	0.507000													89	309					0	0	1	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59499176	59499176	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr15:59499176A>T	ENST00000307144.4	+	1	135	c.37A>T	c.(37-39)Aga>Tga	p.R13*	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	13					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	GGCCAGCCAGAGAGTGAGCTC	0.587000													7	19					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692925	135692925	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:135692925C>T	ENST00000513104.1	-	2	433	c.151G>A	c.(151-153)Gct>Act	p.A51T	TRPC7_ENST00000355180.3_Missense_Mutation_p.A51T|TRPC7_ENST00000426057.2_Missense_Mutation_p.A51T	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	51					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCATACTCAGCCGAGTCCAGG	0.607000													177	228					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14273947	14273947	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:14273947C>T	ENST00000340736.6	-	6	978	c.681G>A	c.(679-681)aaG>aaA	p.K227K	CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000591528.1_5'UTR|LPHN1_ENST00000361434.3_Silent_p.K222K|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	227	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCGTGCGCTCCTTGTTGTAGA	0.607000													3	147					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109378555	109378555	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:109378555A>T	ENST00000283195.6	+	19	2728		c.e19-1			NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTGTTTTTTTAGTTGCAACTA	0.333000													5	75					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27008349	27008349	+	Silent	SNP	C	C	T	rs62066801		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:27008349C>T	ENST00000314616.6	+	12	1708	c.1425C>T	c.(1423-1425)atC>atT	p.I475I	SUPT6H_ENST00000347486.4_Silent_p.I475I	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	475					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GCCGAGACATCCCTAAGATGC	0.448000													4	331					0	0	1	0	0
CD34	947	broad.mit.edu	37	1	208062058	208062058	+	Missense_Mutation	SNP	C	C	T	rs146542924		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:208062058C>T	ENST00000356522.4	-	7	1262	c.941G>A	c.(940-942)cGc>cAc	p.R314H	CD34_ENST00000367036.3_Missense_Mutation_p.R156H|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000310833.7_Missense_Mutation_p.R314H|CD34_ENST00000537704.1_Missense_Mutation_p.R179H	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	314					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CCAGCTGCGGCGATTCATCAG	0.562000													11	1204					0	0	1	0	0
NDP	4693	broad.mit.edu	37	X	43809108	43809108	+	Silent	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chrX:43809108G>T	ENST00000378062.5	-	3	746	c.339C>A	c.(337-339)ggC>ggA	p.G113G	NDP_ENST00000470584.1_5'UTR|NDP-AS1_ENST00000435093.1_RNA	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)	113	CTCK.				canonical Wnt receptor signaling pathway|cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception	extracellular matrix|extracellular space	cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity			kidney(1)|lung(2)	3						TGAGTCGCATGCCCCCTGAGC	0.602000											OREG0019744	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	33					1.024e-07	1.14156e-07	1	1	0
CCDC18	343099	broad.mit.edu	37	1	93649533	93649533	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:93649533A>T	ENST00000343253.7	+	3	636		c.e3-1		CCDC18_ENST00000334652.5_Splice_Site|CCDC18_ENST00000557479.1_Splice_Site|CCDC18_ENST00000338949.4_Splice_Site|CCDC18_ENST00000401026.3_Splice_Site			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18											breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TTTTTTCTCTAGTGTTAGTCC	0.328000													7	118					0	0	1	0	0
PRDM4	11108	broad.mit.edu	37	12	108127989	108127989	+	Nonstop_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:108127989A>T	ENST00000228437.5	-	12	2863	c.2404T>A	c.(2404-2406)Taa>Aaa	p.*802K		NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	0					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TTTTCCTTTTATTTATGTGCA	0.358000													10	192					0	0	1	0	0
NVL	4931	broad.mit.edu	37	1	224463162	224463162	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:224463162T>A	ENST00000281701.6	-	17	2222		c.e17-2		NVL_ENST00000482491.1_Splice_Site|NVL_ENST00000340871.4_Splice_Site|NVL_ENST00000361463.3_Splice_Site|NVL_ENST00000469075.1_Splice_Site|NVL_ENST00000391875.2_Splice_Site	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like							aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		ACCAACATACTAAACATACAC	0.368000													11	442					0	0	1	0	0
POLK	51426	broad.mit.edu	37	5	74889874	74889874	+	Splice_Site	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:74889874G>A	ENST00000241436.4	+	12	1700	c.1528_splice	c.e12+1	p.G510_splice	POLK_ENST00000504026.1_Intron|POLK_ENST00000508526.1_Intron|POLK_ENST00000380481.3_Splice_Site_p.G420_splice|POLK_ENST00000352007.5_Intron|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	510					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AAGGCTTATGGGTATGACTTT	0.353000								DNA polymerases (catalytic subunits)					116	57					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284263	152284263	+	Silent	SNP	G	G	A	rs146128865	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:152284263G>A	ENST00000368799.1	-	3	3134	c.3099C>T	c.(3097-3099)caC>caT	p.H1033H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1033	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCGGGATCCGTGTCTTTCTC	0.567000									Ichthyosis				5	795					0	0	1	0	0
SEPT12	124404	broad.mit.edu	37	16	4834040	4834040	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:4834040T>C	ENST00000268231.8	-	5	667	c.404A>G	c.(403-405)gAg>gGg	p.E135G	SEPT12_ENST00000396693.5_Intron	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	135					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CTCGTATTGCTCGTTGATGTA	0.622000													4	426					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152314353	152314353	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:152314353C>G	ENST00000243326.4	+	23	3214	c.2731C>G	c.(2731-2733)Caa>Gaa	p.Q911E	RIF1_ENST00000444746.2_Missense_Mutation_p.Q911E|RIF1_ENST00000428287.2_Missense_Mutation_p.Q911E|RIF1_ENST00000453091.2_Missense_Mutation_p.Q911E|RIF1_ENST00000430328.2_Missense_Mutation_p.Q911E			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	911					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ACTTCTTGAACAACTCTCCCC	0.363000													8	87					0	0	1	0	0
CCDC181	57821	broad.mit.edu	37	1	169390632	169390632	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:169390632A>T	ENST00000545005.1	-	4	1544	c.1037T>A	c.(1036-1038)cTa>cAa	p.L346Q	CCDC181_ENST00000367806.3_Missense_Mutation_p.L346Q|CCDC181_ENST00000367805.3_Missense_Mutation_p.L346Q|CCDC181_ENST00000491570.1_5'UTR					coiled-coil domain containing 181																		CTTTTCTTCTAGTTGTTTTTG	0.368000													8	169					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72831569	72831569	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:72831569G>A	ENST00000268489.5	-	9	5684	c.5012C>T	c.(5011-5013)gCt>gTt	p.A1671V	ZFHX3_ENST00000397992.5_Missense_Mutation_p.A757V	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1671					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGCAATGCCAGCACTGCTTGG	0.542000													5	455					0	0	1	0	0
AP1S3	130340	broad.mit.edu	37	2	224640714	224640714	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:224640714T>A	ENST00000443700.1	-	3	346	c.195A>T	c.(193-195)ttA>ttT	p.L65F	AP1S3_ENST00000423110.1_Missense_Mutation_p.L65F|AP1S3_ENST00000396653.2_Intron|AP1S3_ENST00000396654.2_Missense_Mutation_p.L65F|AP1S3_ENST00000446015.2_Missense_Mutation_p.L65F|AP1S3_ENST00000409375.1_Missense_Mutation_p.L65F			Q96PC3	AP1S3_HUMAN	adaptor-related protein complex 1, sigma 3 subunit	65					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane coat	protein transporter activity			NS(1)|breast(1)|lung(2)	4		Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272)		Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902)		AGCAAAAATATAAACTAGCAT	0.368000													5	113					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62168046	62168046	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr15:62168046T>A	ENST00000261517.5	-	76	10298		c.e76-2		VPS13C_ENST00000249837.3_Splice_Site|VPS13C_ENST00000558919.1_Splice_Site|VPS13C_ENST00000395898.3_Splice_Site|VPS13C_ENST00000395896.4_Splice_Site	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)						protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTTCAAGAACTAAAAAAGAAA	0.289000													4	32					0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9583639	9583639	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:9583639A>T	ENST00000570827.2	+	6	1202	c.128A>T	c.(127-129)tAt>tTt	p.Y43F	USP43_ENST00000285199.6_Missense_Mutation_p.Y354F|USP43_ENST00000570475.1_Missense_Mutation_p.Y354F|USP43_ENST00000575346.1_3'UTR			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	354					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GATAATGTGTATGCCTTTCAA	0.453000													4	154					0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56642010	56642010	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:56642010T>A	ENST00000267116.7	-	18	1898		c.e18-2			NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52								protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GTTGTAGGCCTGGCAAGGTGC	0.612000													4	409					0	0	1	0	0
HIST2H2BF	440689	broad.mit.edu	37	1	149783718	149783718	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:149783718C>T	ENST00000427880.2	-	1	207	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.G54D|HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.G54D			Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	54					nucleosome assembly	nucleosome|nucleus	DNA binding	p.G54D(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					GGACGAGATGCCGGTGTCGGG	0.597000													12	1028					0	0	1	0	0
PDLIM4	8572	broad.mit.edu	37	5	131598428	131598428	+	Missense_Mutation	SNP	G	G	T	rs138635559		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:131598428G>T	ENST00000253754.3	+	2	284	c.220G>T	c.(220-222)Gat>Tat	p.D74Y	P4HA2_ENST00000471826.1_Intron|PDLIM4_ENST00000379018.3_Missense_Mutation_p.D74Y	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	74	PDZ.						protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGCTGCCACGATCACCTCAC	0.597000													23	76					4.43304e-23	5.14399e-23	1	1	0
TNRC6B	23112	broad.mit.edu	37	22	40662685	40662685	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr22:40662685T>A	ENST00000454349.2	+	5	2662	c.2451T>A	c.(2449-2451)aaT>aaA	p.N817K	TNRC6B_ENST00000335727.8_Missense_Mutation_p.N817K|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	817					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						ATTCCTGGAATAAACAACACC	0.592000													5	220					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113374871	113374871	+	Silent	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:113374871A>T	ENST00000316407.4	-	7	6068	c.5658T>A	c.(5656-5658)atT>atA	p.I1886I	KIAA2018_ENST00000478658.1_Silent_p.I1886I|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1886					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TCCTGGTGTTAATTGCACCTA	0.393000													5	132					0	0	1	0	0
MGEA5	10724	broad.mit.edu	37	10	103559214	103559214	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr10:103559214T>A	ENST00000361464.3	-	9	1591		c.e9-2		MGEA5_ENST00000370094.3_Splice_Site|MGEA5_ENST00000357797.5_Splice_Site|MGEA5_ENST00000439817.1_Splice_Site	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)						glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CTTGCCTACCTACAAAAATAA	0.348000													5	97					0	0	1	0	0
OR4D1	26689	broad.mit.edu	37	17	56232618	56232618	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:56232618A>T	ENST00000268912.5	+	1	125	c.104A>T	c.(103-105)tAt>tTt	p.Y35F		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						CTGTTAGTCTATGTTACCACC	0.463000													5	420					0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6457292	6457292	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:6457292C>T	ENST00000358945.3	-	13	2263	c.1823G>A	c.(1822-1824)cGa>cAa	p.R608Q	SCNN1A_ENST00000543768.1_Missense_Mutation_p.R609Q|SCNN1A_ENST00000360168.3_Missense_Mutation_p.R645Q|SCNN1A_ENST00000540037.1_Missense_Mutation_p.R286Q|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000228916.2_Missense_Mutation_p.R586Q			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	586					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	TCGGAACCTTCGGAGCAGCAT	0.622000													6	65					0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36383156	36383156	+	Splice_Site	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr13:36383156C>A	ENST00000255448.4	-	13	1976	c.1766_splice	c.e13+1	p.G589_splice	DCLK1_ENST00000360631.3_Splice_Site_p.G589_splice|DCLK1_ENST00000379893.1_Splice_Site_p.G282_splice	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	589	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TGCCCATACCCACGGAATGGA	0.478000													5	251					0.00198382	0.00207374	1	1	0
KAT6B	23522	broad.mit.edu	37	10	76748798	76748798	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr10:76748798T>A	ENST00000287239.4	+	13	3046	c.2557T>A	c.(2557-2559)Tat>Aat	p.Y853N	KAT6B_ENST00000372714.1_Missense_Mutation_p.Y561N|KAT6B_ENST00000372724.1_Missense_Mutation_p.Y561N|KAT6B_ENST00000372725.1_Missense_Mutation_p.Y561N|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372711.1_Missense_Mutation_p.Y670N	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	853	Catalytic.|Interaction with BRPF1.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CCAGCAGAAGTATAATGTCTC	0.448000													42	197					0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47099251	47099251	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chrX:47099251G>A	ENST00000377107.2	+	4	834	c.480G>A	c.(478-480)cgG>cgA	p.R160R	USP11_ENST00000218348.3_Silent_p.R203R			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	203	DUSP.			A -> R (in Ref. 3; BAC20463).	protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TGCTTGTCCGGCACAATGATT	0.498000													5	590					0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248813490	248813490	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:248813490C>T	ENST00000344889.3	-	1	695	c.696G>A	c.(694-696)gaG>gaA	p.E232E		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCCCCTCCCCTCTGCCTCGC	0.502000													15	51					0	0	1	0	0
GLCCI1	113263	broad.mit.edu	37	7	8126006	8126006	+	Silent	SNP	T	T	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:8126006T>G	ENST00000223145.5	+	8	2039	c.1482T>G	c.(1480-1482)gtT>gtG	p.V494V		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	494										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CTCTGACCGTTGAGCAGCTCT	0.557000													176	570					0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49847308	49847308	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:49847308G>T	ENST00000333486.3	-	15	2002	c.1844C>A	c.(1843-1845)gCc>gAc	p.A615D		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	615					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTCATGCCGGGCCCACTGTGG	0.587000													71	32					6.5469e-37	7.76786e-37	1	1	0
SLC30A9	10463	broad.mit.edu	37	4	42022431	42022431	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr4:42022431A>T	ENST00000264451.6	+	4	514		c.e4-1			NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9						nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTTTTTGTTTAGTTAAAGCAG	0.348000													5	74					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144857634	144857634	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:144857634C>T	ENST00000369359.4	-	42	6866	c.6828G>A	c.(6826-6828)acG>acA	p.T2276T	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Silent_p.T2225T|PDE4DIP_ENST00000369354.3_Silent_p.T2140T|PDE4DIP_ENST00000313382.9_Silent_p.T2034T|PDE4DIP_ENST00000369356.4_Silent_p.T2140T			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2140					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGATTATGGGCGTTTCTGAGC	0.483000			T	PDGFRB	MPD								111	641					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179600277	179600277	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:179600277C>T	ENST00000589042.1	-	50	15120	c.14896G>A	c.(14896-14898)Gct>Act	p.A4966T	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A3722T|TTN_ENST00000591111.1_Missense_Mutation_p.A4649T|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4649	Ig-like 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCTTCCAGCCTCATTTGAA	0.408000													31	32					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74973489	74973489	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr14:74973489G>A	ENST00000261978.4	-	27	4331	c.3945C>T	c.(3943-3945)agC>agT	p.S1315S	LTBP2_ENST00000556690.1_Silent_p.S1271S	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1315	Cys-rich.|EGF-like 15; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGAAGCCGTGGCTGCCACACA	0.597000													16	35					0	0	1	0	0
PLTP	5360	broad.mit.edu	37	20	44531163	44531163	+	Silent	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr20:44531163G>T	ENST00000477313.1	-	10	1617	c.1023C>A	c.(1021-1023)ggC>ggA	p.G341G	PLTP_ENST00000354050.4_Silent_p.G289G|PLTP_ENST00000542937.1_Silent_p.G361G|PLTP_ENST00000372431.3_Silent_p.G341G|PLTP_ENST00000372420.1_Silent_p.G253G|PLTP_ENST00000420868.2_Silent_p.G246G			P55058	PLTP_HUMAN	phospholipid transfer protein	341					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				AGATGGTGGTGCCAGAGGGCT	0.627000													49	140					1.62263e-30	1.91907e-30	1	1	0
MAP1B	4131	broad.mit.edu	37	5	71495925	71495925	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:71495925C>T	ENST00000296755.7	+	5	7041	c.6743C>T	c.(6742-6744)cCa>cTa	p.P2248L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2248						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACCAAAAAGCCAGGTACAAAG	0.488000													5	692					0	0	1	0	0
GULP1	51454	broad.mit.edu	37	2	189458666	189458666	+	Splice_Site	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:189458666G>A	ENST00000409580.1	+	13	1557		c.e13-1		GULP1_ENST00000409805.1_Splice_Site|GULP1_ENST00000409830.1_Splice_Site|GULP1_ENST00000409843.1_Splice_Site|GULP1_ENST00000409609.1_Splice_Site|GULP1_ENST00000359135.3_Splice_Site			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1						apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			CTGTTTTACAGGAGGGGTTCA	0.338000													17	62					0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31484438	31484438	+	Silent	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:31484438T>C	ENST00000322054.5	+	5	1224	c.939T>C	c.(937-939)tcT>tcC	p.S313S	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	313					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TCATCAGCTCTCTGAAGAAGG	0.562000													115	580					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48690437	48690437	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr8:48690437T>A	ENST00000314191.2	-	85	11907		c.e85-2		PRKDC_ENST00000523565.1_Splice_Site|PRKDC_ENST00000338368.3_Splice_Site	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide						cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGGCAGAAACTAAACAAGAAA	0.423000								Non-homologous end-joining					5	45					0	0	1	0	0
FAM180A	389558	broad.mit.edu	37	7	135419056	135419056	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:135419056G>A	ENST00000338588.3	-	3	454	c.189C>T	c.(187-189)gcC>gcT	p.A63A	FAM180A_ENST00000415751.1_Silent_p.A63A	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	63						extracellular region				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						TCTCAAGTTCGGCCAGCAGGA	0.532000													5	477					0	0	1	0	0
GOLIM4	27333	broad.mit.edu	37	3	167750471	167750471	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:167750471T>G	ENST00000470487.1	-	9	1702	c.1013A>C	c.(1012-1014)gAg>gCg	p.E338A	GOLIM4_ENST00000309027.4_Missense_Mutation_p.E310A	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	338	Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTTTCTGTGCTCCTCTTCCAC	0.552000													219	95					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104098121	104098121	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr4:104098121A>T	ENST00000265148.3	-	14	1414	c.1325T>A	c.(1324-1326)aTa>aAa	p.I442K	CENPE_ENST00000380026.3_Missense_Mutation_p.I442K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	442					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATTTGTTGGTATATTAAATTG	0.284000													3	22					0	0	1	0	0
CPOX	1371	broad.mit.edu	37	3	98307628	98307628	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:98307628G>A	ENST00000264193.2	-	4	1100	c.882C>T	c.(880-882)gtC>gtT	p.V294V		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	294			V -> I (in dbSNP:rs2228056).			mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TGTGAAAATGGACAGCGTCTT	0.433000													7	57					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7786826	7786826	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr10:7786826A>T	ENST00000358415.4	+	19	2647	c.2481A>T	c.(2479-2481)ttA>ttT	p.L827F	ITIH2_ENST00000379587.4_Missense_Mutation_p.L816F	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	827					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTTCTGTTTTACTTCATCGTG	0.418000													4	112					0	0	1	0	0
CPB2	1361	broad.mit.edu	37	13	46632338	46632338	+	Missense_Mutation	SNP	A	A	T	rs150895932		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr13:46632338A>T	ENST00000181383.4	-	9	991	c.975T>A	c.(973-975)agT>agA	p.S325R	CPB2_ENST00000439329.3_Missense_Mutation_p.S288R|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	325		Cleavage; by thrombin.			blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CTTTGCTTTTACTTCGTGTAT	0.328000													9	321					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53644453	53644453	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:53644453C>A	ENST00000452676.2	-	5	2057	c.1631G>T	c.(1630-1632)tGt>tTt	p.C544F	ZNF347_ENST00000601469.2_Missense_Mutation_p.C544F|ZNF347_ENST00000334197.7_Missense_Mutation_p.C543F|ZNF347_ENST00000601804.1_Intron	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GCACTCATTACACATATAAGG	0.398000													145	253					3.29649e-51	3.97518e-51	1	1	0
AJUBA	84962	broad.mit.edu	37	14	23445729	23445729	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr14:23445729T>A	ENST00000262713.2	-	4	1552		c.e4-2		AJUBA_ENST00000361265.4_Splice_Site|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000397388.3_Splice_Site	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein						cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										CCCTGAAAACTAAAGTAAAAG	0.453000													9	321					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111580247	111580247	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:111580247G>A	ENST00000428084.1	-	11	1167	c.895C>T	c.(895-897)Cga>Tga	p.R299*	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Nonsense_Mutation_p.R299*			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	299					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CCAAAGGGTCGTCGGTACTGG	0.443000													6	774					0	0	1	0	0
DPEP2	64174	broad.mit.edu	37	16	68021768	68021768	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:68021768C>A	ENST00000412757.2	-	11	1858	c.1193G>T	c.(1192-1194)aGa>aTa	p.R398I	DPEP2_ENST00000572888.1_Missense_Mutation_p.R398I|DPEP2_ENST00000393847.1_Missense_Mutation_p.R398I			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	398					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TTCCACTTGTCTGAAGACCCG	0.567000													18	747					5.35267e-07	5.93133e-07	1	1	0
UQCRFS1	7386	broad.mit.edu	37	19	29698751	29698751	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:29698751G>A	ENST00000304863.4	-	2	951	c.529C>T	c.(529-531)Cgt>Tgt	p.R177C		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	177					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			GTTCTATGACGCACAAACAGG	0.453000													5	424					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784785	9784785	+	Missense_Mutation	SNP	T	T	G	rs138371884	by1000genomes	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr4:9784785T>G	ENST00000304374.2	+	1	1528	c.1132T>G	c.(1132-1134)Ttc>Gtc	p.F378V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	378					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.F378V(4)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GTGCAGCCACTTCTGCTCCCG	0.562000													3	81					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144780343	144780343	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr6:144780343A>G	ENST00000367545.3	+	20	2560	c.2560A>G	c.(2560-2562)Aaa>Gaa	p.K854E		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	854	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCTTCACCCCAAAATTGAAAT	0.502000													18	35					0	0	1	0	0
CCDC112	153733	broad.mit.edu	37	5	114607212	114607212	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:114607212G>T	ENST00000379611.5	-	7	1317	c.1030C>A	c.(1030-1032)Caa>Aaa	p.Q344K	CCDC112_ENST00000512261.1_Missense_Mutation_p.Q261K|CCDC112_ENST00000506442.1_Missense_Mutation_p.Q261K|CCDC112_ENST00000395557.4_Missense_Mutation_p.Q261K	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	261										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		ttttgcttttgattatcctct	0.338000													4	76					2.56e-06	2.81982e-06	1	1	0
TCF12	6938	broad.mit.edu	37	15	57355946	57355946	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr15:57355946A>T	ENST00000267811.5	+	4	452		c.e4-1		TCF12_ENST00000333725.5_Splice_Site|TCF12_ENST00000557843.1_Splice_Site|TCF12_ENST00000438423.2_Splice_Site|TCF12_ENST00000452095.2_Intron	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12						immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TTCTCTTTTTAGGTATTGATG	0.363000			T	TEC	extraskeletal myxoid chondrosarcoma								7	167					0	0	1	0	0
STARD7	56910	broad.mit.edu	37	2	96861119	96861119	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:96861119C>T	ENST00000337288.5	-	2	842	c.459G>A	c.(457-459)tgG>tgA	p.W153*	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	153	START.					mitochondrion				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						TTGGGCGCCGCCACAGCTTAA	0.498000													4	24					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179398587	179398587	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:179398587C>T	ENST00000589042.1	-	358	102979	c.102755G>A	c.(102754-102756)aGa>aAa	p.R34252K	TTN_ENST00000342175.6_Missense_Mutation_p.R25379K|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R25312K|TTN_ENST00000342992.6_Missense_Mutation_p.R31684K|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R32611K|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R25187K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589434.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32611							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCAGGAGTCTCATTGTGTC	0.413000													8	146					0	0	1	0	0
CCDC181	57821	broad.mit.edu	37	1	169391451	169391451	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:169391451T>C	ENST00000545005.1	-	4	725	c.218A>G	c.(217-219)cAg>cGg	p.Q73R	CCDC181_ENST00000367806.3_Missense_Mutation_p.Q73R|CCDC181_ENST00000367805.3_Missense_Mutation_p.Q73R|CCDC181_ENST00000491570.1_5'UTR					coiled-coil domain containing 181																		GACCTCATCCTGCAAAGATTT	0.398000													3	214					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91818686	91818686	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:91818686A>G	ENST00000370425.3	-	15	1851	c.1753T>C	c.(1753-1755)Tat>Cat	p.Y585H	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.Y264H	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	585	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GCATGATGATAAGCAGCACCA	0.328000													12	40					0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49657184	49657184	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:49657184C>T	ENST00000252825.4	-	1	1497	c.1311G>A	c.(1309-1311)caG>caA	p.Q437Q	HRC_ENST00000595625.1_Silent_p.Q437Q	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	437					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GGCTGGGGGCCTGGTGGCCAA	0.552000													5	211					0	0	1	0	0
TMPRSS12	283471	broad.mit.edu	37	12	51281283	51281283	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:51281283T>A	ENST00000398458.3	+	5	1066	c.1034T>A	c.(1033-1035)cTa>cAa	p.L345Q	TMPRSS12_ENST00000551456.1_3'UTR	NM_182559.2	NP_872365.1	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	345					proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						GTCATCTTACTAGCAACAACA	0.338000													5	145					0	0	1	0	0
CABYR	26256	broad.mit.edu	37	18	21739723	21739723	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr18:21739723C>A	ENST00000399496.3	+	5	994	c.829C>A	c.(829-831)Cct>Act	p.P277T	CABYR_ENST00000581397.1_Missense_Mutation_p.P277T|CABYR_ENST00000327201.6_Missense_Mutation_p.P179T|CABYR_ENST00000415309.2_Intron|CABYR_ENST00000399499.1_Missense_Mutation_p.P277T|RP11-799B12.4_ENST00000583267.1_lincRNA	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	0					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					GAAACCTCTTCCTGGACATGC	0.458000													32	484					0.000279167	0.000297724	1	1	0
ACSS2	55902	broad.mit.edu	37	20	33513922	33513922	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr20:33513922A>G	ENST00000360596.2	+	16	1952	c.1741A>G	c.(1741-1743)Aca>Gca	p.T581A	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Missense_Mutation_p.T594A|ACSS2_ENST00000336325.4_Missense_Mutation_p.T531A	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	581					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCTGCTGAGTACAGCAGAGGT	0.577000													4	613					0	0	1	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44218220	44218220	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr6:44218220G>A	ENST00000371554.1	+	6	1055	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.E281K|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.E281K			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	281					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGATCAGGAAGAACTAAACAA	0.423000													52	103					0	0	1	0	0
SMC3	9126	broad.mit.edu	37	10	112335137	112335137	+	Silent	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr10:112335137A>G	ENST00000361804.4	+	4	300	c.174A>G	c.(172-174)ccA>ccG	p.P58P	SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	58					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		ATCTTCGTCCAGAACAGCGGT	0.299000													8	14					0	0	1	0	0
STAT2	6773	broad.mit.edu	37	12	56742758	56742758	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:56742758C>T	ENST00000314128.4	-	17	1549	c.1526G>A	c.(1525-1527)gGc>gAc	p.G509D	STAT2_ENST00000557235.1_Missense_Mutation_p.G505D|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	509					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GAGGCCTCGGCCAACATAGGA	0.562000													5	369					0	0	1	0	0
IPO11	51194	broad.mit.edu	37	5	61846192	61846192	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:61846192A>T	ENST00000325324.6	+	25	2419		c.e25-1		IPO11_ENST00000409296.3_Splice_Site	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11							cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TCTGGTTTTTAGGTTGTGGAA	0.348000													4	69					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	48019414	48019414	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:48019414G>A	ENST00000426837.2	-	4	371	c.284C>T	c.(283-285)tCt>tTt	p.S95F	MAP4_ENST00000360240.6_Missense_Mutation_p.S78F|MAP4_ENST00000434267.1_Missense_Mutation_p.S78F|MAP4_ENST00000383737.4_Missense_Mutation_p.S78F|MAP4_ENST00000395734.3_Missense_Mutation_p.S78F|MAP4_ENST00000439356.1_Missense_Mutation_p.S78F			P27816	MAP4_HUMAN	microtubule-associated protein 4	78					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TGGTTTAGAAGATGGAGTATC	0.408000													102	125					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6220099	6220099	+	Missense_Mutation	SNP	C	C	T	rs140044866	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:6220099C>T	ENST00000261405.5	-	4	510	c.256G>A	c.(256-258)Gtg>Atg	p.V86M	VWF_ENST00000572068.1_Missense_Mutation_p.V123M	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	86	VWFD 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCAAGATACACGGAGAGGCTC	0.408000													4	398					0	0	1	0	0
WIPI2	26100	broad.mit.edu	37	7	5270558	5270558	+	Missense_Mutation	SNP	A	A	G	rs144773383	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:5270558A>G	ENST00000288828.4	+	13	1577	c.1345A>G	c.(1345-1347)Atg>Gtg	p.M449V	WIPI2_ENST00000484262.1_Missense_Mutation_p.M379V|WIPI2_ENST00000404704.3_Missense_Mutation_p.M438V|WIPI2_ENST00000401525.3_Missense_Mutation_p.M431V|WIPI2_ENST00000382384.2_Missense_Mutation_p.M420V	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	449					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GCACCCGCCCATGATTCTTCG	0.597000													35	82					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18435372	18435372	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:18435372T>A	ENST00000433979.1	+	2	473	c.357T>A	c.(355-357)aaT>aaA	p.N119K	PIK3C2G_ENST00000535651.1_Missense_Mutation_p.N119K|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.N119K|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.N119K|RERGL_ENST00000541632.1_Intron	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	119					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AACCTCAAAATACGAATAAAG	0.403000													5	178					0	0	1	0	0
SEPT12	124404	broad.mit.edu	37	16	4833698	4833698	+	Silent	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:4833698G>T	ENST00000268231.8	-	6	845	c.582C>A	c.(580-582)gcC>gcA	p.A194A	SEPT12_ENST00000396693.5_Silent_p.A148A	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	194					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						TGTCGGCCCTGGCAATCACGG	0.687000													6	119					0.00621372	0.00644062	1	1	0
ZNF781	163115	broad.mit.edu	37	19	38160704	38160704	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:38160704G>A	ENST00000358582.4	-	4	1094	c.346C>T	c.(346-348)Cct>Tct	p.P116S	ZNF781_ENST00000590008.1_Missense_Mutation_p.P116S|ZFP30_ENST00000586732.1_Intron	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						CATTTATAAGGTTTCTCACCA	0.378000													25	342					0	0	1	0	0
RGPD8	727851	broad.mit.edu	37	2	113147073	113147073	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:113147073A>T	ENST00000302558.3	-	20	3640	c.3449T>A	c.(3448-3450)tTt>tAt	p.F1150Y	RGPD8_ENST00000409750.1_Missense_Mutation_p.F1010Y	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8											endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						TGGTGTTTTAAATTTTGCTGC	0.453000													5	161					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198265662	198265662	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:198265662T>A	ENST00000335508.5	-	18	2588		c.e18-2			NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATCAACTAACTAAAAAGAACA	0.338000			Mis		myelodysplastic syndrome								6	42					0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27250942	27250942	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:27250942T>C	ENST00000577226.1	-	4	1046	c.700A>G	c.(700-702)Acc>Gcc	p.T234A	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000332830.4_Missense_Mutation_p.T234A|PHF12_ENST00000268756.3_Missense_Mutation_p.T234A			Q96QT6	PHF12_HUMAN	PHD finger protein 12	234	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			AGTGCAGTGGTACAAGTCAGT	0.562000													32	39					0	0	1	0	0
TNK1	8711	broad.mit.edu	37	17	7291835	7291835	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:7291835G>T	ENST00000570896.1	+	12	2034	c.1588G>T	c.(1588-1590)Ggc>Tgc	p.G530C	TNK1_ENST00000576812.1_Missense_Mutation_p.G535C|TNK1_ENST00000311668.2_Missense_Mutation_p.G530C			Q13470	TNK1_HUMAN	tyrosine kinase, non-receptor, 1	535	Pro-rich.				protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				GGGACCTCCAGGCCTGCCTCC	0.612000													25	33					3.7963e-18	4.39134e-18	1	1	0
GPR65	8477	broad.mit.edu	37	14	88477819	88477819	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr14:88477819G>A	ENST00000267549.3	+	2	1186	c.628G>A	c.(628-630)Gtg>Atg	p.V210M	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	210					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CTACCAAGCTGTGCGGCACAA	0.423000													15	109					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36766970	36766970	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr8:36766970G>A	ENST00000399881.3	+	21	2285	c.2248G>A	c.(2248-2250)Gac>Aac	p.D750N		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	750						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GGAGCTGAAGGACATAGTGTT	0.463000													41	494					0	0	1	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947012	57947012	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:57947012A>T	ENST00000335397.3	+	3	412	c.96A>T	c.(94-96)ttA>ttT	p.L32F		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TCTTGTTTTTATTTATGTATC	0.448000													11	431					0	0	1	0	0
FGF6	2251	broad.mit.edu	37	12	4543521	4543521	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:4543521G>T	ENST00000228837.2	-	3	530	c.487C>A	c.(487-489)Ctc>Atc	p.L163I		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	163					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TTGGGCAGGAGGGTTTCTCTG	0.522000													4	485					1.23904e-05	1.35268e-05	1	1	0
FLG2	388698	broad.mit.edu	37	1	152324633	152324633	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:152324633T>C	ENST00000388718.5	-	3	5701	c.5629A>G	c.(5629-5631)Aga>Gga	p.R1877G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1877							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCAGATCTCCTTCTTCCA	0.507000													8	1219					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155346	22155346	+	Silent	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:22155346T>C	ENST00000397126.4	-	4	2638	c.2490A>G	c.(2488-2490)gaA>gaG	p.E830E	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTAGGGCTTTTCTCCAGCAT	0.373000													3	97					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95497757	95497757	+	RNA	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:95497757C>G	ENST00000432432.2	-	0	1086					NR_040113.1																						CTCACCTTCTCCTTGTCCATT	0.473000													159	197					0	0	1	0	0
MRPL1	65008	broad.mit.edu	37	4	78873727	78873727	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr4:78873727T>A	ENST00000315567.8	+	9	1273	c.944T>A	c.(943-945)gTa>gAa	p.V315E		NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	315							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						CCTAAAGAAGTAAAAAATGAA	0.348000													4	57					0	0	1	0	0
PIGZ	80235	broad.mit.edu	37	3	196678778	196678778	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:196678778C>A	ENST00000412723.1	-	2	271	c.125G>T	c.(124-126)aGc>aTc	p.S42I	PIGZ_ENST00000443835.1_Missense_Mutation_p.S42I	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	42					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		TCGGAGCAGGCTGAGACCACC	0.567000													3	79					0.004672	0.00485625	1	1	0
TCHHL1	126637	broad.mit.edu	37	1	152059571	152059571	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:152059571A>T	ENST00000368806.1	-	3	651	c.587T>A	c.(586-588)aTa>aAa	p.I196K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	196							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGTTGTTTGTATATCTTGAGC	0.433000													5	283					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26774093	26774093	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:26774093C>T	ENST00000381340.3	-	26	3841	c.3425G>A	c.(3424-3426)gGg>gAg	p.G1142E		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1142					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TTGACTTTCCCCTATTTCTCC	0.408000													6	842					0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869587	22869587	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr22:22869587G>T	ENST00000302097.3	-	2	620	c.368C>A	c.(367-369)cCt>cAt	p.P123H		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTTATAACCAGGTTCAGATGA	0.483000													5	276					0.184627	0.185129	1	1	0
UNC45B	146862	broad.mit.edu	37	17	33495211	33495211	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:33495211C>T	ENST00000268876.5	+	10	1380	c.1283C>T	c.(1282-1284)gCa>gTa	p.A428V	UNC45B_ENST00000378449.1_Missense_Mutation_p.A428V|UNC45B_ENST00000591048.1_Missense_Mutation_p.A428V|UNC45B_ENST00000433649.1_Missense_Mutation_p.A428V|UNC45B_ENST00000394570.2_Missense_Mutation_p.A428V	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	428					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				ATGATGGTGGCACTATGTGGC	0.592000													29	109					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30953424	30953424	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:30953424C>A	ENST00000597505.1	-	20	2790	c.2791G>T	c.(2791-2793)Gag>Tag	p.E931*	DCDC1_ENST00000437348.1_5'UTR|DCDC1_ENST00000339794.5_Nonsense_Mutation_p.E10*|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	279					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCATATGGCTCTGTTGTCTTA	0.443000													59	30					1.1362e-29	1.33948e-29	1	1	0
GON4L	54856	broad.mit.edu	37	1	155735152	155735152	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:155735152A>T	ENST00000437809.1	-	21	4234	c.4112T>A	c.(4111-4113)gTa>gAa	p.V1371E	GON4L_ENST00000368331.1_Missense_Mutation_p.V1371E|GON4L_ENST00000361040.5_Missense_Mutation_p.V1371E|GON4L_ENST00000271883.5_Missense_Mutation_p.V1371E|GON4L_ENST00000471341.1_5'UTR			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1371					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTGTTTCGTTACTTCTCCAGC	0.502000													8	665					0	0	1	0	0
FTSJ2	29960	broad.mit.edu	37	7	2274853	2274853	+	Silent	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:2274853T>A	ENST00000242257.8	-	3	673	c.645A>T	c.(643-645)gtA>gtT	p.V215V	FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000486040.1_5'UTR|FTSJ2_ENST00000407040.1_Silent_p.V121V	NM_013393.1	NP_037525.1	Q9UI43	RRMJ2_HUMAN	FtsJ RNA methyltransferase homolog 2 (E. coli)	215					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		TGATGATCCTTACATTCTGGA	0.502000													54	51					0	0	1	0	0
VHL	7428	broad.mit.edu	37	3	10188200	10188200	+	Missense_Mutation	SNP	C	C	A	rs5030811		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:10188200C>A	ENST00000256474.2	+	2	1183	c.343C>A	c.(343-345)Cac>Aac	p.H115N	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	115	Involved in binding to CCT complex.		H -> Q (in VHLD; type II).|H -> R (in VHLD; type II; dbSNP:rs5030812).|H -> Y (in VHLD; type I; dbSNP:rs5030811).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.H115N(7)|p.H115Y(5)|p.?(3)|p.H115fs*15(1)|p.H115D(1)|p.H115fs*41(1)|p.H115fs*42(1)|p.H115fs*44(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCCGATAGGTCACCTTTGGCT	0.532000		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				127	75					1.02559e-39	1.22473e-39	1	1	0
SCG3	29106	broad.mit.edu	37	15	51975487	51975487	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr15:51975487G>T	ENST00000220478.3	+	4	656	c.253G>T	c.(253-255)Gaa>Taa	p.E85*	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	85					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AACAGAAAAGGAAAAAATTGA	0.373000													23	203					2.21704e-12	2.51719e-12	1	1	0
GDAP1	54332	broad.mit.edu	37	8	75276279	75276279	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr8:75276279G>A	ENST00000220822.7	+	6	834	c.754G>A	c.(754-756)Gct>Act	p.A252T	GDAP1_ENST00000434412.2_Missense_Mutation_p.A184T|GDAP1_ENST00000521096.1_3'UTR	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	252	GST C-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CGTCTCACTCGCTGTCACATT	0.498000													3	120					0	0	1	0	0
TXNDC15	79770	broad.mit.edu	37	5	134235301	134235301	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:134235301A>T	ENST00000358387.4	+	5	1634	c.1009A>T	c.(1009-1011)Att>Ttt	p.I337F	TXNDC15_ENST00000546290.1_Missense_Mutation_p.I314F	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	337					cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AATTAGTTTTATTATGTATGC	0.408000													4	69					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112899724	112899724	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:112899724G>A	ENST00000161863.4	+	20	2824	c.2611G>A	c.(2611-2613)Gta>Ata	p.V871I		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	871							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AGATCCTTTTGTACTACCTAC	0.433000													8	960					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49957789	49957789	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chrX:49957789A>T	ENST00000376056.2	-	5	1698	c.1548T>A	c.(1546-1548)aaT>aaA	p.N516K	AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Missense_Mutation_p.N525K|AKAP4_ENST00000376064.3_Missense_Mutation_p.N516K|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	525					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TCTCATCTTTATTGCTGCATG	0.473000													9	721					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51117016	51117016	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:51117016C>A	ENST00000301180.5	+	27	3232	c.3198C>A	c.(3196-3198)tgC>tgA	p.C1066*		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1066						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TCTATGGCTGCCTGTATGCGG	0.517000													11	325					5.50884e-06	6.03193e-06	1	1	0
PABPC3	5042	broad.mit.edu	37	13	25670434	25670434	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr13:25670434C>T	ENST00000281589.3	+	1	135	c.98C>T	c.(97-99)cCg>cTg	p.P33L		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	33	RRM 1.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAGTTCAGCCCGGCAGGGCCC	0.617000													7	513					0	0	1	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12954436	12954436	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:12954436G>A	ENST00000235347.4	-	3	926	c.847C>T	c.(847-849)Cac>Tac	p.H283Y		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	283										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTCCAGGTGCTCTTTGATA	0.453000													243	115					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87970890	87970890	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr6:87970890C>T	ENST00000369577.3	+	8	7586	c.7543C>T	c.(7543-7545)Cag>Tag	p.Q2515*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.Q2510*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAATGATTTTCAGGAAGATAA	0.299000													6	23					0	0	1	0	0
DNAJB4	11080	broad.mit.edu	37	1	78478852	78478852	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:78478852T>C	ENST00000370763.5	+	2	586	c.329T>C	c.(328-330)aTt>aCt	p.I110T	DNAJB4_ENST00000487931.1_3'UTR|GIPC2_ENST00000476882.1_Intron	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	110					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CCCTTTGAAATTTTCTTTGGA	0.448000													81	278					0	0	1	0	0
SUSD3	203328	broad.mit.edu	37	9	95840260	95840260	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr9:95840260G>A	ENST00000375472.3	+	3	446	c.410G>A	c.(409-411)cGg>cAg	p.R137Q	SUSD3_ENST00000375469.1_Missense_Mutation_p.R124Q	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	137						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						AAGAGCAAGCGGCGGCGCTCC	0.607000													5	757					0	0	1	0	0
AICDA	57379	broad.mit.edu	37	12	8758017	8758017	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:8758017C>T	ENST00000229335.6	-	3	324	c.221G>A	c.(220-222)cGc>cAc	p.R74H	AICDA_ENST00000537228.1_Missense_Mutation_p.R74H	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	74					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GCGGTAGCAGCGGCCAGGGTC	0.602000													73	188					0	0	1	0	0
RAD23B	5887	broad.mit.edu	37	9	110086193	110086193	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr9:110086193G>A	ENST00000358015.3	+	8	1191	c.840G>A	c.(838-840)cgG>cgA	p.R280R	RAD23B_ENST00000416373.2_Silent_p.R208R	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	280	STI1.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AATTTTTACGGAATCAGCCTC	0.358000								Direct reversal of damage;Nucleotide excision repair (NER)					7	133					0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33453474	33453474	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:33453474G>A	ENST00000265112.3	+	4	721	c.410G>A	c.(409-411)tGt>tAt	p.C137Y	TARS_ENST00000455217.2_Missense_Mutation_p.C170Y|TARS_ENST00000541634.1_Missense_Mutation_p.C33Y|TARS_ENST00000502553.1_Missense_Mutation_p.C137Y|TARS_ENST00000414361.2_Intron	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	137					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GAAGAAGATTGTACCTTGGAG	0.398000													4	219					0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19247052	19247052	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:19247052C>T	ENST00000527884.1	-	12	2369	c.2137G>A	c.(2137-2139)Ggg>Agg	p.G713R	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.G713R	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	713					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGCTGTTCCCGACAGGTACG	0.522000													17	76					0	0	1	0	0
VPS11	55823	broad.mit.edu	37	11	118948939	118948939	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:118948939C>T	ENST00000300793.6	+	12	1857	c.1815C>T	c.(1813-1815)gcC>gcT	p.A605A	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	606					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		AGCTGAAAGCCTTCCTAGAGC	0.552000													48	260					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16407888	16407888	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr20:16407888T>A	ENST00000354981.2	-	15	1632		c.e15-2		KIF16B_ENST00000378003.2_Splice_Site|KIF16B_ENST00000355755.3_Splice_Site|KIF16B_ENST00000408042.1_Splice_Site	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B						cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CATGAAGAACTAAAGTGGAAA	0.393000													5	229					0	0	1	0	0
CHMP2A	27243	broad.mit.edu	37	19	59063676	59063676	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:59063676C>T	ENST00000600118.1	-	2	723	c.298G>A	c.(298-300)Gca>Aca	p.A100T	CHMP2A_ENST00000312547.2_Missense_Mutation_p.A100T|CHMP2A_ENST00000601220.1_Missense_Mutation_p.A100T			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	100	Interaction with VPS4B.				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ATGGCTTGTGCCATCGAGTTG	0.577000													5	450					0	0	1	0	0
RAMP2	10266	broad.mit.edu	37	17	40914403	40914403	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:40914403T>C	ENST00000253796.5	+	3	262	c.194T>C	c.(193-195)gTc>gCc	p.V65A	RAMP2_ENST00000588576.1_Intron|RAMP2_ENST00000587142.1_Missense_Mutation_p.V70A|RAMP2_ENST00000589683.1_5'UTR	NM_005854.2	NP_005845.2	O60895	RAMP2_HUMAN	receptor (G protein-coupled) activity modifying protein 2	65					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	coated pit|integral to plasma membrane|lysosome	protein transporter activity			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	GAGACAGCTGTCCAATTTTGC	0.512000													5	269					0	0	1	0	0
METTL4	64863	broad.mit.edu	37	18	2547452	2547452	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr18:2547452T>A	ENST00000319888.6	-	6	1774	c.976A>T	c.(976-978)Act>Tct	p.T326S	METTL4_ENST00000574538.1_Missense_Mutation_p.T326S			Q8N3J2	METL4_HUMAN	methyltransferase like 4	326					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						GTCACCCAAGTAACAAGAAGA	0.408000													6	298					0	0	1	0	0
WDR75	84128	broad.mit.edu	37	2	190334800	190334800	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:190334800A>T	ENST00000314761.4	+	17	1879		c.e17-1			NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75							nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TTTTCCCTCTAGTGTTTGTAT	0.428000													6	418					0	0	1	0	0
ZNF772	400720	broad.mit.edu	37	19	57985282	57985282	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:57985282C>T	ENST00000343280.4	-	5	1090	c.830G>A	c.(829-831)cGc>cAc	p.R277H	ZNF772_ENST00000425074.3_3'UTR|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.R165H|ZNF772_ENST00000356584.3_Missense_Mutation_p.R236H|ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000601768.1_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R277H(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		TGAGTCTTTGCGGCTGAAGGT	0.488000													4	324					0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149749096	149749096	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:149749096G>T	ENST00000451292.1	+	6	678	c.570G>T	c.(568-570)atG>atT	p.M190I	TCOF1_ENST00000439160.2_Missense_Mutation_p.M190I|TCOF1_ENST00000445265.2_Missense_Mutation_p.M190I|TCOF1_ENST00000394269.3_Missense_Mutation_p.M190I|TCOF1_ENST00000323668.7_Missense_Mutation_p.M190I|TCOF1_ENST00000513346.1_Missense_Mutation_p.M190I|TCOF1_ENST00000504761.2_Missense_Mutation_p.M190I|TCOF1_ENST00000377797.3_Missense_Mutation_p.M190I			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	190					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCAGGGATGGTGTCAGCGG	0.627000													43	124					1.36018e-38	1.61905e-38	1	1	0
AMIGO2	347902	broad.mit.edu	37	12	47471984	47471984	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:47471984G>T	ENST00000266581.4	-	2	1268	c.802C>A	c.(802-804)Cac>Aac	p.H268N	AMIGO2_ENST00000321382.3_Missense_Mutation_p.H268N|AMIGO2_ENST00000429635.1_Missense_Mutation_p.H268N|AMIGO2_ENST00000550413.1_Missense_Mutation_p.H268N	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	268	LRRCT.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		p.H268N(2)		endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					TGACGCGAGTGCCTGGAGTCA	0.478000													6	129					0.00116845	0.00122837	1	1	0
HERC2P4	100289574	broad.mit.edu	37	16	32163517	32163517	+	RNA	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:32163517C>T	ENST00000564145.1	-	0	65																											CGGGGTGATGCCAGTCACGGT	0.562000													4	279					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52662912	52662912	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:52662912G>A	ENST00000356770.4	-	11	1347	c.1345C>T	c.(1345-1347)Cag>Tag	p.Q449*	PBRM1_ENST00000409114.3_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.Q481*			Q86U86	PB1_HUMAN	polybromo 1	481	Bromo 3.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AATCACACCTGCATAACTTGC	0.358000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								41	59					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48511101	48511101	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:48511101A>T	ENST00000446524.1	+	1	833	c.757A>T	c.(757-759)Att>Ttt	p.I253F		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGTTCCTTGTATTTTTATGTA	0.428000													9	645					0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116932982	116932982	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:116932982A>G	ENST00000537345.1	+	9	1534	c.1171A>G	c.(1171-1173)Atg>Gtg	p.M391V	ATP1A1_ENST00000369496.4_Missense_Mutation_p.M360V|ATP1A1_ENST00000295598.5_Missense_Mutation_p.M391V	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	391					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	AGTGGCCCACATGTGGTTTGA	0.507000													53	68					0	0	1	0	0
CASP10	843	broad.mit.edu	37	2	202060612	202060612	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:202060612C>A	ENST00000286186.6	+	5	1060	c.625C>A	c.(625-627)Caa>Aaa	p.Q209K	CASP10_ENST00000360132.3_Missense_Mutation_p.Q209K|CASP10_ENST00000313728.7_Missense_Mutation_p.Q209K|CASP10_ENST00000272879.5_Missense_Mutation_p.Q209K|CASP10_ENST00000374650.3_Missense_Mutation_p.Q209K|CASP10_ENST00000448480.1_Missense_Mutation_p.Q209K|CASP10_ENST00000346817.5_Missense_Mutation_p.Q209K|CASP10_ENST00000492363.1_3'UTR	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	209					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						CGAGTCGTATCAAGGAGAGGA	0.433000													260	770					5.30575e-70	6.48285e-70	1	1	0
MAGEC1	9947	broad.mit.edu	37	X	140994960	140994960	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567000										HNSCC(15;0.026)			6	497					0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69379378	69379378	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:69379378G>T	ENST00000303714.4	+	13	1351	c.1029G>T	c.(1027-1029)tgG>tgT	p.W343C	ANTXR1_ENST00000409349.3_Missense_Mutation_p.W343C	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	343					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GGTGGTTCTGGCCCCTCTGCT	0.567000									Familial Infantile Hemangioma				7	431					5.18039e-06	5.68918e-06	1	1	0
CCDC47	57003	broad.mit.edu	37	17	61843526	61843526	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:61843526A>T	ENST00000225726.5	-	2	392	c.10T>A	c.(10-12)Ttc>Atc	p.F4I	CCDC47_ENST00000582252.1_Missense_Mutation_p.F4I|CCDC47_ENST00000403162.3_Missense_Mutation_p.F4I	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	4						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						AAAGTGTGGAAGGCTTTCATT	0.363000													5	185					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29687570	29687570	+	Nonsense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:29687570C>G	ENST00000358273.4	+	57	8609	c.8226C>G	c.(8224-8226)taC>taG	p.Y2742*	NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Nonsense_Mutation_p.Y535*|NF1_ENST00000356175.3_Nonsense_Mutation_p.Y2721*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2742					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTGACACGTACCTGCCTGGAA	0.428000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			109	141					0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7043425	7043425	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:7043425C>T	ENST00000356654.4	+	3	351	c.114C>T	c.(112-114)gtC>gtT	p.V38V	ATN1_ENST00000396684.2_Silent_p.V38V	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	38					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CTGGAGGGGTCAGCACGTCCA	0.617000													5	518					0	0	1	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46917575	46917575	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr13:46917575G>A	ENST00000378797.2	-	14	2384	c.1780C>T	c.(1780-1782)Cga>Tga	p.R594*	KIAA0226L_ENST00000409879.2_Missense_Mutation_p.A488V|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.A510V|KIAA0226L_ENST00000429979.1_Missense_Mutation_p.A645V|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.A578V|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.A488V|KIAA0226L_ENST00000378787.3_Nonsense_Mutation_p.R594*|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.A645V|KIAA0226L_ENST00000378781.3_3'UTR			Q9H714	CM018_HUMAN	KIAA0226-like	0										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TGTGATCCTCGCACACCGGGG	0.517000													4	222					0	0	1	0	0
RNF20	56254	broad.mit.edu	37	9	104312929	104312929	+	Silent	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr9:104312929T>C	ENST00000389120.3	+	10	1224	c.1134T>C	c.(1132-1134)acT>acC	p.T378T		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	378					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TTAAGGAAACTCCAGAATATC	0.507000													5	380					0	0	1	0	0
GRHL3	57822	broad.mit.edu	37	1	24674000	24674000	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:24674000C>A	ENST00000361548.4	+	14	1816	c.1586C>A	c.(1585-1587)gCg>gAg	p.A529E	GRHL3_ENST00000356046.2_Missense_Mutation_p.A483E|GRHL3_ENST00000350501.5_Missense_Mutation_p.A529E|GRHL3_ENST00000342072.4_Missense_Mutation_p.A436E|GRHL3_ENST00000236255.4_Missense_Mutation_p.A534E	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	529					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GTGTTTGACGCGCTCATGTTG	0.577000													4	80					0.00024832	0.000265594	1	1	0
RNASE4	6038	broad.mit.edu	37	14	21167618	21167618	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr14:21167618G>A	ENST00000555835.1	+	2	764	c.88G>A	c.(88-90)Gat>Aat	p.D30N	AL163636.6_ENST00000553909.1_RNA|RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000304704.4_Missense_Mutation_p.D30N|RNASE4_ENST00000555597.1_Missense_Mutation_p.D30N|RNASE4_ENST00000397995.2_Missense_Mutation_p.D30N	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	30					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		CTATGGCCAGGATGGCATGTA	0.562000													6	354					0	0	1	0	0
RUFY1	80230	broad.mit.edu	37	5	179004074	179004074	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:179004074A>T	ENST00000377001.2	+	6	828		c.e6-1		RUFY1_ENST00000437570.2_Splice_Site|RUFY1_ENST00000319449.4_Splice_Site|RUFY1_ENST00000393438.2_Splice_Site			Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1						endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TATTTCGTTTAGGTTGGAGTA	0.313000										HNSCC(44;0.11)			5	161					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21123085	21123085	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:21123085G>T	ENST00000261383.3	-	14	1960	c.1961C>A	c.(1960-1962)tCc>tAc	p.S654Y	DNAH3_ENST00000415178.1_Missense_Mutation_p.S654Y	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	654	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S654C(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GATGTTCATGGATGCAATTTC	0.458000													69	124					5.12816e-46	6.16381e-46	1	1	0
GALNT3	2591	broad.mit.edu	37	2	166611170	166611170	+	Silent	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:166611170A>T	ENST00000392701.3	-	9	2368	c.1593T>A	c.(1591-1593)atT>atA	p.I531I	GALNT3_ENST00000409882.1_Silent_p.I269I	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	531	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						ATGTATACATAATTAATGGTT	0.368000													31	64					0	0	1	0	0
IFNA21	3452	broad.mit.edu	37	9	21166058	21166058	+	Nonsense_Mutation	SNP	A	A	T	rs142245609		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr9:21166058A>T	ENST00000380225.1	-	1	601	c.554T>A	c.(553-555)tTa>tAa	p.L185*		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	185					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTTCCTCCTTAATCTTTCTTG	0.378000													4	146					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193068950	193068950	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:193068950G>A	ENST00000342358.4	-	7	764	c.647C>T	c.(646-648)aCt>aTt	p.T216I		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	216					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CAGCCACAAAGTTAGGGTGAA	0.403000													31	254					0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118434631	118434631	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr10:118434631C>G	ENST00000369209.3	-	12	1793	c.1689G>C	c.(1687-1689)tgG>tgC	p.W563C		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	563							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CGTCGGTGCACCACCGAGTGC	0.642000													57	27					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24583108	24583108	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:24583108T>A	ENST00000319715.4	+	18	5153	c.4721T>A	c.(4720-4722)tTa>tAa	p.L1574*	RBBP6_ENST00000348022.2_Nonsense_Mutation_p.L1540*|RBBP6_ENST00000381039.3_Nonsense_Mutation_p.L734*	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1574					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAGCATGTATTAGAAGCAAGG	0.358000													4	146					0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34814686	34814686	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:34814686A>T	ENST00000265109.3	+	12	1139		c.e12-1		RAI14_ENST00000506376.1_Splice_Site|RAI14_ENST00000428746.2_Splice_Site|RAI14_ENST00000512629.1_Splice_Site|RAI14_ENST00000503673.1_Splice_Site|RAI14_ENST00000397449.1_Splice_Site|RAI14_ENST00000515799.1_Splice_Site	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14							cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TTTCTTTTTTAGTTGAGTGAT	0.368000													4	54					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T	rs148404065	by1000genomes	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:43587657C>T	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GGTGACAACACATCTGTTTTA	0.323000													3	49					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32632561	32632561	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr9:32632561G>A	ENST00000242310.4	-	1	3106	c.3017C>T	c.(3016-3018)aCa>aTa	p.T1006I		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1006					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCCTGTCACTGTCTTCTTCAC	0.453000													13	439					0	0	1	0	0
ARNTL	406	broad.mit.edu	37	11	13375946	13375946	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:13375946A>G	ENST00000389708.3	+	5	446	c.91A>G	c.(91-93)Agt>Ggt	p.S31G	ARNTL_ENST00000361003.4_Missense_Mutation_p.S31G|ARNTL_ENST00000389707.4_Missense_Mutation_p.S31G|ARNTL_ENST00000403290.1_Missense_Mutation_p.S31G|ARNTL_ENST00000401424.1_5'UTR|ARNTL_ENST00000403510.3_5'UTR|ARNTL_ENST00000396441.3_Missense_Mutation_p.S31G			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	31					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TCTTGGTACCAGTGGTGTGGA	0.512000													53	205					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51791649	51791649	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr15:51791649C>G	ENST00000251076.5	-	18	4059	c.3772G>C	c.(3772-3774)Ggg>Cgg	p.G1258R	DMXL2_ENST00000543779.2_Missense_Mutation_p.G1258R|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1258						cell junction|synaptic vesicle membrane	Rab GTPase binding	p.G1258W(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACCAATATCCCATCTCTTACC	0.413000													237	176					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849825	73849825	+	Silent	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr8:73849825G>T	ENST00000523207.1	+	3	2823	c.2235G>T	c.(2233-2235)tcG>tcT	p.S745S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	745					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTGACTTTTCGCTCACTACCC	0.567000													5	262					3.59834e-05	3.90525e-05	1	1	0
KRTAP4-12	83755	broad.mit.edu	37	17	39280087	39280087	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:39280087G>A	ENST00000394014.1	-	1	332	c.288C>T	c.(286-288)tgC>tgT	p.C96C		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	96	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament		p.C96C(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGGTGGGCTGGCAGCACACAG	0.667000													4	113					0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57013213	57013213	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr6:57013213A>C	ENST00000370706.4	+	10	2574	c.2330A>C	c.(2329-2331)aAa>aCa	p.K777T	RP11-203B9.4_ENST00000592500.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.K777T|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.K777T	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	777					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CAAGTGCACAAAGAAAAGAGT	0.438000													12	38					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771624	143771624	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:143771624G>T	ENST00000408898.2	+	1	350	c.312G>T	c.(310-312)ttG>ttT	p.L104F		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TTCTGTTTTTGAGTTTTGCAC	0.532000													6	454					1.6384e-10	1.8432e-10	1	1	0
ENHO	375704	broad.mit.edu	37	9	34521629	34521629	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr9:34521629A>C	ENST00000399775.2	-	2	490	c.65T>G	c.(64-66)tTg>tGg	p.L22W	RP11-296L22.8_ENST00000439960.1_RNA	NM_198573.2	NP_940975.2	Q6UWT2	ENHO_HUMAN	energy homeostasis associated	22						extracellular region				endometrium(1)|lung(1)	2						CAGCAGCAGCAAGAAGCCCAC	0.632000													12	21					0	0	1	0	0
AAK1	22848	broad.mit.edu	37	2	69708094	69708094	+	Splice_Site	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:69708094C>A	ENST00000409085.4	-	19	2844		c.e19-1		AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1							coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						TCAGCTTTTTCTTTCGTAACA	0.453000													3	39					0.115264	0.116527	1	1	0
ZNF618	114991	broad.mit.edu	37	9	116811976	116811976	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr9:116811976G>A	ENST00000288466.7	+	14	2214	c.2115G>A	c.(2113-2115)gtG>gtA	p.V705V	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Silent_p.V798V	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	798					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						ACTTCAAGGTGCACCCGGCCC	0.622000													13	273					0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50869645	50869645	+	Nonstop_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:50869645T>A	ENST00000398473.2	+	16	2285	c.2173T>A	c.(2173-2175)Taa>Aaa	p.*725K	LARP4_ENST00000429001.3_Nonstop_Mutation_p.*731K|LARP4_ENST00000293618.8_Nonstop_Mutation_p.*654K|LARP4_ENST00000518444.1_Nonstop_Mutation_p.*724K|LARP4_ENST00000347328.5_Nonstop_Mutation_p.*654K	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	0							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ATCACCAAAGTAAAAAACAAC	0.448000													6	64					0	0	1	0	0
DCTN5	84516	broad.mit.edu	37	16	23672509	23672509	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:23672509A>T	ENST00000300087.2	+	4	406	c.255A>T	c.(253-255)ttA>ttT	p.L85F	DCTN5_ENST00000563998.1_Missense_Mutation_p.L85F|DCTN5_ENST00000568589.1_Missense_Mutation_p.L85F	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	85						centrosome	transferase activity			endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		TCTTTCCTTTACATATTGGAG	0.383000													4	169					0	0	1	0	0
SNRPB	6628	broad.mit.edu	37	20	2448399	2448399	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr20:2448399C>A	ENST00000461548.1	-	6	572	c.310G>T	c.(310-312)Ggg>Tgg	p.G104W	SNRPB_ENST00000438552.2_Silent_p.V3V|SNRPB_ENST00000339610.6_5'UTR|SNRPB_ENST00000381342.2_Silent_p.V3V																							TGCTCTTGCCCACCGTCTGCA	0.532000													109	280					2.12867e-53	2.57534e-53	1	1	0
SUMF2	25870	broad.mit.edu	37	7	56142409	56142409	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:56142409C>T	ENST00000434526.2	+	5	603	c.572C>T	c.(571-573)gCc>gTc	p.A191V	SUMF2_ENST00000342190.6_Missense_Mutation_p.A191V|SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000275607.9_Missense_Mutation_p.A84V|SUMF2_ENST00000395436.2_Missense_Mutation_p.A176V|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000413756.1_Missense_Mutation_p.A172V	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	172						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGGAGTTTGCCGCCCGAGGG	0.567000											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	323					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25417853	25417853	+	RNA	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr15:25417853T>C	ENST00000549301.1	+	0	503				SNORD115-2_ENST00000362842.1_RNA|SNHG14_ENST00000553149.1_RNA																							AATAGGATTATGCTGAGGCCC	0.522000													5	58					0	0	1	0	0
WEE2	494551	broad.mit.edu	37	7	141429434	141429434	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:141429434C>T	ENST00000397541.2	+	11	2045	c.1639C>T	c.(1639-1641)Ctg>Ttg	p.L547L	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	547					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CACAAAACGCCTGGTGGGAGG	0.542000													7	279					0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1652508	1652508	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:1652508C>T	ENST00000426508.2	-	4	595	c.232G>A	c.(232-234)Gtg>Atg	p.V78M	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	78										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TCCCAGCCCACAGCCAGCACC	0.617000													47	107					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216380760	216380760	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:216380760T>G	ENST00000366943.2	-	16	3557	c.3171A>C	c.(3169-3171)caA>caC	p.Q1057H	USH2A_ENST00000366942.3_Missense_Mutation_p.Q1057H|USH2A_ENST00000307340.3_Missense_Mutation_p.Q1057H			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1057					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGGCGGAGGTTGCTGGAATG	0.413000										HNSCC(13;0.011)			104	278					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5567392	5567392	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:5567392C>T	ENST00000331789.5	-	6	1306	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	ACTB_ENST00000464611.1_5'UTR	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	372					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GAAGCATTTGCGGTGGACGAT	0.522000													5	888					0	0	1	0	0
CSPG5	10675	broad.mit.edu	37	3	47618421	47618421	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:47618421C>T	ENST00000383738.2	-	2	3193	c.1095G>A	c.(1093-1095)cgG>cgA	p.R365R	CSPG5_ENST00000264723.4_Silent_p.R365R|CSPG5_ENST00000456150.1_Silent_p.R227R	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	365					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AGCCGTTATGCCGCACAAAGC	0.627000													4	77					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48269420	48269420	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:48269420A>T	ENST00000435803.1	+	7	656		c.e7-1			NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13						transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTTGGTTCTAGTTCCTTAAT	0.398000													5	410					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40677921	40677921	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:40677921T>A	ENST00000298910.7	+	19	2544	c.2486T>A	c.(2485-2487)tTa>tAa	p.L829*	LRRK2_ENST00000343742.2_Nonsense_Mutation_p.L829*	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	829					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACTTCTAATTTAAGGAAACAA	0.318000													5	112					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	19955432	19955432	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:19955432A>G	ENST00000396085.1	+	7	2003	c.1642A>G	c.(1642-1644)Aag>Gag	p.K548E	NAV2_ENST00000540292.1_Missense_Mutation_p.K502E|NAV2_ENST00000396087.3_Missense_Mutation_p.K571E|NAV2_ENST00000349880.4_Missense_Mutation_p.K548E|NAV2_ENST00000527559.2_Missense_Mutation_p.K500E|NAV2_ENST00000360655.4_Missense_Mutation_p.K484E	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	571						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CAAAGGGGGGAAGCTCAACAG	0.562000													3	375					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31152299	31152299	+	Silent	SNP	G	G	A	rs147474295		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:31152299G>A	ENST00000349752.5	-	11	1752	c.1113C>T	c.(1111-1113)taC>taT	p.Y371Y	GALNT14_ENST00000406653.1_Silent_p.Y351Y|GALNT14_ENST00000356174.3_Silent_p.Y338Y|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Silent_p.Y376Y|GALNT14_ENST00000420311.2_Silent_p.Y336Y	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	371						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GCCGGGCAGCGTAATAGTATT	0.552000													4	360					0	0	1	0	0
MAP2K7	5609	broad.mit.edu	37	19	7977212	7977212	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:7977212C>A	ENST00000545011.1	+	11	1347	c.1282C>A	c.(1282-1284)Ctg>Atg	p.L428M	MAP2K7_ENST00000397983.3_Missense_Mutation_p.L402M|MAP2K7_ENST00000397979.3_Missense_Mutation_p.L386M|MAP2K7_ENST00000397981.3_Missense_Mutation_p.L393M			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	386					activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	CTACGAGACGCTGGAGGTGGA	0.652000													13	23					0.0931896	0.0947299	1	1	0
APAF1	317	broad.mit.edu	37	12	99100261	99100261	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:99100261A>T	ENST00000357310.1	+	18	3043		c.e18-1		APAF1_ENST00000547045.1_Splice_Site|APAF1_ENST00000359972.2_Splice_Site|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000339433.3_Splice_Site|APAF1_ENST00000550527.1_Splice_Site|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000551964.1_Splice_Site|APAF1_ENST00000549007.1_Splice_Site	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1						activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TTTATTCTGTAGTTGTGGAAT	0.368000													8	483					0	0	1	0	0
MFSD6	54842	broad.mit.edu	37	2	191301590	191301590	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:191301590T>C	ENST00000392328.1	+	3	1159	c.835T>C	c.(835-837)Tat>Cat	p.Y279H	MFSD6_ENST00000281416.7_Missense_Mutation_p.Y279H	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	279					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CATGCTTGTTTATGATCAACA	0.428000													231	577					0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129775610	129775610	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:129775610G>T	ENST00000358825.5	-	21	3433	c.3202C>A	c.(3202-3204)Cct>Act	p.P1068T	PRDM10_ENST00000360871.3_Missense_Mutation_p.P1064T|PRDM10_ENST00000528746.1_Missense_Mutation_p.P1025T|PRDM10_ENST00000423662.2_Missense_Mutation_p.P969T|PRDM10_ENST00000304538.6_Missense_Mutation_p.P931T|PRDM10_ENST00000526082.1_Missense_Mutation_p.P982T	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	1055					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGACCCGGAGGAAGCGTCATC	0.438000													9	117					7.48243e-07	8.26652e-07	1	1	0
MPHOSPH6	10200	broad.mit.edu	37	16	82182372	82182372	+	Silent	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:82182372A>T	ENST00000258169.4	-	5	497	c.447T>A	c.(445-447)atT>atA	p.I149I	MPHOSPH6_ENST00000563504.1_Silent_p.I120I	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	149					M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding			endometrium(1)|large_intestine(1)|lung(3)	5						TCTTTGCTTTAATTGGTGTTA	0.453000													5	283					0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19119239	19119239	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:19119239T>A	ENST00000601879.1	-	6	2636		c.e6-2		SUGP2_ENST00000337018.6_Splice_Site|SUGP2_ENST00000600377.1_Splice_Site|SUGP2_ENST00000456085.2_Splice_Site|SUGP2_ENST00000452918.2_Splice_Site			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2						mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCATGTCAACTACAAAACATA	0.473000													7	638					0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45550649	45550649	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr21:45550649C>A	ENST00000291576.7	+	21	2883	c.2756C>A	c.(2755-2757)gCc>gAc	p.A919D		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	919						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GAGATGCTGGCCTAGAGCCAG	0.597000													77	1265					1.00798e-23	1.17704e-23	1	1	0
LRRC32	2615	broad.mit.edu	37	11	76371567	76371567	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:76371567C>T	ENST00000407242.2	-	3	1312	c.1070G>A	c.(1069-1071)cGg>cAg	p.R357Q	LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.R357Q|LRRC32_ENST00000404995.1_Missense_Mutation_p.R357Q|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	357						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GCCTAAGCGCCGGGCCTCAAA	0.592000													17	73					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7727281	7727281	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:7727281C>T	ENST00000572933.1	+	75	12919	c.11459C>T	c.(11458-11460)cCt>cTt	p.P3820L	DNAH2_ENST00000389173.2_Missense_Mutation_p.P3820L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3820	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATCGAGCCGCCTGTGCTGAAT	0.602000													3	202					0	0	1	0	0
ERGIC1	57222	broad.mit.edu	37	5	172341926	172341926	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:172341926T>A	ENST00000326654.2	+	3	540	c.325T>A	c.(325-327)Tca>Aca	p.S109T	ERGIC1_ENST00000523291.1_Intron|ERGIC1_ENST00000393784.3_Intron			Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	0					ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTGGAGGCACTCACTCGACCT	0.612000													24	5					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277527	152277527	+	Missense_Mutation	SNP	C	C	T	rs115482787		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:152277527C>T	ENST00000368799.1	-	3	9870	c.9835G>A	c.(9835-9837)Gca>Aca	p.A3279T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3279	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.A3279T(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAGTCTCTGCGTGACGAGTG	0.602000									Ichthyosis				7	1045					0	0	1	0	0
HOMER1	9456	broad.mit.edu	37	5	78697880	78697880	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:78697880T>A	ENST00000334082.6	-	6	1970		c.e6-2		HOMER1_ENST00000282260.6_Intron|HOMER1_ENST00000535690.1_Splice_Site|HOMER1_ENST00000508576.1_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)						activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		ATTGCTGAACTAAAATAAAAC	0.408000													7	69					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38797338	38797338	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:38797338C>A	ENST00000449082.2	-	10	1401	c.1402G>T	c.(1402-1404)Gag>Tag	p.E468*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	468					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTGGAGCCCTCTGACACTCTT	0.478000													153	437					1.29601e-68	1.5783e-68	1	1	0
CCDC112	153733	broad.mit.edu	37	5	114607213	114607213	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:114607213A>T	ENST00000379611.5	-	7	1316	c.1029T>A	c.(1027-1029)aaT>aaA	p.N343K	CCDC112_ENST00000512261.1_Missense_Mutation_p.N260K|CCDC112_ENST00000506442.1_Missense_Mutation_p.N260K|CCDC112_ENST00000395557.4_Missense_Mutation_p.N260K	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	260										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		tttgcttttgattatcctctt	0.338000													4	75					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16359478	16359478	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr20:16359478G>C	ENST00000354981.2	-	19	3326	c.3169C>G	c.(3169-3171)Cag>Gag	p.Q1057E	KIF16B_ENST00000378003.2_Missense_Mutation_p.Q283E|KIF16B_ENST00000355755.3_Missense_Mutation_p.Q1057E|KIF16B_ENST00000408042.1_Missense_Mutation_p.Q1057E	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1057	Glu-rich.			EQ -> SE (in Ref. 6; AAH34984).	cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.Q1057*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AGGGCTTCCTGCTCAGCCTCC	0.557000													207	427					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6170533	6170533	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:6170533A>T	ENST00000262450.3	-	37	5402	c.5303T>A	c.(5302-5304)cTc>cAc	p.L1768H	CHD5_ENST00000378021.1_Missense_Mutation_p.L625H	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1768					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGGCTCGTTGAGGATCATGTA	0.572000													55	17					0	0	1	0	0
LYAR	55646	broad.mit.edu	37	4	4276152	4276152	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr4:4276152G>T	ENST00000343470.4	-	7	1014	c.774C>A	c.(772-774)agC>agA	p.S258R	LYAR_ENST00000452476.1_Missense_Mutation_p.S258R	NM_017816.2	NP_060286.1	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	258	Lys-rich.					nucleolus	metal ion binding|protein binding			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCTCACTGGCGCTGTCCTTGC	0.602000													26	846					3.73148e-12	4.22367e-12	1	1	0
NAV3	89795	broad.mit.edu	37	12	78515718	78515718	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:78515718A>T	ENST00000397909.2	+	16	3922		c.e16-1		NAV3_ENST00000536525.2_Splice_Site|NAV3_ENST00000228327.6_Splice_Site|NAV3_ENST00000266692.7_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3							nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTTTTCTTTTAGGTTGTTTGG	0.423000										HNSCC(70;0.22)			5	236					0	0	1	0	0
GALNT2	2590	broad.mit.edu	37	1	230391013	230391013	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:230391013G>A	ENST00000541865.1	+	9	871	c.685G>A	c.(685-687)Gtg>Atg	p.V229M	GALNT2_ENST00000543760.1_Silent_p.P315P|GALNT2_ENST00000366672.4_Silent_p.P353P			Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	85	Catalytic subdomain A.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				AGATCATCCCGTGCAGCCGTG	0.607000													5	576					0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34666597	34666597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:34666597C>T	ENST00000488417.1	+	3	1354	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	C1orf94_ENST00000373374.3_Nonsense_Mutation_p.R222*	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	222							protein binding	p.R222*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GCCGAGACTTCGAAACAAAGT	0.577000													11	31					0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271141	59271141	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:59271141A>T	ENST00000313253.1	+	1	93	c.93A>T	c.(91-93)ttA>ttT	p.L31F		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TTCTTTTTTTATGTCTTGTGT	0.448000													5	221					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50122701	50122701	+	RNA	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chrX:50122701A>G	ENST00000376025.2	-	0	2845							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AATGCCTTGCAGGTTTGGCAA	0.443000													5	420					0	0	1	0	0
CASQ1	844	broad.mit.edu	37	1	160160577	160160577	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:160160577G>A	ENST00000368079.3	+	1	293	c.18G>A	c.(16-18)gtG>gtA	p.V6V	CASQ1_ENST00000368078.3_Silent_p.V12V	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	12						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCAGAGCTGTGCCGGGTCTGC	0.627000													20	120					0	0	1	0	0
BRF2	55290	broad.mit.edu	37	8	37704498	37704498	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr8:37704498G>A	ENST00000220659.6	-	3	530	c.410C>T	c.(409-411)gCc>gTc	p.A137V	BRF2_ENST00000520601.1_Missense_Mutation_p.A137V|BRF2_ENST00000521170.1_3'UTR	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	137					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CGTGCAGATGGCCCCCATTGT	0.532000													8	932					0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38128989	38128989	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr21:38128989A>T	ENST00000399120.1	-	11	3093	c.1863T>A	c.(1861-1863)aaT>aaA	p.N621K	HLCS_ENST00000336648.3_Missense_Mutation_p.N621K	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	621					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TGTGTTGTTTATTGTATTCTG	0.443000													7	617					0	0	1	0	0
FBXO9	26268	broad.mit.edu	37	6	52945779	52945779	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr6:52945779G>A	ENST00000244426.6	+	5	623	c.451G>A	c.(451-453)Gat>Aat	p.D151N	FBXO9_ENST00000370939.3_Missense_Mutation_p.D107N|FBXO9_ENST00000323557.7_Missense_Mutation_p.D141N	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	151						ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					TGAAGATAATGATGATGACAG	0.398000													6	58					0	0	1	0	0
IFNLR1	163702	broad.mit.edu	37	1	24485612	24485612	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:24485612G>T	ENST00000327535.1	-	6	743	c.731C>A	c.(730-732)gCa>gAa	p.A244E	IFNLR1_ENST00000374419.1_Missense_Mutation_p.A161E|IFNLR1_ENST00000374421.3_Missense_Mutation_p.A244E|IFNLR1_ENST00000327575.2_Intron	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1			interferon, lambda receptor 1																		CACACCCCCTGCGGCAATTAC	0.527000													5	197					0.000602214	0.000634906	1	1	0
TRIM68	55128	broad.mit.edu	37	11	4621656	4621656	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:4621656G>T	ENST00000300747.5	-	7	1597	c.1308C>A	c.(1306-1308)ttC>ttA	p.F436L		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	436	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCACATTGTAGAAAGAAATGT	0.547000													6	154					0.0215528	0.0220304	1	1	0
MCTP1	79772	broad.mit.edu	37	5	94043228	94043228	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:94043228A>T	ENST00000515393.1	-	23	2972	c.2973T>A	c.(2971-2973)taT>taA	p.Y991*	MCTP1_ENST00000312216.8_Nonsense_Mutation_p.Y770*|MCTP1_ENST00000514040.1_Intron|MCTP1_ENST00000429576.2_Nonsense_Mutation_p.Y684*|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000505078.1_Nonsense_Mutation_p.Y507*	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	991					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TCTTTCTTTTATATGGGCTAT	0.453000													7	381					0	0	1	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113219494	113219494	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr13:113219494T>A	ENST00000261965.3	-	3	371		c.e3-2		TUBGCP3_ENST00000375669.3_Splice_Site	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3						G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GTCGAATAACTGAAAAGACAG	0.363000													7	311					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771625	143771625	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:143771625A>T	ENST00000408898.2	+	1	351	c.313A>T	c.(313-315)Agt>Tgt	p.S105C		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TCTGTTTTTGAGTTTTGCACA	0.527000													6	456					0	0	1	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123678961	123678961	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:123678961A>T	ENST00000606320.1	-	13	2419	c.2213T>A	c.(2212-2214)cTa>cAa	p.L738Q	MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.L586Q|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.L708Q|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.L586Q			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	586					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CTCTTGTTTTAGTTGAGCTTC	0.308000													3	20					0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71129001	71129001	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr8:71129001T>A	ENST00000452400.2	-	3	163		c.e3-2			NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2						cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TATCAGCAACTAAAACAGAAA	0.408000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								5	90					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156746796	156746796	+	Translation_Start_Site	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:156746796G>A	ENST00000442283.2	+	0	1520				CYFIP2_ENST00000522463.1_Silent_p.Q265Q|CYFIP2_ENST00000377576.3_Silent_p.Q461Q|CYFIP2_ENST00000347377.6_Silent_p.Q461Q|CYFIP2_ENST00000521420.1_Silent_p.Q435Q|CYFIP2_ENST00000541131.1_Silent_p.Q386Q|CYFIP2_ENST00000435847.2_Silent_p.Q135Q|CYFIP2_ENST00000318218.6_Silent_p.Q461Q	NM_001037333.1	NP_001032410.1	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2						apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGGCCTGCAGGTGCTCATGG	0.602000													176	318					0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44492932	44492932	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:44492932T>C	ENST00000425708.2	-	3	813	c.472A>G	c.(472-474)Aca>Gca	p.T158A	ZNF445_ENST00000396077.2_Missense_Mutation_p.T158A			P59923	ZN445_HUMAN	zinc finger protein 445	158					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AGGGCTCCTGTACCCATCCAA	0.547000													9	1288					0	0	1	0	0
EIF3L	51386	broad.mit.edu	37	22	38259287	38259287	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr22:38259287G>C	ENST00000412331.2	+	7	1096	c.514G>C	c.(514-516)Ggt>Cgt	p.G172R	EIF3L_ENST00000381683.6_Intron|EIF3L_ENST00000406934.1_Missense_Mutation_p.G74R|EIF3L_ENST00000476955.1_Intron	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	172						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGATGCCGATGGTCCTGCTCC	0.443000													59	119					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215868936	215868936	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:215868936G>T	ENST00000272895.7	-	20	2899	c.2680C>A	c.(2680-2682)Ctc>Atc	p.L894I	ABCA12_ENST00000389661.4_Missense_Mutation_p.L576I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	894					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GACTCACCGAGTTCATCTATC	0.363000													21	35					3.5997e-14	4.11235e-14	1	1	0
CIITA	4261	broad.mit.edu	37	16	11001152	11001152	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:11001152G>A	ENST00000324288.8	+	11	1936	c.1803G>A	c.(1801-1803)cgG>cgA	p.R601R	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	601	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCCGGGACCGGCCACTTCTTC	0.622000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								3	102					0	0	1	0	0
CERS6	253782	broad.mit.edu	37	2	169622847	169622847	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:169622847C>T	ENST00000392687.4	+	10	1218	c.1018C>T	c.(1018-1020)Cct>Tct	p.P340S	CERS6_ENST00000305747.6_Intron	NM_001256126.1	NP_001243055.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	334						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GAAGTGGAACCCTTTACATGT	0.468000													51	131					0	0	1	0	0
PHTF1	10745	broad.mit.edu	37	1	114252891	114252891	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:114252891C>A	ENST00000369604.1	-	11	1737	c.1254G>T	c.(1252-1254)gaG>gaT	p.E418D	PHTF1_ENST00000393357.2_Missense_Mutation_p.E418D|PHTF1_ENST00000369598.1_Missense_Mutation_p.E373D|PHTF1_ENST00000357783.2_Missense_Mutation_p.E418D|PHTF1_ENST00000447664.2_3'UTR|PHTF1_ENST00000369596.2_Missense_Mutation_p.E365D|PHTF1_ENST00000369600.1_Missense_Mutation_p.E365D|PHTF1_ENST00000474926.1_5'UTR			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	418						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAAAACATCCTCTTTGGGGT	0.473000													48	95					4.0306e-16	4.6333e-16	1	1	0
FOXK1	221937	broad.mit.edu	37	7	4796681	4796681	+	Silent	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:4796681C>G	ENST00000328914.4	+	5	1107	c.1107C>G	c.(1105-1107)tcC>tcG	p.S369S	FOXK1_ENST00000446823.1_Silent_p.S206S	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	369					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		TCCCACGTTCCCAGGAGGAGC	0.527000													7	86					0	0	1	0	0
CPLX2	10814	broad.mit.edu	37	5	175306865	175306865	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:175306865G>T	ENST00000359546.4	+	5	865	c.222G>T	c.(220-222)aaG>aaT	p.K74N	CPLX2_ENST00000515094.1_Missense_Mutation_p.K74N|CPLX2_ENST00000393745.3_Missense_Mutation_p.K74N	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	74	Interaction with the SNARE complex (By similarity).				mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGCTGAAGAAGAAGGAGGAGA	0.647000													79	45					9.35349e-44	1.1206e-43	1	1	0
TG	7038	broad.mit.edu	37	8	133931619	133931619	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr8:133931619A>T	ENST00000220616.4	+	21	4418		c.e21-1		TG_ENST00000377869.1_Splice_Site	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin						hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTTTTTTTCTAGTTAAGTGTC	0.418000													8	108					0	0	1	0	0
SSRP1	6749	broad.mit.edu	37	11	57097569	57097569	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:57097569C>T	ENST00000278412.2	-	12	1745	c.1479G>A	c.(1477-1479)gaG>gaA	p.E493E		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	493	Asp/Glu-rich (acidic).				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						AAACTCACTCCTCTGCCACAT	0.498000													19	100					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32833840	32833840	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr22:32833840T>A	ENST00000397452.1	-	8	766		c.e8-2		BPIFC_ENST00000432451.2_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C							extracellular region	lipopolysaccharide binding|phospholipid binding										TGGTTAAAACTAAATAACCAA	0.303000													5	68					0	0	1	0	0
SMARCA1	6594	broad.mit.edu	37	X	128624166	128624166	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chrX:128624166G>A	ENST00000371122.4	-	15	1948	c.1819C>T	c.(1819-1821)Cga>Tga	p.R607*	SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.R595*|SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.R595*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	607	Helicase C-terminal.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CGATGTGCTCGATCCTAGTAG	0.328000													44	110					0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9225264	9225264	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:9225264C>T	ENST00000328194.3	-	4	1212	c.892G>A	c.(892-894)Gtg>Atg	p.V298M	DENND5A_ENST00000530044.1_Missense_Mutation_p.V298M	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	298	DENN.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGCTGAAACACATTCTCCACC	0.478000													12	156					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48808494	48808494	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr15:48808494G>T	ENST00000316623.5	-	11	1668	c.1213C>A	c.(1213-1215)Ccc>Acc	p.P405T		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	405	Pro-rich.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGGCCAAGGGGTGGGGGAGGA	0.498000													48	127					1.21353e-23	1.4126e-23	1	1	0
ATP11A	23250	broad.mit.edu	37	13	113516849	113516849	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr13:113516849A>T	ENST00000487903.1	+	25	3039	c.2951A>T	c.(2950-2952)tAt>tTt	p.Y984F	ATP11A_ENST00000375645.3_Missense_Mutation_p.Y984F|ATP11A_ENST00000283558.8_Missense_Mutation_p.Y984F|ATP11A_ENST00000375630.2_Missense_Mutation_p.Y984F			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	984					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TTTGGTGCTTATTTCGTGTTT	0.527000													4	69					0	0	1	0	0
TCF23	150921	broad.mit.edu	37	2	27373157	27373157	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:27373157G>A	ENST00000296096.5	+	2	519	c.389G>A	c.(388-390)cGc>cAc	p.R130H		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	130	Helix-loop-helix motif.				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTCACCCGCACACTCGGC	0.652000													4	386					0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131212796	131212796	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chrX:131212796T>A	ENST00000298542.4	-	12	1424	c.1249A>T	c.(1249-1251)Att>Ttt	p.I417F	FRMD7_ENST00000370879.1_Missense_Mutation_p.I297F|FRMD7_ENST00000464296.1_Missense_Mutation_p.I402F	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	417					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TCCATATAAATAAAAGGGAAA	0.463000													4	189					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32632433	32632433	+	Missense_Mutation	SNP	G	G	A	rs141135220		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr9:32632433G>A	ENST00000242310.4	-	1	3234	c.3145C>T	c.(3145-3147)Cgc>Tgc	p.R1049C		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1049					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.R1049C(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GACATTGTGCGCACCACATCA	0.473000													4	436					0	0	1	0	0
CCDC181	57821	broad.mit.edu	37	1	169390644	169390644	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:169390644A>T	ENST00000545005.1	-	4	1532	c.1025T>A	c.(1024-1026)cTa>cAa	p.L342Q	CCDC181_ENST00000367806.3_Missense_Mutation_p.L342Q|CCDC181_ENST00000367805.3_Missense_Mutation_p.L342Q|CCDC181_ENST00000491570.1_5'UTR					coiled-coil domain containing 181																		TTGTTTTTGTAGTTCTTTCTG	0.363000													5	210					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120756635	120756635	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr8:120756635T>A	ENST00000378164.2	-	24	3407		c.e24-2			NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa						G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACTGGAAAACTAAAACACACA	0.378000													5	169					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28895678	28895678	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr13:28895678C>A	ENST00000282397.4	-	23	3347	c.3096G>T	c.(3094-3096)gaG>gaT	p.E1032D	FLT1_ENST00000540678.1_Missense_Mutation_p.E250D|FLT1_ENST00000543394.1_Missense_Mutation_p.E55D	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1032	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CCACGTTGTTCTCAGATAAAA	0.373000													4	154					0.000602214	0.000634906	1	1	0
OR4K13	390433	broad.mit.edu	37	14	20502562	20502562	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr14:20502562G>A	ENST00000315693.2	-	1	357	c.356C>T	c.(355-357)gCa>gTa	p.A119V		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CCTGTCTATTGCCATGGCTAC	0.498000													6	807					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11076335	11076335	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:11076335C>A	ENST00000287766.4	+	15	2067	c.1646C>A	c.(1645-1647)cCc>cAc	p.P549H	SLC6A1_ENST00000536032.1_Missense_Mutation_p.P371H	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	549					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GTCCTCATCCCCGGGTACATG	0.572000													7	230					0.0477658	0.0486894	1	1	0
SMYD2	56950	broad.mit.edu	37	1	214507541	214507541	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:214507541A>T	ENST00000366957.5	+	11	1134		c.e11-1		SMYD2_ENST00000415093.2_Splice_Site|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2						negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		CTCTTGTTCTAGTAAGCACTA	0.572000													5	303					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94637785	94637785	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:94637785T>A	ENST00000258526.4	+	12	2621	c.2372T>A	c.(2371-2373)tTa>tAa	p.L791*		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	791					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCACATGAATTAAAAGGAAAC	0.328000													5	108					0	0	1	0	0
LGALS2	3957	broad.mit.edu	37	22	37966589	37966589	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr22:37966589C>A	ENST00000215886.4	-	3	417	c.243G>T	c.(241-243)gaG>gaT	p.E81D		NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	81	Galectin.									breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					TCACCTTGACCTCTGACCCTG	0.582000													7	347					0.00198382	0.00207374	1	1	0
ENO3	2027	broad.mit.edu	37	17	4858509	4858509	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:4858509T>C	ENST00000323997.6	+	7	716	c.584T>C	c.(583-585)gTc>gCc	p.V195A	ENO3_ENST00000519584.1_Missense_Mutation_p.V152A|ENO3_ENST00000518175.1_Missense_Mutation_p.V195A	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	195					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						CTCAAGGGGGTCATCAAGGCC	0.572000													9	700					0	0	1	0	0
PAK1IP1	55003	broad.mit.edu	37	6	10709469	10709469	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr6:10709469A>T	ENST00000379568.3	+	10	1255		c.e10-1			NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1						negative regulation of signal transduction	nucleolus|plasma membrane				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				TTTGTGTTTTAGTAAGTAAAG	0.368000													4	51					0	0	1	0	0
ENO1	2023	broad.mit.edu	37	1	8926510	8926510	+	Missense_Mutation	SNP	C	C	A	rs11544509		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:8926510C>A	ENST00000234590.4	-	7	614	c.495G>T	c.(493-495)atG>atT	p.M165I		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	165	Required for repression of c-myc promoter activity.				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TGAACTCCTGCATGGCCAGCT	0.547000													299	150					4.02062e-123	4.92893e-123	1	1	0
ABCC8	6833	broad.mit.edu	37	11	17426095	17426095	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:17426095C>T	ENST00000302539.4	-	28	3649	c.3524G>A	c.(3523-3525)tGc>tAc	p.C1175Y	ABCC8_ENST00000389817.3_Missense_Mutation_p.C1174Y	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1174	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GATGAAGTAGCACACGATGGC	0.597000													8	149					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141759688	141759688	+	Silent	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:141759688T>C	ENST00000475668.2	+	33	4035	c.3981T>C	c.(3979-3981)ccT>ccC	p.P1327P	MGAM_ENST00000549489.2_Silent_p.P1327P			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1327	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.P1327P(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGACACAGCCTTATCCTGCCT	0.463000													3	66					0	0	1	0	0
MAVS	57506	broad.mit.edu	37	20	3845153	3845153	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr20:3845153C>T	ENST00000428216.2	+	6	1004	c.876C>T	c.(874-876)aaC>aaT	p.N292N	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Silent_p.N151N	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	292					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CACCTGCCAACTCTCTGCCCT	0.602000													12	44					0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42311445	42311445	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr20:42311445C>T	ENST00000217026.4	+	4	325	c.198C>T	c.(196-198)gaC>gaT	p.D66D	MYBL2_ENST00000396863.4_Silent_p.D42D	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	66	HTH myb-type 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACCGCACTGACCAGCAATGCC	0.527000													25	1469					0	0	1	0	0
PDP2	57546	broad.mit.edu	37	16	66918367	66918367	+	Silent	SNP	C	C	T	rs79985162		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:66918367C>T	ENST00000311765.2	+	2	514	c.180C>T	c.(178-180)tgC>tgT	p.C60C	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	60					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		TTACTCTGTGCAAAGCCTACA	0.473000													22	187					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26703722	26703722	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:26703722C>G	ENST00000272371.2	-	15	1861	c.1735G>C	c.(1735-1737)Gac>Cac	p.D579H	OTOF_ENST00000403946.3_Missense_Mutation_p.D579H	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	579					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGAGGTGTCTACGATCTCC	0.662000													5	17					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62451127	62451127	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:62451127T>A	ENST00000383710.4	-	26	3902		c.e26-2		CADPS_ENST00000283269.9_Splice_Site|CADPS_ENST00000357948.3_Splice_Site|CADPS_ENST00000462768.1_Splice_Site	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator						exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AGTAACGAACTAGAAAAACAG	0.368000													7	137					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29556075	29556075	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:29556075G>A	ENST00000358273.4	+	21	2825	c.2442G>A	c.(2440-2442)aaG>aaA	p.K814K	NF1_ENST00000356175.3_Silent_p.K814K	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	814					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCATTGTTAAGAGGCGAATGT	0.418000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			68	87					0	0	1	0	0
SORD	6652	broad.mit.edu	37	15	45361216	45361216	+	Missense_Mutation	SNP	C	C	T	rs55901542		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr15:45361216C>T	ENST00000267814.9	+	7	932	c.752C>T	c.(751-753)aCg>aTg	p.T251M	SORD_ENST00000558580.1_Missense_Mutation_p.T230M	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	251					fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	NADH(DB00157)	ATCGAGTGCACGGGGGCAGAG	0.587000													13	59					0	0	1	0	0
CEP63	80254	broad.mit.edu	37	3	134277147	134277147	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:134277147C>G	ENST00000337090.3	+	13	1804	c.1631C>G	c.(1630-1632)cCa>cGa	p.P544R	CEP63_ENST00000606977.1_Missense_Mutation_p.P544R|CEP63_ENST00000513612.2_Missense_Mutation_p.P544R|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000332047.5_Intron			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	544					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATCTTTAAACCAACACACAGC	0.299000													13	93					0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38323722	38323722	+	Silent	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr22:38323722T>C	ENST00000215957.6	+	9	1896	c.1770T>C	c.(1768-1770)ggT>ggC	p.G590G	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	590	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GCAGCTCAGGTCCCCAGCCAG	0.657000													5	118					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91667731	91667731	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:91667731A>T	ENST00000359028.2	+	18	4599		c.e18-1		AKAP9_ENST00000356239.3_Splice_Site|AKAP9_ENST00000358100.2_Splice_Site			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9						G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTATTTCTTTAGGTTATTGTG	0.299000			T	BRAF	papillary thyroid								5	43					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32832520	32832520	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:32832520A>T	ENST00000421745.2	+	72	14204		c.e72-1			NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTTATTCTTTAGGTGTTGGTG	0.408000													13	454					0	0	1	0	0
EDEM2	55741	broad.mit.edu	37	20	33722751	33722751	+	Splice_Site	SNP	G	G	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr20:33722751G>C	ENST00000540582.1	-	10	1090	c.367_splice	c.e10-1	p.A123_splice	EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000374491.2_Splice_Site_p.A127_splice|EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000374492.3_Splice_Site_p.A164_splice			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	164					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GGGTCTGAAAGGCTGAACAAT	0.542000													10	247					0	0	1	0	0
TUBB1	81027	broad.mit.edu	37	20	57599336	57599336	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr20:57599336C>T	ENST00000217133.1	+	4	1123	c.854C>T	c.(853-855)tCc>tTc	p.S285F		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	285					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CGAGCCCTCTCCGTGGCCGAG	0.647000													56	72					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92732553	92732553	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:92732553G>A	ENST00000379958.2	-	3	3127	c.2858C>T	c.(2857-2859)aCa>aTa	p.T953I		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	953						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AAATTTTTCTGTCCCCCAGAA	0.398000													3	119					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106975178	106975178	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr6:106975178A>T	ENST00000369066.3	+	5	3675		c.e5-1			NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1								sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TTTTATTGTTAGTTGGATTTT	0.358000													5	112					0	0	1	0	0
B9D1	27077	broad.mit.edu	37	17	19250621	19250621	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:19250621A>C	ENST00000477478.2	-	5	625	c.292T>G	c.(292-294)Ttg>Gtg	p.L98V	B9D1_ENST00000395615.1_Missense_Mutation_p.F122C|B9D1_ENST00000395616.3_Missense_Mutation_p.F122C|B9D1_ENST00000575403.1_Missense_Mutation_p.L98V|B9D1_ENST00000461069.2_Missense_Mutation_p.F122C|B9D1_ENST00000261499.4_Missense_Mutation_p.F122C|B9D1_ENST00000268841.6_Missense_Mutation_p.F122C			Q9UPM9	B9D1_HUMAN	B9 protein domain 1	0	B9.				cilium assembly	centrosome|microtubule basal body	protein binding			large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TTCTGGGACAAACATGGGGAT	0.463000													23	210					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419890	105419890	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr14:105419890A>T	ENST00000333244.5	-	7	2017	c.1898T>A	c.(1897-1899)tTa>tAa	p.L633*	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	633						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTGTCTTTTAATCCTTCCTC	0.413000													6	182					0	0	1	0	0
FBXO7	25793	broad.mit.edu	37	22	32879882	32879882	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr22:32879882A>T	ENST00000266087.7	+	3	744		c.e3-1		FBXO7_ENST00000397426.1_Splice_Site|FBXO7_ENST00000382058.3_Splice_Site	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7						cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCTTTTTCAGTTAGGGCCT	0.353000													8	167					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343613	248343613	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:248343613G>A	ENST00000359682.2	+	1	326	c.326G>A	c.(325-327)gGc>gAc	p.G109D		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCACTGTCTGGCTCTGAATGT	0.413000													8	488					0	0	1	0	0
CCDC41	51134	broad.mit.edu	37	12	94772668	94772668	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:94772668A>T	ENST00000397809.5	-	7	1249	c.700T>A	c.(700-702)Tta>Ata	p.L234I	CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000339839.5_Missense_Mutation_p.L234I|CCDC41_ENST00000397807.2_Missense_Mutation_p.L201I|CCDC41_ENST00000547575.1_Missense_Mutation_p.L234I	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	226										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TCAGCCTTTAATTCCGCTACT	0.438000													104	176					0	0	1	0	0
ENO3	2027	broad.mit.edu	37	17	4858898	4858898	+	Splice_Site	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:4858898T>C	ENST00000323997.6	+	8	996	c.865_splice	c.e8+1	p.P288_splice	ENO3_ENST00000519584.1_Splice_Site_p.P245_splice|ENO3_ENST00000518175.1_Splice_Site_p.P288_splice	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	288					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						AGAACTATCCTGGTGAGGCGT	0.522000													9	953					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25058816	25058816	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr13:25058816C>T	ENST00000381989.3	-	12	1528	c.1423G>A	c.(1423-1425)Ggg>Agg	p.G475R		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	475	PARP catalytic.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AAATAAATCCCACTTCCAAGG	0.428000													13	193					0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33411389	33411389	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr6:33411389G>A	ENST00000418600.2	+	15	3161	c.3060G>A	c.(3058-3060)cgG>cgA	p.R1020R	SYNGAP1_ENST00000428982.2_Silent_p.R961R|SYNGAP1_ENST00000293748.5_Silent_p.R1020R|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	1020					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TCACCCGTCGGCAGCTTTCAC	0.627000													6	528					0	0	1	0	0
AREL1	9870	broad.mit.edu	37	14	75142487	75142487	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr14:75142487T>C	ENST00000356357.4	-	8	1510	c.995A>G	c.(994-996)gAg>gGg	p.E332G	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		TTCATCTTCCTCGTCAACAGC	0.527000													4	603					0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129854431	129854431	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr10:129854431T>A	ENST00000254667.3	+	7	744	c.465T>A	c.(463-465)aaT>aaA	p.N155K	PTPRE_ENST00000306042.5_Missense_Mutation_p.N97K|PTPRE_ENST00000471218.1_3'UTR|PTPRE_ENST00000419012.2_Missense_Mutation_p.N155K|PTPRE_ENST00000430713.2_Intron	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	155	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				AACTGGCAAATAAAGAAGAAA	0.358000													7	169					0	0	1	0	0
INTS12	57117	broad.mit.edu	37	4	106604071	106604071	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr4:106604071C>A	ENST00000451321.2	-	7	1687	c.1208G>T	c.(1207-1209)gGg>gTg	p.G403V	INTS12_ENST00000394735.1_Missense_Mutation_p.G403V|INTS12_ENST00000340139.5_Missense_Mutation_p.G403V	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	403	Ser-rich.				snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		ATTTCCATTCCCACTTAGTTG	0.463000													4	218					0.014758	0.0151269	1	1	0
LPHN3	23284	broad.mit.edu	37	4	62598838	62598838	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr4:62598838C>T	ENST00000512091.1	+	7	1508	c.761C>T	c.(760-762)cCt>cTt	p.P254L	LPHN3_ENST00000506720.1_Missense_Mutation_p.P322L|LPHN3_ENST00000514591.1_Missense_Mutation_p.P254L|LPHN3_ENST00000507164.1_Missense_Mutation_p.P322L|LPHN3_ENST00000508946.1_Missense_Mutation_p.P254L|LPHN3_ENST00000511324.1_Missense_Mutation_p.P322L|LPHN3_ENST00000506700.1_Missense_Mutation_p.P254L|LPHN3_ENST00000545650.1_Missense_Mutation_p.P254L|LPHN3_ENST00000508693.1_Missense_Mutation_p.P322L|LPHN3_ENST00000514996.1_Missense_Mutation_p.P254L|LPHN3_ENST00000504896.1_Missense_Mutation_p.P254L|LPHN3_ENST00000507625.1_Missense_Mutation_p.P322L|LPHN3_ENST00000506746.1_Missense_Mutation_p.P322L|LPHN3_ENST00000514157.1_Missense_Mutation_p.P254L|LPHN3_ENST00000509896.1_Missense_Mutation_p.P322L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	254	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GATACCTCCCCTTACCGATGG	0.423000													5	74					0	0	1	0	0
AMOTL2	51421	broad.mit.edu	37	3	134079050	134079050	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:134079050C>T	ENST00000514516.1	-	7	2133	c.1955G>A	c.(1954-1956)cGt>cAt	p.R652H	AMOTL2_ENST00000249883.5_Missense_Mutation_p.R594H|AMOTL2_ENST00000422605.2_Missense_Mutation_p.R594H|AMOTL2_ENST00000513145.1_Missense_Mutation_p.R592H	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	594										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						AGTGGTGTCACGCTGAGCAGC	0.602000													6	20					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36870120	36870120	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr20:36870120T>C	ENST00000279024.4	-	3	684	c.413A>G	c.(412-414)gAg>gGg	p.E138G		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	138										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GTAGGCTGGCTCTGGAACAGG	0.512000													6	330					0	0	1	0	0
FAM217A	222826	broad.mit.edu	37	6	4070052	4070052	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr6:4070052C>A	ENST00000274673.3	-	7	808	c.405G>T	c.(403-405)aaG>aaT	p.K135N	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN	family with sequence similarity 217, member A	135																	GACCAACTTGCTTATCAACTG	0.393000													15	117					3.32936e-07	3.7004e-07	1	1	0
SLC7A14	57709	broad.mit.edu	37	3	170198185	170198185	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:170198185G>T	ENST00000231706.4	-	7	2201	c.1886C>A	c.(1885-1887)gCc>gAc	p.A629D	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	629						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GAGGCAAGGGGCCATGTAGGG	0.557000													25	506					2.48779e-11	2.80733e-11	1	1	0
MIS18BP1	55320	broad.mit.edu	37	14	45693666	45693666	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr14:45693666A>T	ENST00000310806.4	-	11	2582	c.2124T>A	c.(2122-2124)agT>agA	p.S708R		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	708					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CCTTGTTTTTACTTTTATGAC	0.348000													4	59					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198265658	198265658	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:198265658T>A	ENST00000335508.5	-	18	2590	c.2499A>T	c.(2497-2499)ttA>ttT	p.L833F		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	833					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TAGTATCAACTAACTAAAAAG	0.328000			Mis		myelodysplastic syndrome								4	45					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18847883	18847883	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:18847883A>T	ENST00000266505.7	-	12	1685	c.1422T>A	c.(1420-1422)agT>agA	p.S474R	PLCZ1_ENST00000447925.2_Missense_Mutation_p.S472R|PLCZ1_ENST00000435379.1_Missense_Mutation_p.S279R|PLCZ1_ENST00000534932.1_5'UTR|PLCZ1_ENST00000539875.1_Missense_Mutation_p.S281R|PLCZ1_ENST00000541695.1_Missense_Mutation_p.S337R|PLCZ1_ENST00000538330.1_Missense_Mutation_p.S256R			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	474	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CTTTTATGTTACTTGGGTTAA	0.289000													4	126					0	0	1	0	0
PITRM1	10531	broad.mit.edu	37	10	3181131	3181131	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr10:3181131G>T	ENST00000380989.2	-	25	2923	c.2885C>A	c.(2884-2886)tCa>tAa	p.S962*	PITRM1_ENST00000451104.2_Nonsense_Mutation_p.S863*|PITRM1_ENST00000224949.4_Nonsense_Mutation_p.S961*|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000380994.1_Nonsense_Mutation_p.S519*	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	863					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						ATCTACGGTTGAGAAGACAGA	0.463000													35	412					4.65686e-17	5.36995e-17	1	1	0
STRBP	55342	broad.mit.edu	37	9	125936121	125936121	+	Splice_Site	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr9:125936121C>A	ENST00000447404.2	-	4	529	c.224_splice	c.e4-1	p.K75_splice	STRBP_ENST00000360998.3_Splice_Site_p.K61_splice|STRBP_ENST00000348403.5_Splice_Site_p.K75_splice			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	75					multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						CACCTTGATCCCTAAAAATAA	0.388000													63	52					2.84776e-26	3.34657e-26	1	1	0
OR2L8	391190	broad.mit.edu	37	1	248112339	248112339	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:248112339C>G	ENST00000357191.3	+	1	180	c.180C>G	c.(178-180)ttC>ttG	p.F60L	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCATGTATTTCCTACTGAGTC	0.413000													782	1210					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85731357	85731357	+	Silent	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr4:85731357C>G	ENST00000322366.6	-	14	2435	c.2028G>C	c.(2026-2028)gtG>gtC	p.V676V	WDFY3_ENST00000295888.4_Silent_p.V676V|WDFY3-AS1_ENST00000510449.1_RNA			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	676						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GATTCTGGTTCACTTTCTCCC	0.438000													47	101					0	0	1	0	0
ZFX	7543	broad.mit.edu	37	X	24225441	24225441	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chrX:24225441A>T	ENST00000379177.1	+	7	1073		c.e7-1		ZFX_ENST00000338565.3_Intron|ZFX_ENST00000304543.5_Splice_Site|ZFX_ENST00000459724.1_Splice_Site|ZFX_ENST00000540034.1_Splice_Site|ZFX_ENST00000539115.1_Splice_Site|ZFX_ENST00000379188.3_Splice_Site	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CTTCCTTTTTAGTGGATGATG	0.338000													5	183					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62299952	62299952	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:62299952G>T	ENST00000378024.4	-	5	2211	c.1937C>A	c.(1936-1938)cCa>cAa	p.P646Q	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	646					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGAACATCTGGACCTTCCCC	0.517000													4	184					0.00024832	0.000265594	1	1	0
NR6A1	2649	broad.mit.edu	37	9	127289057	127289057	+	Splice_Site	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr9:127289057C>T	ENST00000487099.2	-	8	1359		c.e8+1		NR6A1_ENST00000373584.3_Splice_Site|NR6A1_ENST00000344523.4_Splice_Site|NR6A1_ENST00000416460.2_Splice_Site	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1						cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						CAGCCACTCACCTTGATTTAG	0.512000													6	301					0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043911	56043911	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:56043911C>A	ENST00000313033.2	+	1	883	c.797C>A	c.(796-798)aCa>aAa	p.T266K		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TATCATGGGACAATCCTCTTC	0.428000													9	665					4.68919e-08	5.24337e-08	1	1	0
ANGPTL1	9068	broad.mit.edu	37	1	178834359	178834359	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:178834359G>T	ENST00000234816.2	-	3	1000	c.553C>A	c.(553-555)Ctt>Att	p.L185I	RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000324778.4_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.L185I	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	185						extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TTATTGACAAGATCAGTCAAG	0.433000													41	312					6.19805e-25	7.26057e-25	1	1	0
PAK2	5062	broad.mit.edu	37	3	196541320	196541320	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:196541320A>T	ENST00000327134.3	+	11	1257		c.e11-1			NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2						axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		TTGTATTTTTAGTTACCTGGT	0.363000													8	325					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324072	152324072	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:152324072A>T	ENST00000388718.5	-	3	6262	c.6190T>A	c.(6190-6192)Tca>Aca	p.S2064T	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2064							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCATGAACTGAGGATCCTGAC	0.527000													10	2498					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108147577	108147577	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:108147577A>T	ENST00000273353.3	-	28	3580	c.3524T>A	c.(3523-3525)aTa>aAa	p.I1175K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1175						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTTCTTAGTTATTTCCAGCTG	0.493000													5	251					0	0	1	0	0
RWDD4	201965	broad.mit.edu	37	4	184570668	184570668	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr4:184570668A>T	ENST00000326397.5	-	5	689	c.417T>A	c.(415-417)agT>agA	p.S139R	RWDD4_ENST00000512740.1_Missense_Mutation_p.S76R|RWDD4_ENST00000327570.9_Missense_Mutation_p.S139R|RWDD4_ENST00000510968.1_Missense_Mutation_p.S44R	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN	RWD domain containing 4	139										large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						CTTTTTTCTTACTTGATGGGG	0.328000													5	204					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107329537	107329537	+	Silent	SNP	G	G	A	rs140778437		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:107329537G>A	ENST00000265715.3	+	9	1265	c.1041G>A	c.(1039-1041)tcG>tcA	p.S347S		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	347					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	p.S347S(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GCTTGTTCTCGGAGATGCTGG	0.438000									Pendred syndrome				56	319					0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123848361	123848361	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:123848361G>T	ENST00000531945.1	-	1	127	c.38C>A	c.(37-39)aCa>aAa	p.T13K		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTTCTCCGTTGTCATGGTCAT	0.478000													28	1022					5.26018e-13	5.99076e-13	1	1	0
CTSE	1510	broad.mit.edu	37	1	206325277	206325277	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:206325277A>T	ENST00000361052.3	+	5	635	c.517A>T	c.(517-519)Agt>Tgt	p.S173C	CTSE_ENST00000468617.1_3'UTR|CTSE_ENST00000360218.2_Missense_Mutation_p.S168C|CTSE_ENST00000358184.2_Missense_Mutation_p.S168C|CTSE_ENST00000432969.2_Missense_Mutation_p.S93C			P14091	CATE_HUMAN	cathepsin E	173					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GTTTGGAGAAAGTGTCACAGA	0.547000													54	391					0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150476838	150476838	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:150476838G>A	ENST00000369064.3	+	14	1679	c.1645G>A	c.(1645-1647)Ggc>Agc	p.G549S	TARS2_ENST00000369054.2_Missense_Mutation_p.G419S|TARS2_ENST00000606933.1_Missense_Mutation_p.G467S|TARS2_ENST00000463555.1_3'UTR	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	549					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CGATGCCCTGGGCCGGCCACA	0.502000													34	243					0	0	1	0	0
ZNF253	56242	broad.mit.edu	37	19	20002281	20002281	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:20002281A>T	ENST00000589717.1	+	4	318		c.e4-1		ZNF253_ENST00000355650.4_Splice_Site	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253						negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGTTTCTTTTAGTTATGAGTT	0.313000													3	26					0	0	1	0	0
SMC5	23137	broad.mit.edu	37	9	72912910	72912910	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr9:72912910T>A	ENST00000361138.5	+	9	1140	c.1082T>A	c.(1081-1083)gTa>gAa	p.V361E		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	361					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GCTTTAATAGTAAAGCAAAAT	0.363000													6	161					0	0	1	0	0
ZNF577	84765	broad.mit.edu	37	19	52381753	52381753	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:52381753C>A	ENST00000420592.1	-	4	1409	c.76G>T	c.(76-78)Gaa>Taa	p.E26*	ZNF577_ENST00000301399.5_Nonsense_Mutation_p.E26*|ZNF577_ENST00000485702.1_5'UTR|ZNF577_ENST00000451628.2_Nonsense_Mutation_p.E26*|ZNF577_ENST00000412216.1_Nonsense_Mutation_p.E26*			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCCACATCTTCGAATGACAAT	0.453000													22	675					1.7367e-05	1.89039e-05	1	1	0
ZNF789	285989	broad.mit.edu	37	7	99085048	99085048	+	Silent	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:99085048T>C	ENST00000331410.5	+	5	1485	c.1215T>C	c.(1213-1215)tcT>tcC	p.S405S	ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GTGGAAAATCTTTCAAGTGGC	0.403000													4	352					0	0	1	0	0
LST3	0	broad.mit.edu	37	12	21196392	21196392	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:21196392T>A	ENST00000381541.3	+	7	917	c.852T>A	c.(850-852)aaT>aaA	p.N284K	LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.N237K|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.N284K|SLCO1B3_ENST00000553473.1_Intron																							TAAATCCAAATAAACCACAGA	0.343000													6	87					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108147573	108147573	+	Silent	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:108147573A>T	ENST00000273353.3	-	28	3584	c.3528T>A	c.(3526-3528)acT>acA	p.T1176T		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1176						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCTGTTTCTTAGTTATTTCCA	0.493000													12	243					0	0	1	0	0
EPYC	1833	broad.mit.edu	37	12	91366748	91366748	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:91366748G>C	ENST00000261172.3	-	4	442	c.350C>G	c.(349-351)aCc>aGc	p.T117S		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	117	LRRNT.				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						CAAAAGACAGGTTGGAAAGTC	0.343000													47	96					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32541877	32541877	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr9:32541877A>T	ENST00000360538.2	-	3	2762	c.2646T>A	c.(2644-2646)caT>caA	p.H882Q	TOPORS_ENST00000379858.1_Missense_Mutation_p.H817Q	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	882	Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ttttctttttATGGTGTTTAG	0.373000													7	197					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													4	23					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118635189	118635189	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr6:118635189A>T	ENST00000360388.4	+	8	1203		c.e8-1			NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1						transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GTGTTTTTTTAGTTTTCAGGA	0.473000													9	105					0	0	1	0	0
ZADH2	284273	broad.mit.edu	37	18	72914297	72914297	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr18:72914297T>A	ENST00000322342.3	-	2	499		c.e2-2		ZADH2_ENST00000537114.2_Splice_Site	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2							peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		CCAACAAATCTAAAAGAAAAC	0.428000													8	250					0	0	1	0	0
ANGPTL7	10218	broad.mit.edu	37	1	11249984	11249984	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:11249984delA	ENST00000376819.3	+	1	587	c.348delA	c.(346-348)gcfs	p.A117fs	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	117					response to oxidative stress|signal transduction	extracellular region	receptor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		AGCTGCAGGCAGCACAGACGG	0.562													36	172	---	---	---	---					
VPS13D	55187	broad.mit.edu	37	1	12422832	12422833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:12422832_12422833insC	ENST00000358136.3	+	51	10328_10329	c.10198_10199insC	c.(10198-10200)cccfs	p.P3400fs	VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.P3375fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3399					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)		GGTCATCTTTGCCCCCCGTTAC	0.426													8	458	---	---	---	---					
PRAMEF26	645359	broad.mit.edu	37	1	13219469	13219470	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:13219469_13219470insT	ENST00000423177.1	-	1	111_112	c.112_113insA	c.(112-114)cagfs	p.Q38fs																	breast(1)|lung(1)	2						TCCTGCACTGGTTTTTTGTTCC	0.505													7	1754	---	---	---	---					
SPEN	23013	broad.mit.edu	37	1	16259479	16259480	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:16259479_16259480insC	ENST00000375759.3	+	11	6948_6949	c.6744_6745insC	c.(6742-6747)caccccfs	p.HP2248fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2248	Interaction with MSX2 (By similarity).|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.A2251fs*102(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAGATCTGCAACCCCCCGCAGG	0.554													7	446	---	---	---	---					
IGSF21	84966	broad.mit.edu	37	1	18554419	18554420	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:18554419_18554420insC	ENST00000251296.1	+	2	481_482	c.98_99insC	c.(97-99)cccfs	p.P33fs		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	33	Ig-like 1.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		ATTGAGCCTCTCCCCCCTGTGG	0.574													7	387	---	---	---	---					
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:22838561_22838563delAAG	ENST00000404138.1	+	12	2906_2908	c.2395_2397delAAG	c.(2395-2397)del	p.K803del	ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	803					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517													12	357	---	---	---	---					
LUZP1	7798	broad.mit.edu	37	1	23417944	23417945	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:23417944_23417945insG	ENST00000302291.4	-	4	3611_3612	c.2810_2811insC	c.(2809-2811)cacfs	p.H937fs	LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.H937fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	937						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTATTCGAGTTGGGGGGTCTTC	0.495													14	804	---	---	---	---					
C1orf63	57035	broad.mit.edu	37	1	25573155	25573160	+	In_Frame_Del	DEL	GAACCC	GAACCC	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:25573155_25573160delGAACCC	ENST00000243189.7	-	2	571_576	c.295_300delGGGTTC	c.(295-300)del	p.GF99del	C1orf63_ENST00000431849.2_In_Frame_Del_p.GF99del|C1orf63_ENST00000417642.2_In_Frame_Del_p.GF92del	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63	99	Arg-rich.									breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATCTCCTGGTGAACCCGTAGCGCCTC	0.670													11	71	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5539-5544)ggggggfs	p.GG1847fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.G1848fs*6(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								7	324	---	---	---	---					
AGO4	192670	broad.mit.edu	37	1	36306816	36306817	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:36306816_36306817insC	ENST00000373210.3	+	14	2020_2021	c.1775_1776insC	c.(1774-1776)cccfs	p.P592fs		NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		GATGTCACACACCCCCCAGCAG	0.554													7	474	---	---	---	---					
CSF3R	1441	broad.mit.edu	37	1	36935322	36935323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:36935322_36935323insG	ENST00000373103.1	-	11	1951_1952	c.1404_1405insC	c.(1402-1407)ccgcgcfs	p.R469fs	CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373106.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.R469fs	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	469	Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGCTCGCGCTGGGGGGGCCCA	0.634													19	478	---	---	---	---					
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:42898878_42898879insG	ENST00000372565.3	-	7	1179_1180	c.910_911insC	c.(910-912)aaafs	p.K304fs	ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	304						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATGGTTTTTTGGGGGGCTTTG	0.411													9	525	---	---	---	---					
LEPRE1	64175	broad.mit.edu	37	1	43223458	43223459	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:43223458_43223459insG	ENST00000236040.4	-	5	1115_1116	c.1075_1076insC	c.(1075-1077)tgafs	p.*359fs	LEPRE1_ENST00000296388.5_Frame_Shift_Ins_p.*359fs|LEPRE1_ENST00000397054.3_Frame_Shift_Ins_p.*359fs	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	359					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	p.R359S(2)		large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCTCACCTCACGGGGGCCGATG	0.535											OREG0013423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	1205	---	---	---	---					
IPP	3652	broad.mit.edu	37	1	46180107	46180115	+	In_Frame_Del	DEL	ATTGCTGAT	ATTGCTGAT	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:46180107_46180115delATTGCTGAT	ENST00000396478.3	-	8	1435_1443	c.1333_1341delATCAGCAAT	c.(1333-1341)del	p.ISN445del		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	445						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					CTATTCCTTCATTGCTGATGCCCCCAATT	0.388													18	52	---	---	---	---					
ELAVL4	1996	broad.mit.edu	37	1	50666498	50666499	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:50666498_50666499insC	ENST00000371821.1	+	7	1121_1122	c.806_807insC	c.(805-807)gccfs	p.A269fs	ELAVL4_ENST00000371819.1_Intron|ELAVL4_ENST00000371823.4_Frame_Shift_Ins_p.A264fs|ELAVL4_ENST00000448907.2_Intron|ELAVL4_ENST00000371827.1_Intron|ELAVL4_ENST00000357083.4_Intron|ELAVL4_ENST00000371824.1_Intron			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	264					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TCTGGACCAGTCCCCCCTTCTG	0.530													8	656	---	---	---	---					
LRP8	7804	broad.mit.edu	37	1	53728210	53728211	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:53728210_53728211insC	ENST00000306052.6	-	11	1782_1783	c.1681_1682insG	c.(1681-1683)ccafs	p.P561fs	LRP8_ENST00000371454.2_Frame_Shift_Ins_p.P561fs|LRP8_ENST00000354412.3_Frame_Shift_Ins_p.P432fs|LRP8_ENST00000347547.2_Frame_Shift_Ins_p.P391fs|LRP8_ENST00000465675.1_Frame_Shift_Ins_p.P114fs	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	561					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CTTGGCCTGGTCCCCCCAGTCA	0.515													9	860	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)ccctatfs	p.Y118fs	FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594													32	473	---	---	---	---					
PARS2	25973	broad.mit.edu	37	1	55223704	55223705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:55223704_55223705insG	ENST00000371279.3	-	2	1212_1213	c.1130_1131insC	c.(1129-1131)caafs	p.Q377fs		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	377					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	TGCCCTTCTTAGGGGGGATGAG	0.609													10	299	---	---	---	---					
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779	by1000genomes	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:59812016_59812017insG	ENST00000371218.4	+	4	595_596	c.411_412insG	c.(409-414)gtggggfs	p.VG137fs	FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000474476.1_3'UTR	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	137					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.500													8	216	---	---	---	---					
C1orf173	127254	broad.mit.edu	37	1	75038815	75038815	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:75038815delC	ENST00000326665.5	-	14	2797	c.2579delG	c.(2578-2580)gafs	p.G860fs	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	860	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGCTGCTTGTCCTATGGGGTC	0.537													7	593	---	---	---	---					
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:89613321_89613322insC	ENST00000294671.2	-	8	1431_1432	c.1293_1294insG	c.(1291-1296)ggacaafs	p.Q432fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	432						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436													11	201	---	---	---	---					
SLC16A1	6566	broad.mit.edu	37	1	113471889	113471890	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:113471889_113471890insG	ENST00000538576.1	-	2	872_873	c.41_42insC	c.(40-42)cgafs	p.R14fs	SLC16A1_ENST00000478835.1_5'UTR|SLC16A1_ENST00000369626.3_Frame_Shift_Ins_p.R14fs|SLC16A1_ENST00000433570.4_Frame_Shift_Ins_p.R14fs	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	14					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	AGCCTCCATCTGGGGGGGTGTA	0.426													7	112	---	---	---	---					
HIPK1	204851	broad.mit.edu	37	1	114515697	114515698	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:114515697_114515698insC	ENST00000369558.1	+	16	3428_3429	c.3196_3197insC	c.(3196-3198)cccfs	p.P1066fs	HIPK1_ENST00000369554.2_Frame_Shift_Ins_p.P1021fs|HIPK1_ENST00000369555.2_Frame_Shift_Ins_p.P1021fs|HIPK1_ENST00000340480.4_Frame_Shift_Ins_p.P692fs|HIPK1_ENST00000426820.2_Frame_Shift_Ins_p.P1066fs|HIPK1_ENST00000406344.1_Frame_Shift_Ins_p.P672fs|HIPK1_ENST00000369553.1_Frame_Shift_Ins_p.P672fs|HIPK1_ENST00000369561.4_Frame_Shift_Ins_p.P1032fs			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1066	Interaction with TP53.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGCAACCCAGCCCCCCGCAGG	0.614													13	618	---	---	---	---					
OLFML3	56944	broad.mit.edu	37	1	114523958	114523959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:114523958_114523959insC	ENST00000369551.1	+	4	1016_1017	c.728_729insC	c.(727-729)accfs	p.T243fs	OLFML3_ENST00000320334.4_Frame_Shift_Ins_p.T263fs|OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.T243fs|OLFML3_ENST00000491700.1_3'UTR			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	263	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGGGCTGATCCCCCCCTACG	0.559													10	275	---	---	---	---					
SPAG17	200162	broad.mit.edu	37	1	118584454	118584455	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:118584454_118584455insG	ENST00000336338.5	-	21	3090_3091	c.3025_3026insC	c.(3025-3027)ccafs	p.P1009fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1009						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTCTGGTTGGTGGGGGGACTCT	0.371													8	576	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1254)tccfs	p.S418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAGGTTTGCCCCCCGCCAG	0.500													34	1517	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145584232	145584233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:145584232_145584233insC	ENST00000393045.2	+	11	1473_1474	c.1383_1384insC	c.(1381-1386)ctccccfs	p.LP461fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.LP426fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	461					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGGAGGATCTGCCCCCTACCAA	0.500													7	855	---	---	---	---					
BCL9	607	broad.mit.edu	37	1	147092680	147092681	+	Frame_Shift_Ins	INS	-	-	C	rs35292683		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:147092680_147092681insC	ENST00000234739.3	+	8	3459_3460	c.2719_2720insC	c.(2719-2721)cccfs	p.P907fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	907	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TTCCATTAAGTCCCCCCCTGTT	0.619			T	"""IGH@, IGL@"""	B-ALL								11	293	---	---	---	---					
C1orf51	148523	broad.mit.edu	37	1	150259011	150259012	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:150259011_150259012insC	ENST00000290363.5	+	5	1252_1253	c.803_804insC	c.(802-804)accfs	p.T268fs	C1orf51_ENST00000369094.1_Frame_Shift_Ins_p.T180fs|C1orf51_ENST00000369095.1_Frame_Shift_Ins_p.T268fs	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	268										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAATTTGCAACCCCCCTCTCA	0.520													7	897	---	---	---	---					
RPRD2	23248	broad.mit.edu	37	1	150445611	150445612	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:150445611_150445612insC	ENST00000401000.4	+	10	4174_4175	c.4109_4110insC	c.(4108-4110)gccfs	p.A1370fs	RPRD2_ENST00000369068.4_Frame_Shift_Ins_p.A1396fs|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1396	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGCAGCAGTGGCCCCCCCTTGG	0.614													12	164	---	---	---	---					
TARS2	80222	broad.mit.edu	37	1	150477198	150477199	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:150477198_150477199insG	ENST00000369064.3	+	15	1843_1844	c.1809_1810insG	c.(1807-1812)tgggggfs	p.WG603fs	TARS2_ENST00000369054.2_Frame_Shift_Ins_p.WG473fs|TARS2_ENST00000606933.1_Frame_Shift_Ins_p.WG521fs	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	603					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	p.C603C(2)|p.G604W(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CAGAAAGCTGCGGGGGGAAATG	0.569													8	810	---	---	---	---					
ECM1	1893	broad.mit.edu	37	1	150482150	150482151	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:150482150_150482151insC	ENST00000369047.4	+	3	260_261	c.135_136insC	c.(133-138)gcccccfs	p.AP45fs	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Frame_Shift_Ins_p.AP45fs|ECM1_ENST00000369049.4_Frame_Shift_Ins_p.AP45fs	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	45					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCTACGCAGCTCCCCCCTCCCC	0.584													7	740	---	---	---	---					
SETDB1	9869	broad.mit.edu	37	1	150933381	150933382	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:150933381_150933382insC	ENST00000271640.5	+	16	3033_3034	c.2843_2844insC	c.(2842-2844)cccfs	p.P948fs	SETDB1_ENST00000368969.4_Frame_Shift_Ins_p.P948fs	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	948	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AAGGACTCCCACCCCCCAGATC	0.574													7	778	---	---	---	---					
FLG	2312	broad.mit.edu	37	1	152276875	152276875	+	Frame_Shift_Del	DEL	C	C	-	rs116505293	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:152276875delC	ENST00000368799.1	-	3	10522	c.10487delG	c.(10486-10488)gafs	p.G3496fs	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3496	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGCCATCTCCTGATTGTTC	0.582									Ichthyosis				33	806	---	---	---	---					
LCE1B	353132	broad.mit.edu	37	1	152785008	152785009	+	Frame_Shift_Ins	INS	-	-	C	rs151038984		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:152785008_152785009insC	ENST00000360090.3	+	1	562_563	c.86_87insC	c.(85-87)tccfs	p.S29fs		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	29	Pro-rich.				keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCCCTAGATGCCCCCCAAAGT	0.629													8	348	---	---	---	---					
CRTC2	200186	broad.mit.edu	37	1	153924672	153924673	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:153924672_153924673insC	ENST00000368633.1	-	10	945_946	c.818_819insG	c.(817-819)gtcfs	p.V273fs	CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	273					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGGTAGGGAGCCCCCCGTGTT	0.574													8	444	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154246356	154246357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:154246356_154246357insG	ENST00000328703.7	+	3	636_637	c.423_424insG	c.(421-426)ttggggfs	p.LG141fs	HAX1_ENST00000483970.2_Frame_Shift_Ins_p.LG149fs|HAX1_ENST00000532105.1_Frame_Shift_Ins_p.LG13fs|HAX1_ENST00000457918.2_Frame_Shift_Ins_p.LG93fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	141	Involved in HCLS1 binding.		F -> L (in SCN3; mild form).			actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGGATCTTTGGGGGGGTCTT	0.554									Kostmann syndrome				18	367	---	---	---	---					
DCST2	127579	broad.mit.edu	37	1	155006136	155006137	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:155006136_155006137insC	ENST00000368424.3	-	1	99_100	c.41_42insG	c.(40-42)ggafs	p.G14fs	DCST2_ENST00000295536.5_Frame_Shift_Ins_p.G14fs	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	14						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TAGGCTCCTCTCCCCCCAAGGG	0.589													8	306	---	---	---	---					
RUSC1	23623	broad.mit.edu	37	1	155297993	155297994	+	Frame_Shift_Ins	INS	-	-	G	rs149617084		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:155297993_155297994insG	ENST00000368352.5	+	9	2618_2619	c.2467_2468insG	c.(2467-2469)gggfs	p.G823fs	RUSC1_ENST00000368349.4_Frame_Shift_Ins_p.G354fs|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000292254.4_Frame_Shift_Ins_p.G354fs|RUSC1_ENST00000368347.4_Frame_Shift_Ins_p.G413fs|RUSC1_ENST00000368354.3_Frame_Shift_Ins_p.G717fs	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	823						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TCTTGTGAAGCGGGGGGCACCT	0.564													11	836	---	---	---	---					
ASH1L	55870	broad.mit.edu	37	1	155491185	155491186	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:155491185_155491186insT	ENST00000368346.3	-	2	764_765	c.125_126insA	c.(124-126)aacfs	p.N42fs	ASH1L_ENST00000548830.1_Frame_Shift_Ins_p.N42fs|ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.N42fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	42					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCTCCTTTGTGTTTTTTTCTAG	0.431													8	1540	---	---	---	---					
GON4L	54856	broad.mit.edu	37	1	155734980	155734981	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:155734980_155734981insG	ENST00000437809.1	-	21	4405_4406	c.4283_4284insC	c.(4282-4284)cggfs	p.R1428fs	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Frame_Shift_Ins_p.R1428fs|GON4L_ENST00000368331.1_Frame_Shift_Ins_p.R1428fs|GON4L_ENST00000361040.5_Frame_Shift_Ins_p.R1428fs			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1428					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTGGCTTCCCTGGGGGGCTACT	0.515													7	693	---	---	---	---					
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:156708444_156708445insG	ENST00000361531.2	-	2	188_189	c.52_53insC	c.(52-54)ttafs	p.L18fs	MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.L18fs			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	18					translation	mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATAGCGGTAATGGGGGGGCAGA	0.574													22	572	---	---	---	---					
ARHGEF11	9826	broad.mit.edu	37	1	156918292	156918293	+	Splice_Site	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:156918292_156918293insG	ENST00000368194.3	-	23	2965		c.e23-2		ARHGEF11_ENST00000315174.8_Splice_Site|ARHGEF11_ENST00000361409.2_Splice_Site	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11						actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGCGTGAACTGGGGGGAAGGG	0.569													7	266	---	---	---	---					
OR10Z1	128368	broad.mit.edu	37	1	158577072	158577073	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:158577072_158577073insC	ENST00000361284.1	+	1	844_845	c.844_845insC	c.(844-846)cccfs	p.P282fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TACTGTAGTGACCCCCCTCCTT	0.460													11	1262	---	---	---	---					
SLAMF9	89886	broad.mit.edu	37	1	159922195	159922196	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:159922195_159922196insC	ENST00000368093.3	-	3	636_637	c.520_521insG	c.(520-522)tagfs	p.*174fs	SLAMF9_ENST00000368092.3_Intron|SLAMF9_ENST00000466773.1_5'UTR	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	174	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATAAGTGCTATCCCCCCGGGAG	0.579													11	807	---	---	---	---					
IGSF8	93185	broad.mit.edu	37	1	160063924	160063925	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:160063924_160063925insG	ENST00000368086.1	-	3	695_696	c.479_480insC	c.(478-480)cggfs	p.R160fs	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Frame_Shift_Ins_p.R160fs			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	160					cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTCGGGGCCCTGGGGGGGCAGC	0.653													12	125	---	---	---	---					
B4GALT3	8703	broad.mit.edu	37	1	161145761	161145762	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:161145761_161145762insC	ENST00000319769.5	-	3	311_312	c.89_90insG	c.(88-90)gttfs	p.V30fs	PPOX_ENST00000495483.1_Intron|PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000367998.1_Frame_Shift_Ins_p.V30fs|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000432542.2_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	30					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	GACTTCGGAAGCCCCCCAGTGA	0.599													7	711	---	---	---	---					
ADAMTS4	9507	broad.mit.edu	37	1	161167945	161167946	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:161167945_161167946insC	ENST00000367996.4	-	1	900_901	c.472_473insG	c.(472-474)tgafs	p.*158fs	ADAMTS4_ENST00000367995.3_Frame_Shift_Ins_p.*158fs	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	158					proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	p.A158fs*2(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTGGAGTTCAGCCCCCCGATAT	0.624													7	280	---	---	---	---					
RCSD1	92241	broad.mit.edu	37	1	167654710	167654711	+	Frame_Shift_Ins	INS	-	-	C	rs144007158	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:167654710_167654711insC	ENST00000367854.3	+	3	492_493	c.161_162insC	c.(160-162)tccfs	p.S54fs	RCSD1_ENST00000537350.1_Intron	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	54										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CTCCCCCTGTTCCCCCCCAAGG	0.554													11	280	---	---	---	---					
ADCY10	55811	broad.mit.edu	37	1	167865905	167865906	+	Frame_Shift_Ins	INS	-	-	G	rs35604923		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:167865905_167865906insG	ENST00000367848.1	-	7	887_888	c.390_391insC	c.(388-393)ccatttfs	p.F131fs	ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.F70fs|ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.F223fs			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	223	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAATTAAAATTGGGGGGTGGTT	0.332													13	661	---	---	---	---					
TNN	63923	broad.mit.edu	37	1	175096158	175096159	+	Frame_Shift_Ins	INS	-	-	C	rs59588723	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:175096158_175096159insC	ENST00000239462.4	+	13	3095_3096	c.2982_2983insC	c.(2980-2985)acccccfs	p.TP994fs		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	994	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGACCTGGACGCCCCCCTCTGC	0.505													9	684	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176762723	176762724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:176762723_176762724insC	ENST00000367662.3	+	20	6212_6213	c.5048_5049insC	c.(5047-5049)accfs	p.T1683fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1683	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGTGTGTAATCCCCCCCAGTG	0.470													41	686	---	---	---	---					
CACNA1E	777	broad.mit.edu	37	1	181549749	181549750	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:181549749_181549750insC	ENST00000526775.1	+	6	953_954	c.788_789insC	c.(787-789)gccfs	p.A263fs	CACNA1E_ENST00000367573.2_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000357570.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000360108.3_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000358338.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000367570.1_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000367567.4_5'UTR	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	263					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAAGGATTTGACCCCCCTCACC	0.505													8	2193	---	---	---	---					
RGL1	23179	broad.mit.edu	37	1	183854005	183854006	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:183854005_183854006insG	ENST00000304685.3	+	8	1450_1451	c.989_990insG	c.(988-990)cggfs	p.R330fs	RGL1_ENST00000360851.3_Frame_Shift_Ins_p.R295fs|RGL1_ENST00000367531.1_Frame_Shift_Ins_p.R330fs|RGL1_ENST00000539189.1_Frame_Shift_Ins_p.R295fs|RGL1_ENST00000536277.1_Frame_Shift_Ins_p.R293fs	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	295	Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						AGCACCATCCTGGGGGGCAAAG	0.416													8	249	---	---	---	---					
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:201046125_201046126insC	ENST00000362061.3	-	12	1975_1976	c.1749_1750insG	c.(1747-1752)ggggtafs	p.V584fs	CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	584					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGTCATACCTCCCCCCAAAGA	0.574													18	872	---	---	---	---					
NAV1	89796	broad.mit.edu	37	1	201779175	201779176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:201779175_201779176insC	ENST00000367296.4	+	23	4923_4924	c.4503_4504insC	c.(4501-4506)gaccccfs	p.DP1501fs	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1501					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGATGCAGAGCCCCCCGAGAT	0.525													10	545	---	---	---	---					
FMOD	2331	broad.mit.edu	37	1	203316599	203316600	+	Frame_Shift_Ins	INS	-	-	C	rs139730140	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:203316599_203316600insC	ENST00000354955.4	-	2	1262_1263	c.799_800insG	c.(799-801)gccfs	p.A267fs	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	267					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CAGCTTGGGCGCCCCCCGGAAG	0.579													14	628	---	---	---	---					
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-255)accfs	p.T85fs	ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAAA	0.480													15	418	---	---	---	---					
GOLT1A	127845	broad.mit.edu	37	1	204170835	204170836	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:204170835_204170836insC	ENST00000308302.3	-	3	406_407	c.221_222insG	c.(220-222)ggtfs	p.G74fs		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	74					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CGATAACCACACCCCCCAGGAG	0.545													15	931	---	---	---	---					
PIK3C2B	5287	broad.mit.edu	37	1	204438071	204438072	+	Frame_Shift_Ins	INS	-	-	G	rs115574296	by1000genomes	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:204438071_204438072insG	ENST00000367187.3	-	3	1415_1416	c.859_860insC	c.(859-861)cacfs	p.H287fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.H287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	287	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.R287fs*92(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCATAGGTGCGGGGGGGCACC	0.624													36	465	---	---	---	---					
NFASC	23114	broad.mit.edu	37	1	204924032	204924033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:204924032_204924033insC	ENST00000367172.4	+	7	816_817	c.488_489insC	c.(487-489)accfs	p.T163fs	NFASC_ENST00000404907.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000339876.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000367170.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000513543.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000367171.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000367169.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000338515.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000360049.4_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000403080.1_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000404076.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000338586.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000401399.1_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000539706.1_Frame_Shift_Ins_p.T157fs			O94856	NFASC_HUMAN	neurofascin	163	Ig-like C2-type 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.P159fs*12(1)|p.P165fs*12(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTCCAGTGCAACCCCCCGCCTG	0.559													19	873	---	---	---	---					
CDK18	5129	broad.mit.edu	37	1	205497018	205497019	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:205497018_205497019insG	ENST00000360066.2	+	9	1127_1128	c.826_827insG	c.(826-828)gggfs	p.G276fs	CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Frame_Shift_Ins_p.G306fs|CDK18_ENST00000429964.2_Frame_Shift_Ins_p.G276fs	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	274	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CATCAACGAGAGGGGGGAGCTG	0.639													10	433	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396													38	967	---	---	---	---					
PLXNA2	5362	broad.mit.edu	37	1	208315786	208315787	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:208315786_208315787insG	ENST00000367033.3	-	4	2150_2151	c.1393_1394insC	c.(1393-1395)tggfs	p.W465fs		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	465	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane		p.H465fs*57(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GACCCCACCATGGGGGGGACCG	0.594													20	930	---	---	---	---					
IRF6	3664	broad.mit.edu	37	1	209974763	209974764	+	Splice_Site	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:209974763_209974764insG	ENST00000367021.3	-	3	170		c.e3-2		IRF6_ENST00000542854.1_Intron	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6						cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GGCCATGATCTGGGGGGGTCAG	0.594										HNSCC(57;0.16)			11	254	---	---	---	---					
DIEXF	27042	broad.mit.edu	37	1	210014266	210014267	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:210014266_210014267insC	ENST00000491415.2	+	8	1408_1409	c.1351_1352insC	c.(1351-1353)cccfs	p.P451fs		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	451					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CCTCATTGCTTCCCCCCTGGGC	0.465													7	480	---	---	---	---					
PROX1	5629	broad.mit.edu	37	1	214170285	214170286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:214170285_214170286insC	ENST00000366958.4	+	2	1015_1016	c.407_408insC	c.(406-408)accfs	p.T136fs	PROX1_ENST00000261454.4_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000435016.1_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000498508.2_Frame_Shift_Ins_p.T136fs	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	136					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCAAGAGACAGCCCCCCAGAGT	0.530													11	1212	---	---	---	---					
TRIM17	51127	broad.mit.edu	37	1	228596934	228596935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:228596934_228596935insG	ENST00000366697.2	-	5	1777_1778	c.821_822insC	c.(820-822)cacfs	p.H274fs	TRIM17_ENST00000366698.2_Frame_Shift_Ins_p.H274fs|TRIM17_ENST00000456946.2_Frame_Shift_Ins_p.H274fs|TRIM17_ENST00000295033.3_Frame_Shift_Ins_p.H274fs|RP11-245P10.4_ENST00000436779.1_RNA			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	274					protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TGGGTCTGGTTGGGGGGGCAAC	0.579													7	243	---	---	---	---					
ACTA1	58	broad.mit.edu	37	1	229567546	229567547	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:229567546_229567547insC	ENST00000366684.3	-	6	1013_1014	c.911_912insG	c.(910-912)gacfs	p.D304fs	ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.D216fs	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	304					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	ACATCGTGGTGCCCCCCGACAT	0.589													7	293	---	---	---	---					
ODC1	4953	broad.mit.edu	37	2	10583614	10583615	+	Splice_Site	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:10583614_10583615insC	ENST00000234111.4	-	7	1177		c.e7+1		ODC1_ENST00000405333.1_Splice_Site	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1						polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	ACGTATACTCACCCCCATGTCA	0.460													7	812	---	---	---	---					
GREB1	9687	broad.mit.edu	37	2	11738052	11738053	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:11738052_11738053insC	ENST00000381486.2	+	14	2400_2401	c.2100_2101insC	c.(2098-2103)atccccfs	p.IP700fs	GREB1_ENST00000234142.5_Frame_Shift_Ins_p.IP700fs	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	700						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCATTTGCATTCCCCCCTCAGA	0.520													7	913	---	---	---	---					
KCNS3	3790	broad.mit.edu	37	2	18112337	18112338	+	Frame_Shift_Ins	INS	-	-	G	rs35579067		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:18112337_18112338insG	ENST00000403915.1	+	3	513_514	c.62_63insG	c.(61-63)gggfs	p.G21fs	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Frame_Shift_Ins_p.G21fs			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	21					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCTGAATGTGGGGGGCTTTA	0.535													8	662	---	---	---	---					
DNMT3A	1788	broad.mit.edu	37	2	25523008	25523009	+	Splice_Site	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:25523008_25523009insG	ENST00000264709.3	-	3	513_514	c.177_splice	c.e3+1	p.R59_splice	DNMT3A_ENST00000406659.3_Splice_Site_p.R59_splice|DNMT3A_ENST00000321117.5_Splice_Site_p.R59_splice	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	59					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACACTCACCGGGGGGTGCTT	0.649			"""Mis, F, N, S"""		AML								11	400	---	---	---	---					
ASXL2	55252	broad.mit.edu	37	2	25966872	25966873	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:25966872_25966873insG	ENST00000435504.4	-	13	2626_2627	c.2333_2334insC	c.(2332-2334)cgtfs	p.R778fs	ASXL2_ENST00000336112.4_Frame_Shift_Ins_p.R750fs|ASXL2_ENST00000272341.4_Frame_Shift_Ins_p.R518fs|ASXL2_ENST00000404843.1_Frame_Shift_Ins_p.R518fs			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	778					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGAGGCACTGGGGGGGTTTG	0.554													8	332	---	---	---	---					
AGBL5	60509	broad.mit.edu	37	2	27278900	27278901	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:27278900_27278901insC	ENST00000360131.4	+	7	1418_1419	c.1259_1260insC	c.(1258-1260)accfs	p.T420fs	AGBL5_ENST00000323064.8_Frame_Shift_Ins_p.T420fs	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	420					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGATACCATCCCCCCCAAAG	0.515													13	381	---	---	---	---					
GCKR	2646	broad.mit.edu	37	2	27721130	27721131	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:27721130_27721131insG	ENST00000264717.2	+	4	357_358	c.294_295insG	c.(292-297)gaggggfs	p.EG98fs	GCKR_ENST00000424318.2_5'UTR	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	98	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					AGGAGCCAGATGGGGGGCTGGT	0.530													7	517	---	---	---	---					
C2orf16	84226	broad.mit.edu	37	2	27804287	27804288	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:27804287_27804288insC	ENST00000408964.2	+	1	4899_4900	c.4848_4849insC	c.(4846-4851)agccccfs	p.SP1616fs		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1616	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATCACTGCAGTCCCCCCGAGAG	0.569													9	494	---	---	---	---					
SLC8A1	6546	broad.mit.edu	37	2	40366704	40366705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:40366704_40366705insG	ENST00000406785.1	-	7	2462_2463	c.2273_2274insC	c.(2272-2274)cacfs	p.H758fs	SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000405269.1_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000406391.2_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Ins_p.H789fs|SLC8A1_ENST00000542024.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Frame_Shift_Ins_p.H786fs|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405901.3_Frame_Shift_Ins_p.H789fs|SLC8A1_ENST00000403092.1_Frame_Shift_Ins_p.H794fs|SLC8A1_ENST00000402441.1_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000332839.4_Frame_Shift_Ins_p.H794fs|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	794					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTATTCAGTAGGGGGGACGAA	0.515													10	878	---	---	---	---					
PAPOLG	64895	broad.mit.edu	37	2	61021134	61021135	+	Frame_Shift_Ins	INS	-	-	C	rs140373990		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:61021134_61021135insC	ENST00000238714.3	+	19	2046_2047	c.1797_1798insC	c.(1795-1800)tcccccfs	p.SP599fs		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	599					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AAACTGTATCACCCCCCACTGT	0.401													8	226	---	---	---	---					
ANTXR1	84168	broad.mit.edu	37	2	69409763	69409764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:69409763_69409764insC	ENST00000303714.4	+	16	1646_1647	c.1324_1325insC	c.(1324-1326)cccfs	p.P442fs		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	442					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCGGCCTTCTTCCCCCCGGAAG	0.421									Familial Infantile Hemangioma				9	476	---	---	---	---					
RAB11FIP5	26056	broad.mit.edu	37	2	73303155	73303156	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:73303155_73303156insG	ENST00000258098.6	-	4	1963_1964	c.1723_1724insC	c.(1723-1725)ggcfs	p.G575fs	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	575					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	p.Q575fs*11(1)		biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CTGGCCAGCCTGGGGGGCCTGG	0.599													7	1140	---	---	---	---					
NAT8	9027	broad.mit.edu	37	2	73868515	73868516	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:73868515_73868516insT	ENST00000272425.3	-	2	389_390	c.240_241insA	c.(238-243)aacctgfs	p.NL80fs		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	80	N-acetyltransferase.				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						TCCGTCCAGGGTTTTTTGGCAA	0.564													7	1100	---	---	---	---					
ACTG2	72	broad.mit.edu	37	2	74128517	74128518	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:74128517_74128518insC	ENST00000409624.1	+	3	722_723	c.79_80insC	c.(79-81)cccfs	p.P27fs	ACTG2_ENST00000409918.1_Frame_Shift_Ins_p.P27fs|ACTG2_ENST00000409731.3_Frame_Shift_Ins_p.P27fs|ACTG2_ENST00000345517.3_Frame_Shift_Ins_p.P27fs			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	27					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						AGGAGATGATGCCCCCCGGGCT	0.619													7	395	---	---	---	---					
SLC4A5	57835	broad.mit.edu	37	2	74480126	74480127	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:74480126_74480127insG	ENST00000394019.2	-	15	1639_1640	c.1242_1243insC	c.(1240-1245)ccagaafs	p.E415fs	SLC4A5_ENST00000423644.1_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000377632.1_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000359484.4_Frame_Shift_Ins_p.E351fs|SLC4A5_ENST00000358683.4_Frame_Shift_Ins_p.E351fs|SLC4A5_ENST00000357822.5_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000377634.4_Frame_Shift_Ins_p.E415fs|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000346834.4_Frame_Shift_Ins_p.E415fs	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	415						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGCACCTTCTTGGGGGGCTCAA	0.475													9	466	---	---	---	---					
WBP1	23559	broad.mit.edu	37	2	74687542	74687543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:74687542_74687543insC	ENST00000393972.3	+	5	849_850	c.646_647insC	c.(646-648)cccfs	p.P216fs	WBP1_ENST00000233615.2_Frame_Shift_Ins_p.P182fs|WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000409737.1_Frame_Shift_Ins_p.P179fs			Q96G27	WBP1_HUMAN	WW domain binding protein 1	182							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CCACCAGAGTGCCCCCCCTCAT	0.604													9	177	---	---	---	---					
MOGS	7841	broad.mit.edu	37	2	74690034	74690035	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:74690034_74690035insG	ENST00000233616.4	-	4	1043_1044	c.881_882insC	c.(880-882)cgafs	p.R294fs	MOGS_ENST00000452063.2_Frame_Shift_Ins_p.R188fs|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000462443.1_5'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	294					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GGTAGCGTTCAGGGGGGGCCCC	0.584													25	586	---	---	---	---					
PCGF1	84759	broad.mit.edu	37	2	74732899	74732900	+	Splice_Site	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:74732899_74732900insG	ENST00000233630.6	-	6	1442		c.e6-2		PCGF1_ENST00000480844.2_Splice_Site	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1						histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						TTGCCAGAACTGGGGGGAAATA	0.530													7	863	---	---	---	---					
SEMA4F	10505	broad.mit.edu	37	2	74906845	74906846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:74906845_74906846insC	ENST00000357877.2	+	14	1971_1972	c.1822_1823insC	c.(1822-1824)cccfs	p.P608fs	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Frame_Shift_Ins_p.P453fs	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	608	Ig-like C2-type.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GACTGCACTCACCCCCCGGCGG	0.629													10	601	---	---	---	---					
HK2	3099	broad.mit.edu	37	2	75104377	75104378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:75104377_75104378insG	ENST00000290573.2	+	8	1560_1561	c.960_961insG	c.(958-963)ttggggfs	p.LG320fs	HK2_ENST00000409174.1_Frame_Shift_Ins_p.LG292fs	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	320	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						AGCTGCTCTTTGGGGGGAAGCT	0.545													8	716	---	---	---	---					
TCF7L1	83439	broad.mit.edu	37	2	85536195	85536196	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:85536195_85536196insC	ENST00000282111.3	+	12	1652_1653	c.1377_1378insC	c.(1375-1380)ctccccfs	p.LP459fs		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	459					chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						TTCAGTACCTGCCCCCCGAGAA	0.614													7	415	---	---	---	---					
USP39	10713	broad.mit.edu	37	2	85863227	85863228	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:85863227_85863228insG	ENST00000323701.6	+	7	1011_1012	c.1001_1002insG	c.(1000-1002)cggfs	p.R334fs	USP39_ENST00000409766.3_Frame_Shift_Ins_p.R334fs|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409470.1_Frame_Shift_Ins_p.R334fs|USP39_ENST00000450066.2_Frame_Shift_Ins_p.R231fs|USP39_ENST00000409025.1_Frame_Shift_Ins_p.R334fs	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	334					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CACTCAGCTCTGGGGGGCACAA	0.416													12	733	---	---	---	---					
USP39	10713	broad.mit.edu	37	2	85866422	85866423	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:85866422_85866423insC	ENST00000323701.6	+	9	1202_1203	c.1192_1193insC	c.(1192-1194)cccfs	p.P398fs	USP39_ENST00000409766.3_Frame_Shift_Ins_p.P398fs|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409470.1_Frame_Shift_Ins_p.P398fs|USP39_ENST00000450066.2_Frame_Shift_Ins_p.P295fs|USP39_ENST00000409025.1_Frame_Shift_Ins_p.P398fs	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	398					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CCTTCCTACTGCCCCCCTCTAC	0.505													7	602	---	---	---	---					
LINC00152	112597	broad.mit.edu	37	2	87865524	87865525	+	RNA	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:87865524_87865525insC	ENST00000409054.1	+	0	278					NR_015395.1																						AAAATAAATTTCCCCCCAGAAC	0.455													7	485	---	---	---	---					
ANKRD23	200539	broad.mit.edu	37	2	97507820	97507821	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:97507820_97507821insG	ENST00000318357.4	-	3	317_318	c.276_277insC	c.(274-279)ccggaafs	p.E93fs	ANKRD23_ENST00000418232.1_Frame_Shift_Ins_p.E93fs|ANKRD23_ENST00000331001.2_Frame_Shift_Ins_p.E93fs|ANKRD23_ENST00000476975.1_5'UTR	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	93						nucleus				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						TCAGGTTTCCTGGGGGGGACTC	0.530													10	457	---	---	---	---					
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:98427639delT	ENST00000186436.5	-	18	2148	c.1920delA	c.(1918-1920)aafs	p.K640fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	640						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCCTCTAATTTTTTTGCAG	0.393													7	660	---	---	---	---					
VWA3B	200403	broad.mit.edu	37	2	98914463	98914464	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:98914463_98914464insG	ENST00000477737.1	+	24	3455_3456	c.3251_3252insG	c.(3250-3252)gggfs	p.G1084fs	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1084										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATCACGCCTGTGGGGGGCGCCA	0.584													7	400	---	---	---	---					
IL1R2	7850	broad.mit.edu	37	2	102638681	102638682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:102638681_102638682insC	ENST00000332549.3	+	6	950_951	c.721_722insC	c.(721-723)cccfs	p.P241fs	IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.P241fs|IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.P241fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	241	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TGTGATCATTTCCCCCCTCAAG	0.490													10	681	---	---	---	---					
EDAR	10913	broad.mit.edu	37	2	109539836	109539837	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:109539836_109539837insG	ENST00000409271.1	-	6	872_873	c.429_430insC	c.(427-432)ccacacfs	p.H144fs	EDAR_ENST00000376651.1_Frame_Shift_Ins_p.H144fs|EDAR_ENST00000258443.2_Frame_Shift_Ins_p.H144fs			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	144					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TCCTTGGTGTTGGGGGGTGCCA	0.535													11	605	---	---	---	---					
FIGN	55137	broad.mit.edu	37	2	164467542	164467543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:164467542_164467543insC	ENST00000333129.3	-	3	1113_1114	c.799_800insG	c.(799-801)accfs	p.T267fs	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	267	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	p.A267fs*100(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGGAGGCGGTGCCCCCCCAGGG	0.609													17	296	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2053-2058)acggggfs	p.TG685fs	XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	510					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATGT	0.421													10	256	---	---	---	---					
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:171240258_171240259insC	ENST00000334231.6	+	12	1251_1252	c.1251_1252insC	c.(1249-1254)aaccccfs	p.NP417fs	MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs			Q8WXR4	MYO3B_HUMAN	myosin IIIB	408	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465													9	414	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)gggfs	p.G559fs	ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GACTATTTCAAGGGGGGGACTG	0.431													12	471	---	---	---	---					
MFSD6	54842	broad.mit.edu	37	2	191301838	191301839	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:191301838_191301839insC	ENST00000392328.1	+	3	1407_1408	c.1083_1084insC	c.(1081-1086)aaccccfs	p.NP361fs	MFSD6_ENST00000281416.7_Frame_Shift_Ins_p.NP361fs	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	361					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						AGGGGTGTAAGCCCCCCGAGTA	0.579													8	237	---	---	---	---					
STAT1	6772	broad.mit.edu	37	2	191862616	191862617	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:191862616_191862617insC	ENST00000361099.3	-	9	1137_1138	c.750_751insG	c.(748-753)ggcgccfs	p.A251fs	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392322.3_Frame_Shift_Ins_p.A251fs|STAT1_ENST00000392323.2_Frame_Shift_Ins_p.A253fs|STAT1_ENST00000409465.1_Frame_Shift_Ins_p.A251fs	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	251					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	GCATTGGGCGGCCCCCCAATAC	0.475													7	184	---	---	---	---					
ANKRD44	91526	broad.mit.edu	37	2	197953472	197953473	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:197953472_197953473insT	ENST00000328737.2	-	12	1210_1211	c.1134_1135insA	c.(1132-1137)aattggfs	p.NW378fs	ANKRD44_ENST00000409153.1_Frame_Shift_Ins_p.NW403fs|ANKRD44_ENST00000477852.1_5'UTR|ANKRD44_ENST00000337207.5_Frame_Shift_Ins_p.NW378fs|ANKRD44_ENST00000539527.1_Frame_Shift_Ins_p.NW331fs|ANKRD44_ENST00000450567.1_Frame_Shift_Ins_p.NW378fs|ANKRD44_ENST00000282272.8_Frame_Shift_Ins_p.NW395fs			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	403							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTCTTCCAAATTTATCTGGGG	0.381													66	150	---	---	---	---					
FAM117B	150864	broad.mit.edu	37	2	203621968	203621969	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:203621968_203621969insC	ENST00000303116.6	+	6	1147_1148	c.405_406insC	c.(403-408)ccccccfs	p.PP135fs	FAM117B_ENST00000392238.2_Frame_Shift_Ins_p.PP379fs	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	379										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						ATCGTGCTCCACCCCCCCTTGT	0.485													13	421	---	---	---	---					
ADAM23	8745	broad.mit.edu	37	2	207460860	207460861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:207460860_207460861insC	ENST00000264377.3	+	24	2661_2662	c.2333_2334insC	c.(2332-2334)cccfs	p.P778fs	ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.P778fs|ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.P778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	778					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.K781fs*3(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGAACCTTCACCCCCCCAAGG	0.455													8	169	---	---	---	---					
RUFY4	285180	broad.mit.edu	37	2	218940309	218940310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:218940309_218940310insG	ENST00000374155.3	+	8	1564_1565	c.1154_1155insG	c.(1153-1155)tggfs	p.W385fs	RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Frame_Shift_Ins_p.W365fs|RUFY4_ENST00000463872.1_3'UTR			Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	365							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGCAGGGGTCGGGGGGCTCTA	0.594													7	358	---	---	---	---					
RNF25	64320	broad.mit.edu	37	2	219529513	219529514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:219529513_219529514insC	ENST00000295704.2	-	9	1189_1190	c.749_750insG	c.(748-750)gatfs	p.D250fs		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	250					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	p.I251fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCAATGATTCCCCCCCGCTC	0.564													18	633	---	---	---	---					
PTPRN	5798	broad.mit.edu	37	2	220168477	220168478	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:220168477_220168478insG	ENST00000295718.2	-	4	596_597	c.356_357insC	c.(355-357)cgafs	p.R119fs	PTPRN_ENST00000423636.2_Frame_Shift_Ins_p.R29fs|PTPRN_ENST00000409251.3_Frame_Shift_Ins_p.R119fs|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	119					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GACGGGGCTCTGGGGGGCGAAG	0.550													9	433	---	---	---	---					
SLC4A3	6508	broad.mit.edu	37	2	220504281	220504282	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:220504281_220504282insG	ENST00000358055.3	+	20	3613_3614	c.3101_3102insG	c.(3100-3102)cggfs	p.R1034fs	SLC4A3_ENST00000373760.2_Frame_Shift_Ins_p.R1034fs|SLC4A3_ENST00000373762.3_Frame_Shift_Ins_p.R1061fs|SLC4A3_ENST00000273063.6_Frame_Shift_Ins_p.R1061fs|SLC4A3_ENST00000317151.3_Frame_Shift_Ins_p.R1034fs			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1034	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATTGGCTCCCTGGGGGGGCTCT	0.644													42	703	---	---	---	---					
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cctfs	p.P202fs	NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs|NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AATCACCAGGTGGGGGGGCAGG	0.535													20	509	---	---	---	---					
SRGAP3	9901	broad.mit.edu	37	3	9034599	9034600	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:9034599_9034600insC	ENST00000383836.3	-	20	2975_2976	c.2548_2549insG	c.(2548-2550)gatfs	p.D850fs	SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.D826fs	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	850					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCGGCCCATCACCCCCCCAAAG	0.554			T	RAF1	pilocytic astrocytoma								11	202	---	---	---	---					
IL17RC	84818	broad.mit.edu	37	3	9965673	9965674	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:9965673_9965674insC	ENST00000295981.3	+	8	1162_1163	c.944_945insC	c.(943-945)gccfs	p.A315fs	IL17RC_ENST00000403601.3_Frame_Shift_Ins_p.A244fs|IL17RC_ENST00000416074.2_Frame_Shift_Ins_p.A100fs|IL17RC_ENST00000413608.1_Frame_Shift_Ins_p.A244fs|IL17RC_ENST00000455057.1_Frame_Shift_Ins_p.A229fs|IL17RC_ENST00000383812.4_Frame_Shift_Ins_p.A229fs|IL17RC_ENST00000498214.1_3'UTR	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	315						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CAGGTCCAGGGCCCCCCAAAAC	0.579													7	119	---	---	---	---					
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs146316187		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:10088407_10088410delAGTA	ENST00000287647.3	+	15	1371	c.1278_splice	c.e15+1	p.426_splice	FANCD2_ENST00000419585.1_Splice_Site_p.426_splice|FANCD2_ENST00000383806.1_Splice_Site_p.426_splice|FANCD2_ENST00000383807.1_Splice_Site_p.426_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				19	33	---	---	---	---					
NKTR	4820	broad.mit.edu	37	3	42679035	42679036	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:42679035_42679036insC	ENST00000232978.8	+	13	2027_2028	c.1839_1840insC	c.(1837-1842)agccccfs	p.SP613fs	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	613					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TGAGTGACAGTCCCCCCCCTTC	0.421													18	192	---	---	---	---					
RBM6	10180	broad.mit.edu	37	3	50005144	50005145	+	Frame_Shift_Ins	INS	-	-	G	rs141234052		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:50005144_50005145insG	ENST00000266022.4	+	3	545_546	c.286_287insG	c.(286-288)gggfs	p.G96fs	RBM6_ENST00000539992.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000422955.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	96					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACATGATTTCAGGGGGGGAGAT	0.495													7	175	---	---	---	---					
ATXN7	6314	broad.mit.edu	37	3	63981831	63981832	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:63981831_63981832insC	ENST00000398590.3	+	12	2886_2887	c.2333_2334insC	c.(2332-2334)gccfs	p.A778fs	ATXN7_ENST00000487717.1_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000295900.6_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000538065.1_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000484332.1_Frame_Shift_Ins_p.A633fs	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	778	Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TCAGGGAGGGGCCCCCCCACCG	0.545													7	122	---	---	---	---					
VGLL3	389136	broad.mit.edu	37	3	87018182	87018183	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:87018182_87018183insC	ENST00000398399.2	-	3	857_858	c.494_495insG	c.(493-495)ggtfs	p.G165fs	VGLL3_ENST00000383698.3_Frame_Shift_Ins_p.G165fs	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGGATGAACTCCCCCCAAACA	0.579													9	304	---	---	---	---					
ZBTB20	26137	broad.mit.edu	37	3	114058002	114058003	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:114058002_114058003insG	ENST00000462705.1	-	12	2677_2678	c.1856_1857insC	c.(1855-1857)cgcfs	p.R619fs	ZBTB20_ENST00000481632.1_Frame_Shift_Ins_p.R619fs|ZBTB20_ENST00000393785.2_Frame_Shift_Ins_p.R619fs|ZBTB20_ENST00000464560.1_Frame_Shift_Ins_p.R619fs|ZBTB20_ENST00000471418.1_Frame_Shift_Ins_p.R619fs|ZBTB20_ENST00000474710.1_Frame_Shift_Ins_p.R692fs|ZBTB20_ENST00000357258.3_Frame_Shift_Ins_p.R619fs	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P619fs*43(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTGTGCCTGCAGGGGGGGTCCC	0.634													7	170	---	---	---	---					
PDIA5	10954	broad.mit.edu	37	3	122869088	122869089	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:122869088_122869089insC	ENST00000316218.7	+	14	1245_1246	c.1150_1151insC	c.(1150-1152)cccfs	p.P384fs	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	384	Thioredoxin 2.|Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		CAGCCCTGAGGCCCCCCCGCCC	0.604													10	241	---	---	---	---					
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:141535707_141535708insG	ENST00000264952.2	+	4	1614_1615	c.1477_1478insG	c.(1477-1479)gggfs	p.G493fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	493	AGC-kinase C-terminal.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.R493L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTGAGGTTCGGGGGGTGGAA	0.460													7	832	---	---	---	---					
EIF2B5	8893	broad.mit.edu	37	3	183855702	183855703	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:183855702_183855703insA	ENST00000273783.3	+	4	645_646	c.523_524insA	c.(523-525)aaafs	p.K175fs	EIF2B5_ENST00000498831.1_3'UTR|EIF2B5_ENST00000444495.1_Frame_Shift_Ins_p.K175fs	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	175					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ACGGAAGCTAGAAAAAAATGTT	0.480													7	581	---	---	---	---					
LINC00969	440993	broad.mit.edu	37	3	195397992	195397993	+	RNA	INS	-	-	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:195397992_195397993insT	ENST00000445430.1	+	0	919																											TAAATGTGTGGTTTTTTGCAGG	0.391													9	1362	---	---	---	---					
TNK2	10188	broad.mit.edu	37	3	195597005	195597006	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:195597005_195597006insG	ENST00000333602.6	-	11	2139_2140	c.1522_1523insC	c.(1522-1524)gcafs	p.A508fs	TNK2_ENST00000381916.2_Frame_Shift_Ins_p.A571fs|TNK2_ENST00000392400.1_Frame_Shift_Ins_p.A508fs|TNK2_ENST00000428187.1_Frame_Shift_Ins_p.A540fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	508				Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TCCTAGATGCTGGGGGGGCCGG	0.614													3	3	---	---	---	---					
SLC51A	200931	broad.mit.edu	37	3	195955037	195955038	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:195955037_195955038insG	ENST00000296327.5	+	5	623_624	c.414_415insG	c.(412-417)ttggggfs	p.LG138fs		NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		TGGAAGGCTTTGGGGGGAAGGA	0.614													7	857	---	---	---	---					
LETM1	3954	broad.mit.edu	37	4	1843235	1843236	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:1843235_1843236insG	ENST00000302787.2	-	3	728_729	c.432_433insC	c.(430-435)cccagafs	p.R145fs		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	145					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			ACCACCTCTGCGGGGGGGCTGT	0.604													14	215	---	---	---	---					
FAM193A	8603	broad.mit.edu	37	4	2661592	2661593	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:2661592_2661593insC	ENST00000324666.5	+	8	1034_1035	c.683_684insC	c.(682-684)gccfs	p.A228fs	FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.A252fs|FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.A228fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGTATCATGGACCCCCCCGTCA	0.525													8	464	---	---	---	---					
HTT	3064	broad.mit.edu	37	4	3117148	3117160	+	Frame_Shift_Del	DEL	AGTTGGCTACTAA	AGTTGGCTACTAA	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:3117148_3117160delAGTTGGCTACTAA	ENST00000355072.5	+	7	1010_1022	c.865_877delAGTTGGCTACTAA	c.(865-879)atfs	p.SWLLN289fs		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	289					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)		ATATTTCTATAGTTGGCTACTAAATGTGCTCTT	0.469													33	151	---	---	---	---					
LGI2	55203	broad.mit.edu	37	4	25005320	25005321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:25005320_25005321insC	ENST00000382114.4	-	8	1575_1576	c.1390_1391insG	c.(1390-1392)catfs	p.H464fs		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	464						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CAGGGTCATGGCCCCCCGGGAT	0.515													7	381	---	---	---	---					
KLF3	51274	broad.mit.edu	37	4	38691475	38691476	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:38691475_38691476insC	ENST00000261438.5	+	4	975_976	c.670_671insC	c.(670-672)cccfs	p.P224fs	KLF3_ENST00000514033.1_Frame_Shift_Ins_p.P224fs	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	224	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						GAACTCAGTGTCCCCCCCGCAA	0.426													10	290	---	---	---	---					
FRAS1	80144	broad.mit.edu	37	4	79238582	79238583	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:79238582_79238583insC	ENST00000264895.6	+	17	2320_2321	c.1880_1881insC	c.(1879-1881)accfs	p.T627fs	FRAS1_ENST00000325942.6_Frame_Shift_Ins_p.T627fs|FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.T627fs	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	627					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACAGCCTGCAGCCCCCCCAAGG	0.574													10	164	---	---	---	---					
SLC10A6	345274	broad.mit.edu	37	4	87769942	87769943	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:87769942_87769943insC	ENST00000273905.6	-	1	473_474	c.326_327insG	c.(325-327)gacfs	p.D109fs	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	109						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TAGAGATGGTGCCCCCCGGGCA	0.505													11	284	---	---	---	---					
C4orf17	84103	broad.mit.edu	37	4	100443777	100443778	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:100443777_100443778insC	ENST00000514652.1	+	3	602_603	c.248_249insC	c.(247-249)tccfs	p.S83fs	C4orf17_ENST00000503257.1_3'UTR|C4orf17_ENST00000326581.4_Frame_Shift_Ins_p.S83fs			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	83										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AATTGCAGTTACCCCTCCAGCA	0.500													8	240	---	---	---	---					
ANK2	287	broad.mit.edu	37	4	114280134	114280135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:114280134_114280135insG	ENST00000357077.4	+	38	10413_10414	c.10360_10361insG	c.(10360-10362)gggfs	p.G3454fs	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Frame_Shift_Ins_p.G3421fs|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3421					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.T3457fs*8(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTTCCTGCAGGGGGGGCACG	0.455													8	106	---	---	---	---					
ANKRD50	57182	broad.mit.edu	37	4	125590618	125590619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:125590618_125590619insC	ENST00000504087.1	-	4	4850_4851	c.3813_3814insG	c.(3811-3816)ggaatcfs	p.I1272fs	ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.I1093fs	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1272	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTTTCTGATTTCCCCCCTTTAC	0.391													12	709	---	---	---	---					
SETD7	80854	broad.mit.edu	37	4	140432891	140432892	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:140432891_140432892insG	ENST00000274031.3	-	8	1662_1663	c.1026_1027insC	c.(1024-1029)ccggaafs	p.E343fs	SETD7_ENST00000506866.2_Intron	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	343					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					CCACTCTTCCCGGGGGGGCTGT	0.609													7	124	---	---	---	---					
TENM3	55714	broad.mit.edu	37	4	183609358	183609359	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:183609358_183609359insG	ENST00000511685.1	+	12	2198_2199	c.2075_2076insG	c.(2074-2076)aggfs	p.R692fs	TENM3_ENST00000406950.2_Frame_Shift_Ins_p.R692fs|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		GGCGTTTGCATGGGGGGGACGT	0.589													15	505	---	---	---	---					
TRIML2	205860	broad.mit.edu	37	4	189012770	189012771	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:189012770_189012771insG	ENST00000512729.1	-	7	1294_1295	c.920_921insC	c.(919-921)cctfs	p.P307fs	TRIML2_ENST00000326754.3_Frame_Shift_Ins_p.P332fs	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	307	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCCTTTTCAGAGGGGGGAAGAC	0.559													8	474	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	31799540	31799541	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:31799540_31799541insC	ENST00000438447.1	+	2	573_574	c.185_186insC	c.(184-186)accfs	p.T62fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.T62fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	62					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.E65fs*34(1)|p.E65fs*21(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCTGATCACAGCCCCCCCGAAA	0.589													20	528	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	31799656	31799657	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:31799656_31799657insG	ENST00000438447.1	+	2	689_690	c.301_302insG	c.(301-303)gggfs	p.G101fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.G101fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	101	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAAAAGCGCAGGGGGGGCAAG	0.574													11	382	---	---	---	---					
LOC100653061	100653061	broad.mit.edu	37	5	34175819	34175820	+	RNA	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:34175819_34175820insC	ENST00000514048.1	-	0	452																											TAAACCAGCTTCCCCCCTTTGT	0.455													2	4	---	---	---	---					
SPEF2	79925	broad.mit.edu	37	5	35700726	35700726	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:35700726delA	ENST00000440995.2	+	16	2255	c.2255delA	c.(2254-2256)cafs	p.Q752fs	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Frame_Shift_Del_p.Q757fs|SPEF2_ENST00000509059.1_Frame_Shift_Del_p.Q752fs			Q9C093	SPEF2_HUMAN	sperm flagellar 2	757					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAAAAGCACAAAAATCCACA	0.388													73	85	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36608557	36608558	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:36608557_36608558insG	ENST00000265113.4	+	2	508_509	c.32_33insG	c.(31-33)aggfs	p.R11fs	SLC1A3_ENST00000506725.1_3'UTR|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.R11fs	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	11					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	GAGCCCAAGATGGGGGGCAGGA	0.455													8	377	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(928-933)atggggfs	p.MG310fs	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	310					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TGGGTGTGATTGGGGGGCAGCT	0.520													18	1079	---	---	---	---					
CARD6	84674	broad.mit.edu	37	5	40853093	40853094	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:40853093_40853094insT	ENST00000254691.5	+	3	1858_1859	c.1659_1660insT	c.(1657-1662)gtttttfs	p.VF553fs	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	553					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CTTCAGCTGTGTTTTTTTTCAC	0.416													8	529	---	---	---	---					
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggctcfs	p.L277fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376													9	209	---	---	---	---					
MOCS2	4338	broad.mit.edu	37	5	52402939	52402940	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:52402939_52402940insG	ENST00000361377.4	-	3	293_294	c.252_253insC	c.(250-255)ccttagfs	p.*85fs	MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000396954.3_Frame_Shift_Ins_p.L22fs|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.*85fs			O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	85					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCTCCACTAATGGGGGGGATAA	0.426													12	369	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5895)accfs	p.T1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485													14	409	---	---	---	---					
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)taafs	p.*294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366													13	163	---	---	---	---					
AGGF1	55109	broad.mit.edu	37	5	76358966	76358967	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:76358966_76358967insA	ENST00000312916.7	+	14	2416_2417	c.2034_2035insA	c.(2032-2037)aaaaaafs	p.KK678fs		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	678					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AAAACAAGAACAAAAAAAACTG	0.465													7	879	---	---	---	---					
BHMT	635	broad.mit.edu	37	5	78417151	78417152	+	Frame_Shift_Ins	INS	-	-	C	rs60947960	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:78417151_78417152insC	ENST00000274353.5	+	5	695_696	c.588_589insC	c.(586-591)gtccccfs	p.VP196fs	BHMT_ENST00000524080.1_Intron|DMGDH_ENST00000520388.1_5'UTR	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	196	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	TGCATGGCGTGCCCCCCGGCGA	0.490													8	711	---	---	---	---					
FAM170A	340069	broad.mit.edu	37	5	118969956	118969957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:118969956_118969957insC	ENST00000515256.1	+	3	685_686	c.513_514insC	c.(511-516)acccccfs	p.TP171fs				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	171						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						GGGTAGGTACTCCCCCCTCTGA	0.540													9	652	---	---	---	---					
ZNF608	57507	broad.mit.edu	37	5	123984683	123984684	+	Frame_Shift_Ins	INS	-	-	C	rs151227213		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:123984683_123984684insC	ENST00000306315.5	-	4	1828_1829	c.1393_1394insG	c.(1393-1395)caafs	p.Q465fs	ZNF608_ENST00000504926.1_Frame_Shift_Ins_p.Q38fs	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	465						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTTCCCATTGGCCCCCCCTCTG	0.629													11	242	---	---	---	---					
SLC22A5	6584	broad.mit.edu	37	5	131722730	131722731	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:131722730_131722731insC	ENST00000245407.3	+	5	1059_1060	c.838_839insC	c.(838-840)cccfs	p.P280fs	SLC22A5_ENST00000435065.2_Frame_Shift_Ins_p.P304fs	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	280					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	CATCCCTGAGTCCCCCCGATGG	0.545											OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	1584	---	---	---	---					
TCF7	6932	broad.mit.edu	37	5	133473764	133473765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:133473764_133473765insC	ENST00000395029.1	+	4	651_652	c.456_457insC	c.(454-459)caccccfs	p.HP152fs	TCF7_ENST00000378560.4_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000321584.4_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000518915.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.HP37fs			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	152					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCCAATCAGCCCCCCCACGG	0.574													7	171	---	---	---	---					
SEC24A	10802	broad.mit.edu	37	5	134053794	134053795	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:134053794_134053795insC	ENST00000398844.2	+	20	3189_3190	c.2901_2902insC	c.(2899-2904)caccccfs	p.HP967fs		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	967					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCATACCTCAGCCCCCCATTCT	0.426													8	461	---	---	---	---					
SLC25A48	153328	broad.mit.edu	37	5	135207263	135207264	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:135207263_135207264insG	ENST00000274513.5	+	5	707_708	c.535_536insG	c.(535-537)gggfs	p.G179fs	SLC25A48_ENST00000412661.2_Intron|SLC25A48_ENST00000420621.1_Frame_Shift_Ins_p.G179fs|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000433282.2_Frame_Shift_Ins_p.G125fs			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	179					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GGGGCTATACCGGGGGGCCAGT	0.604													10	525	---	---	---	---					
FAM53C	51307	broad.mit.edu	37	5	137680862	137680863	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:137680862_137680863insC	ENST00000239906.5	+	4	913_914	c.485_486insC	c.(484-486)accfs	p.T162fs	FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000434981.2_Frame_Shift_Ins_p.T162fs	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	162										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCTCACCAGAGCCCCCCAAAGC	0.668													8	240	---	---	---	---					
PSD2	84249	broad.mit.edu	37	5	139193287	139193288	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:139193287_139193288insG	ENST00000274710.3	+	3	970_971	c.765_766insG	c.(763-768)ccggggfs	p.PG255fs		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	255					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGGGCCCAGGGGGGGATGA	0.614													18	349	---	---	---	---					
PCDHB11	56125	broad.mit.edu	37	5	140579531	140579532	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:140579531_140579532insG	ENST00000354757.3	+	1	184_185	c.184_185insG	c.(184-186)gggfs	p.G62fs	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		62	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTGTCCTCACGGGGGGCTCGG	0.510													9	350	---	---	---	---					
PCDHGA5	56110	broad.mit.edu	37	5	140745935	140745936	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:140745935_140745936insC	ENST00000518069.1	+	1	2038_2039	c.2038_2039insC	c.(2038-2040)cccfs	p.P680fs	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTATCAAGACCCCCATTGAC	0.604													11	1676	---	---	---	---					
PCDHGC3	5098	broad.mit.edu	37	5	140857727	140857728	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:140857727_140857728insC	ENST00000308177.3	+	1	2148_2149	c.2044_2045insC	c.(2044-2046)cccfs	p.P682fs	PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGGCTCTGCCCCCCGGGAG	0.515											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	488	---	---	---	---					
FCHSD1	89848	broad.mit.edu	37	5	141024642	141024643	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:141024642_141024643insG	ENST00000435817.2	-	14	1434_1435	c.1384_1385insC	c.(1384-1386)agcfs	p.S462fs	FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Frame_Shift_Ins_p.S388fs|FCHSD1_ENST00000522126.1_Frame_Shift_Ins_p.S386fs	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	462									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCAGGGCTTGGGGGGCAGGC	0.589													12	279	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)ggggatfs	p.D763fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCTGGATCCTCCCCCCAGCGA	0.579													16	1090	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049509	141049510	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:141049509_141049510insG	ENST00000239440.4	-	15	2293_2294	c.2228_2229insC	c.(2227-2229)cccfs	p.P743fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	743					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGTCAGTGGGTGGGGGGCTCAC	0.564													16	1226	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141050869	141050870	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:141050869_141050870insG	ENST00000239440.4	-	13	2017_2018	c.1952_1953insC	c.(1951-1953)cgcfs	p.R651fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.R313fs|ARAP3_ENST00000508305.1_Intron	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	651					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CATCAGGGGCTGGGGGGAACCA	0.594													10	534	---	---	---	---					
PCDH1	5097	broad.mit.edu	37	5	141242814	141242815	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:141242814_141242815insG	ENST00000287008.3	-	3	3228_3229	c.3081_3082insC	c.(3079-3084)ccaatafs	p.I1028fs	PCDH1_ENST00000394536.3_Frame_Shift_Ins_p.I1028fs|PCDH1_ENST00000456271.1_Frame_Shift_Ins_p.I1016fs|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000536585.1_Frame_Shift_Ins_p.I1006fs|PCDH1_ENST00000503492.1_Intron	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	1028					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTGGGGTATTTGGGGGGGTTGG	0.634													14	345	---	---	---	---					
PCDH1	5097	broad.mit.edu	37	5	141244441	141244442	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:141244441_141244442insG	ENST00000287008.3	-	3	1601_1602	c.1454_1455insC	c.(1453-1455)cctfs	p.P485fs	PCDH1_ENST00000394536.3_Frame_Shift_Ins_p.P485fs|PCDH1_ENST00000456271.1_Frame_Shift_Ins_p.P473fs|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000536585.1_Frame_Shift_Ins_p.P463fs|PCDH1_ENST00000503492.1_Intron	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	485	Cadherin 4.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGCTGGAGAGTGGGGGGTTGCC	0.530													10	997	---	---	---	---					
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:141336747_141336748insG	ENST00000231484.3	-	1	1879_1880	c.669_670insC	c.(667-672)ccagtcfs	p.V224fs		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	224	Cadherin 2.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTCC	0.480													13	467	---	---	---	---					
SPRY4	81848	broad.mit.edu	37	5	141694153	141694154	+	Frame_Shift_Ins	INS	-	-	G	rs144353509		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:141694153_141694154insG	ENST00000344120.4	-	3	775_776	c.589_590insC	c.(589-591)gacfs	p.D197fs	SPRY4_ENST00000434127.2_Frame_Shift_Ins_p.D174fs	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	174	Cys-rich.|SPR.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCAACGTCCGGGGGGATGCA	0.609									Testicular Cancer, Familial Clustering of				10	580	---	---	---	---					
ARHGAP26	23092	broad.mit.edu	37	5	142586762	142586763	+	Splice_Site	INS	-	-	C	rs144777273		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:142586762_142586763insC	ENST00000378004.3	+	21	2343_2344		c.e21-1		ARHGAP26_ENST00000274498.4_Splice_Site|ARHGAP26_ENST00000486650.1_Intron	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26						actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGTCTTGCAGCCCCCCGAATC	0.579													21	655	---	---	---	---					
SLC6A7	6534	broad.mit.edu	37	5	149580754	149580755	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:149580754_149580755insC	ENST00000230671.2	+	6	1197_1198	c.826_827insC	c.(826-828)cccfs	p.P276fs	SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.P276fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	276						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GTTCTATCTCACCCCCCAGTTC	0.634													8	388	---	---	---	---					
TCOF1	6949	broad.mit.edu	37	5	149755744	149755745	+	Frame_Shift_Ins	INS	-	-	C	rs2071240	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:149755744_149755745insC	ENST00000451292.1	+	13	2101_2102	c.1993_1994insC	c.(1993-1995)cccfs	p.P665fs	TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000504761.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000394269.3_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.P588fs			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	665			A -> P (in dbSNP:rs2071240).		skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCACCCAAGCCCCCCGGAAA	0.584													11	462	---	---	---	---					
FAT2	2196	broad.mit.edu	37	5	150886793	150886794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:150886793_150886794insG	ENST00000261800.5	-	22	12450_12451	c.12438_12439insC	c.(12436-12441)ccgactfs	p.T4147fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4147					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCGGGAGTCTGGGGGGCACAC	0.559													14	736	---	---	---	---					
GALNT10	55568	broad.mit.edu	37	5	153789314	153789315	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:153789314_153789315insG	ENST00000297107.6	+	9	1515_1516	c.1378_1379insG	c.(1378-1380)gggfs	p.G460fs	GALNT10_ENST00000377657.3_Frame_Shift_Ins_p.G133fs|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Frame_Shift_Ins_p.G398fs|SAP30L-AS1_ENST00000524264.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	460	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GGCTGCAGCTTGGGGGGAGGTG	0.535													10	581	---	---	---	---					
LARP1	23367	broad.mit.edu	37	5	154181821	154181822	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:154181821_154181822insG	ENST00000336314.4	+	11	1764_1765	c.1740_1741insG	c.(1738-1743)ccggggfs	p.PG580fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	657							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCGGCACCCAGGGGGGGACCG	0.550													17	544	---	---	---	---					
ADAM19	8728	broad.mit.edu	37	5	156915296	156915297	+	Frame_Shift_Ins	INS	-	-	G	rs11466804	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:156915296_156915297insG	ENST00000257527.4	-	21	2604_2605	c.2526_2527insC	c.(2524-2529)cccaccfs	p.T843fs	ADAM19_ENST00000517905.1_Frame_Shift_Ins_p.T843fs|ADAM19_ENST00000430702.2_Frame_Shift_Ins_p.T576fs|ADAM19_ENST00000394020.1_Frame_Shift_Ins_p.T845fs	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	843					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAATTTGGTGCGGGGGGAATTG	0.564													7	524	---	---	---	---					
GABRA6	2559	broad.mit.edu	37	5	161116011	161116012	+	Frame_Shift_Ins	INS	-	-	G	rs143274925		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:161116011_161116012insG	ENST00000523217.1	+	4	494_495	c.252_253insG	c.(250-255)ttggggfs	p.LG84fs	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000274545.5_Frame_Shift_Ins_p.LG94fs	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	94					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGTTGAAGTTTGGGGGGCCAAC	0.406										TCGA Ovarian(5;0.080)			7	330	---	---	---	---					
GPRIN1	114787	broad.mit.edu	37	5	176026664	176026665	+	Frame_Shift_Ins	INS	-	-	G	rs139277418	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:176026664_176026665insG	ENST00000303991.4	-	2	348_349	c.171_172insC	c.(169-174)ccggcafs	p.A58fs		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	58						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGGTGTGCCTGGGGGGTGCAG	0.658													8	217	---	---	---	---					
EXOC2	55770	broad.mit.edu	37	6	637793	637794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:637793_637794insG	ENST00000230449.4	-	2	160_161	c.25_26insC	c.(25-27)tgtfs	p.C9fs	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	9	IPT/TIG.				exocytosis|protein transport			p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GCCGGTCACAAGGGGGGGTTGT	0.485													12	451	---	---	---	---					
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Frame_Shift_Ins	INS	-	-	C	rs55808116		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:10557409_10557410insC	ENST00000316170.3	+	1	1170_1171	c.753_754insC	c.(751-756)ccccccfs	p.PP251fs	GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	253						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGAAACCGCCTCCCCCCCATAA	0.485													9	242	---	---	---	---					
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)agcfs	p.S324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411													14	1247	---	---	---	---					
DDR1	780	broad.mit.edu	37	6	30867830	30867831	+	Frame_Shift_Ins	INS	-	-	G	rs146246499	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:30867830_30867831insG	ENST00000361741.4	+	12	1492_1493	c.1297_1298insG	c.(1297-1299)gggfs	p.G433fs	DDR1_ENST00000452441.1_3'UTR|DDR1_ENST00000376567.2_3'UTR|DDR1_ENST00000376570.4_3'UTR|DDR1_ENST00000376575.3_3'UTR|DDR1_ENST00000324771.8_3'UTR|DDR1_ENST00000376569.3_3'UTR|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000454612.2_3'UTR|DDR1_ENST00000376568.3_3'UTR			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	0					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TGTACATTTTTGGGGGGAGAGA	0.441													10	808	---	---	---	---					
C6orf25	80739	broad.mit.edu	37	6	31692528	31692529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:31692528_31692529insC	ENST00000375809.3	+	5	558_559	c.547_548insC	c.(547-549)cccfs	p.P183fs	C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000480039.1_Intron	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TTCAGCTCTGTCCCCCCCACAT	0.579													14	306	---	---	---	---					
NOTCH4	4855	broad.mit.edu	37	6	32181941	32181942	+	Frame_Shift_Ins	INS	-	-	C	rs143622513		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:32181941_32181942insC	ENST00000375023.3	-	13	2250_2251	c.2112_2113insG	c.(2110-2115)ggcctgfs	p.L705fs	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	705	EGF-like 18.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGGTAGCAGGTCCCCCCATGGG	0.604													8	969	---	---	---	---					
UHRF1BP1	54887	broad.mit.edu	37	6	34791081	34791082	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:34791081_34791082insC	ENST00000192788.5	+	4	465_466	c.294_295insC	c.(292-297)cgccccfs	p.RP98fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.RP98fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	98										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGATCCTCGGCCCCCCAATGG	0.446													12	649	---	---	---	---					
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:35425714_35425715insC	ENST00000229769.2	+	4	1107_1108	c.922_923insC	c.(922-924)cccfs	p.P308fs		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	308	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGTT	0.540			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				9	250	---	---	---	---					
MOCS1	4337	broad.mit.edu	37	6	39874149	39874150	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:39874149_39874150insC	ENST00000308559.7	-	10	1979_1980	c.1846_1847insG	c.(1846-1848)cttfs	p.L616fs	MOCS1_ENST00000340692.5_Frame_Shift_Ins_p.L632fs|MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000373195.3_Frame_Shift_Ins_p.L529fs|MOCS1_ENST00000425303.2_Frame_Shift_Ins_p.L632fs|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000373175.4_3'UTR			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	632	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCGATGGAAGTCCCCCCGCTGA	0.579													7	477	---	---	---	---					
PTK7	5754	broad.mit.edu	37	6	43111195	43111196	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:43111195_43111196insC	ENST00000230419.4	+	14	2309_2310	c.2088_2089insC	c.(2086-2091)ccccccfs	p.PP696fs	PTK7_ENST00000481273.1_Frame_Shift_Ins_p.PP704fs|PTK7_ENST00000345201.2_Frame_Shift_Ins_p.PP656fs|PTK7_ENST00000352931.2_Frame_Shift_Ins_p.PP640fs|PTK7_ENST00000349241.2_Frame_Shift_Ins_p.PP566fs	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	696					actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CTGGCAGCCCTCCCCCCTACAA	0.604											OREG0017450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	484	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:55039410_55039411insC	ENST00000370862.3	+	1	361_362	c.25_26insC	c.(25-27)cccfs	p.P9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTGT	0.564													10	224	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55113573	55113574	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:55113573_55113574insT	ENST00000370862.3	+	2	696_697	c.360_361insT	c.(358-363)tgttttfs	p.CF120fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	120					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTGAGACCTGGTTTTTTGGACA	0.431													7	742	---	---	---	---					
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:87725846_87725847insC	ENST00000305344.4	+	2	1497_1498	c.794_795insC	c.(793-795)accfs	p.T265fs	HTR1E_ENST00000369584.1_Frame_Shift_Ins_p.T265fs	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	265					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCCATCAGGATCCCCCCCTTCG	0.510													8	595	---	---	---	---					
REV3L	5980	broad.mit.edu	37	6	111693903	111693904	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:111693903_111693904insG	ENST00000435970.1	-	15	6236_6237	c.5420_5421insC	c.(5419-5421)cagfs	p.Q1807fs	REV3L_ENST00000358835.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368805.1_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.Q1885fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1885					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCCCTACTTGGGGGGGACAT	0.431								DNA polymerases (catalytic subunits)					24	428	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)gcafs	p.A623fs	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401													20	525	---	---	---	---					
PMS2CL	441194	broad.mit.edu	37	7	6759412	6759413	+	RNA	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:6759412_6759413insG	ENST00000486256.1	+	0	346					NR_002217.1																						GTGTGCCTCCCGGGGGGGAGGT	0.569													11	267	---	---	---	---					
ETV1	2115	broad.mit.edu	37	7	13975472	13975473	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:13975472_13975473insG	ENST00000343495.5	-	7	1098_1099	c.360_361insC	c.(358-363)cccaccfs	p.T121fs	ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000403685.1_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000430479.1_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000242066.5_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000405192.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000403527.1_Frame_Shift_Ins_p.T99fs|ETV1_ENST00000420159.2_Frame_Shift_Ins_p.T81fs|ETV1_ENST00000405218.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000405358.4_Frame_Shift_Ins_p.T153fs			P50549	ETV1_HUMAN	ets variant 1	139					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTGGATGGTGTGGGGGGGTTGG	0.530			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								18	503	---	---	---	---					
OSBPL3	26031	broad.mit.edu	37	7	24870394	24870395	+	Frame_Shift_Ins	INS	-	-	A	rs35793413		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:24870394_24870395insA	ENST00000313367.2	-	16	2327_2328	c.1876_1877insT	c.(1876-1878)agafs	p.R626fs	OSBPL3_ENST00000396429.1_Frame_Shift_Ins_p.R590fs|OSBPL3_ENST00000396431.1_Frame_Shift_Ins_p.R595fs|OSBPL3_ENST00000409069.1_Frame_Shift_Ins_p.R559fs|OSBPL3_ENST00000431825.2_Frame_Shift_Ins_p.R559fs|OSBPL3_ENST00000352860.1_Frame_Shift_Ins_p.R595fs|OSBPL3_ENST00000353930.1_Frame_Shift_Ins_p.R590fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	626					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TACCTGTTCTGAAAAAAACTGG	0.421													7	824	---	---	---	---					
HOXA3	3200	broad.mit.edu	37	7	27148052	27148053	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:27148052_27148053insG	ENST00000396352.4	-	3	1012_1013	c.813_814insC	c.(811-816)ccgagcfs	p.S272fs	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Frame_Shift_Ins_p.S272fs	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	272					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CCACCGGCTCCGGGGGGCACGG	0.619													7	291	---	---	---	---					
ADCYAP1R1	117	broad.mit.edu	37	7	31142950	31142959	+	Frame_Shift_Del	DEL	CGTGTTTGAG	CGTGTTTGAG	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:31142950_31142959delCGTGTTTGAG	ENST00000304166.4	+	14	1435_1444	c.1146_1155delCGTGTTTGAG	c.(1144-1155)ctfs	p.LVFE382fs	ADCYAP1R1_ENST00000409363.1_Frame_Shift_Del_p.LVFE361fs|ADCYAP1R1_ENST00000396211.2_Frame_Shift_Del_p.LVFE410fs|ADCYAP1R1_ENST00000409489.1_Frame_Shift_Del_p.LVFE438fs	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	382					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GGGAAAGACTCGTGTTTGAGCTGGGGCTGG	0.586													31	97	---	---	---	---					
C7orf10	79783	broad.mit.edu	37	7	40899961	40899962	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:40899961_40899962insC	ENST00000309930.5	+	15	1323_1324	c.1299_1300insC	c.(1297-1302)ccccccfs	p.PP433fs	C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000335693.4_Frame_Shift_Ins_p.PP407fs|C7orf10_ENST00000401647.2_Frame_Shift_Ins_p.PP359fs	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	407							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						AGGCCAGGCCGCCCCCGCTGCT	0.569													9	893	---	---	---	---					
COBL	23242	broad.mit.edu	37	7	51287561	51287562	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:51287561_51287562insG	ENST00000395542.2	-	2	305_306	c.121_122insC	c.(121-123)cgafs	p.R41fs	COBL_ENST00000441453.1_Frame_Shift_Ins_p.R41fs|COBL_ENST00000265136.7_Frame_Shift_Ins_p.R41fs|COBL_ENST00000395540.2_Frame_Shift_Ins_p.R41fs			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	41										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGCCCCATCGTGGGGGGGCTTC	0.604													7	177	---	---	---	---					
DTX2	113878	broad.mit.edu	37	7	76112242	76112243	+	Frame_Shift_Ins	INS	-	-	C	rs143934697		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:76112242_76112243insC	ENST00000324432.5	+	5	1196_1197	c.686_687insC	c.(685-687)cccfs	p.P229fs	DTX2_ENST00000430490.2_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000446820.2_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000446600.1_Frame_Shift_Ins_p.P138fs|DTX2_ENST00000307569.8_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000413936.2_Frame_Shift_Ins_p.P229fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	229					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GTCCCCCAGCACCCCCCACACA	0.649													20	606	---	---	---	---					
AKAP9	10142	broad.mit.edu	37	7	91732038	91732039	+	Frame_Shift_Ins	INS	-	-	G	rs143306820		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:91732038_91732039insG	ENST00000359028.2	+	46	11465_11466	c.11240_11241insG	c.(11239-11241)aggfs	p.R3747fs	AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R3693fs|AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.R3743fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3747					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGCCCGGATGGGGGGGCAGC	0.535			T	BRAF	papillary thyroid								18	412	---	---	---	---					
ZCWPW1	55063	broad.mit.edu	37	7	100000150	100000151	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:100000150_100000151insT	ENST00000398027.2	-	16	1706_1707	c.1459_1460insA	c.(1459-1461)caafs	p.Q487fs	ZCWPW1_ENST00000324725.6_Frame_Shift_Ins_p.Q367fs|ZCWPW1_ENST00000490721.1_Frame_Shift_Ins_p.Q367fs|ZCWPW1_ENST00000360951.4_Intron	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	487							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTTGGCTTGGTTTTTTGGGTC	0.480													10	3009	---	---	---	---					
PCOLCE	5118	broad.mit.edu	37	7	100205413	100205414	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:100205413_100205414insC	ENST00000223061.5	+	8	1446_1447	c.1166_1167insC	c.(1165-1167)tccfs	p.S389fs		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	389	NTR.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	p.M392fs*>59(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCAAGCAGTGCCCCCCCATGA	0.510													39	866	---	---	---	---					
AP1S1	1174	broad.mit.edu	37	7	100802404	100802405	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:100802404_100802405insG	ENST00000337619.5	+	4	474_475	c.356_357insG	c.(355-357)aggfs	p.R119fs		NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	119					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGTTTTTGATGGGGGGGGATG	0.564													13	184	---	---	---	---					
PLOD3	8985	broad.mit.edu	37	7	100856125	100856126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:100856125_100856126insC	ENST00000223127.3	-	8	1274_1275	c.876_877insG	c.(874-879)ggagccfs	p.A293fs		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	293					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CACCTCACCTGCCCCCCCGGGA	0.673													7	183	---	---	---	---					
CCDC136	64753	broad.mit.edu	37	7	128457829	128457830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:128457829_128457830insC	ENST00000297788.4	+	17	3748_3749	c.3381_3382insC	c.(3379-3384)aaccccfs	p.NP1127fs	CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.NP488fs|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.NP419fs|CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.NP407fs	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1127						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTACCCCCAATCCCCCCATCTT	0.520													9	1700	---	---	---	---					
TNPO3	23534	broad.mit.edu	37	7	128610258	128610259	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:128610258_128610259insG	ENST00000393245.1	-	20	3016_3017	c.2643_2644insC	c.(2641-2646)ccatacfs	p.Y882fs	TNPO3_ENST00000482320.1_Frame_Shift_Ins_p.Y782fs|TNPO3_ENST00000471166.1_Frame_Shift_Ins_p.Y882fs|TNPO3_ENST00000265388.5_Frame_Shift_Ins_p.Y848fs|TNPO3_ENST00000471234.1_Frame_Shift_Ins_p.Y784fs	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	848					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GGTAGGGTATAGGGGGGGAGGC	0.485													34	580	---	---	---	---					
TRBV4-2	28616	broad.mit.edu	37	7	142045511	142045512	+	RNA	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:142045511_142045512insC	ENST00000390392.3	+	0	160																											TTTGTCCCTTTCCCCCCGCAGT	0.485													7	483	---	---	---	---					
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:142612493_142612494insC	ENST00000265310.1	-	10	1617_1618	c.1269_1270insG	c.(1267-1272)ggcattfs	p.I424fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	424					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACATGGAATGGCCCCCCAAGAA	0.505													10	523	---	---	---	---					
TMEM139	135932	broad.mit.edu	37	7	142983604	142983605	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:142983604_142983605insC	ENST00000359333.3	+	3	846_847	c.333_334insC	c.(331-336)ccccccfs	p.PP111fs	TMEM139_ENST00000409102.1_Frame_Shift_Ins_p.PP111fs|TMEM139_ENST00000410004.1_Frame_Shift_Ins_p.PP111fs|TMEM139_ENST00000409244.1_Frame_Shift_Ins_p.PP111fs|TMEM139_ENST00000471161.1_3'UTR|TMEM139_ENST00000409541.1_Frame_Shift_Ins_p.PP111fs|AC073342.12_ENST00000446192.1_RNA|AC073342.12_ENST00000427392.1_RNA	NM_001242775.1	NP_001229704.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	111						integral to membrane				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					TGGACCAACCACCCCCCTACAG	0.574													8	320	---	---	---	---					
AGAP3	116988	broad.mit.edu	37	7	150814456	150814457	+	Splice_Site	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:150814456_150814457insG	ENST00000397238.2	+	4	478		c.e4-1		AGAP3_ENST00000463381.1_Splice_Site|AGAP3_ENST00000479901.1_Splice_Site|AGAP3_ENST00000473312.1_Splice_Site|AGAP3_ENST00000476375.1_Splice_Site|AGAP3_ENST00000335367.3_Splice_Site	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3						regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCTCTGTCCTAGGGGGGCGGTT	0.579													7	410	---	---	---	---					
GOT1L1	137362	broad.mit.edu	37	8	37793280	37793281	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:37793280_37793281insG	ENST00000307599.4	-	7	969_970	c.870_871insC	c.(868-873)ccacacfs	p.H291fs	GOT1L1_ENST00000518826.1_Frame_Shift_Ins_p.H32fs	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	291					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			GCACCCGTGTTGGGGGGGTTTA	0.609													9	234	---	---	---	---					
GINS4	84296	broad.mit.edu	37	8	41397486	41397487	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:41397486_41397487insC	ENST00000523277.2	+	6	614_615	c.447_448insC	c.(445-450)atccccfs	p.IP149fs	GINS4_ENST00000518671.1_Frame_Shift_Ins_p.IP149fs|GINS4_ENST00000276533.3_Frame_Shift_Ins_p.IP149fs|RP11-360L9.4_ENST00000523081.1_RNA			Q9BRT9	SLD5_HUMAN	GINS complex subunit 4 (Sld5 homolog)	149					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			TGAAGCACATGCCCCCTAACTT	0.530													7	2677	---	---	---	---					
POMK	84197	broad.mit.edu	37	8	42958728	42958729	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:42958728_42958729insC	ENST00000331373.5	+	4	292_293	c.37_38insC	c.(37-39)cccfs	p.P13fs		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN		13						integral to membrane	ATP binding|protein kinase activity										GAGAGGCCTCGCCCCCCGAGAG	0.540													7	320	---	---	---	---					
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)cccfs	p.P1552fs	ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs|ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421													7	159	---	---	---	---					
ASAP1	50807	broad.mit.edu	37	8	131073124	131073125	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:131073124_131073125insG	ENST00000357668.1	-	27	2919_2920	c.2892_2893insC	c.(2890-2895)ccaaccfs	p.T965fs	ASAP1_ENST00000518721.1_Frame_Shift_Ins_p.T965fs			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	965	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AGCTGTGGTTTGGGGGGCAGTT	0.599													7	260	---	---	---	---					
ADCY8	114	broad.mit.edu	37	8	131793125	131793126	+	Splice_Site	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:131793125_131793126insG	ENST00000286355.5	-	18	5361		c.e18-2		ADCY8_ENST00000377928.3_Splice_Site	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGCTGATGCCTGGGGGGTGAAG	0.554										HNSCC(32;0.087)			7	419	---	---	---	---					
AGO2	27161	broad.mit.edu	37	8	141554344	141554345	+	Frame_Shift_Ins	INS	-	-	G	rs148575703	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:141554344_141554345insG	ENST00000220592.5	-	14	1918_1919	c.1806_1807insC	c.(1804-1809)ccccggfs	p.R603fs	AGO2_ENST00000519980.1_Frame_Shift_Ins_p.R603fs	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		CCATCCCCGGCGGGGGGGTGAG	0.644													13	275	---	---	---	---					
GLDC	2731	broad.mit.edu	37	9	6536174	6536174	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:6536174delA	ENST00000321612.6	-	23	2878	c.2728delT	c.(2728-2730)cgfs	p.S910fs		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	910					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TTGTCCTCCGACTCAGTGGGC	0.572													7	69	---	---	---	---					
FAM219A	203259	broad.mit.edu	37	9	34401027	34401028	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:34401027_34401028insG	ENST00000445726.1	-	6	798_799	c.492_493insC	c.(490-495)ccagtcfs	p.V165fs	FAM219A_ENST00000297620.4_Frame_Shift_Ins_p.V148fs|FAM219A_ENST00000379080.1_Frame_Shift_Ins_p.V152fs|FAM219A_ENST00000379089.1_Frame_Shift_Ins_p.V163fs|FAM219A_ENST00000379081.1_Frame_Shift_Ins_p.V136fs|FAM219A_ENST00000379087.1_Frame_Shift_Ins_p.V146fs|FAM219A_ENST00000379084.1_Splice_Site_p.P147_splice	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	CI025_HUMAN	family with sequence similarity 219, member A	165																	TTCACGGACTTGGGGGGGATGA	0.644													8	71	---	---	---	---					
C9orf131	138724	broad.mit.edu	37	9	35043649	35043650	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:35043649_35043650insC	ENST00000312292.5	+	2	1070_1071	c.1023_1024insC	c.(1021-1026)ccccccfs	p.PP341fs	C9orf131_ENST00000354479.5_Frame_Shift_Ins_p.PP268fs|C9orf131_ENST00000421362.2_Frame_Shift_Ins_p.PP293fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	341										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTCCGATGCCACCCCCCTGCCA	0.530													7	1133	---	---	---	---					
TESK1	7016	broad.mit.edu	37	9	35608959	35608960	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:35608959_35608960insC	ENST00000336395.5	+	10	1351_1352	c.1101_1102insC	c.(1099-1104)tcccccfs	p.SP367fs	TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	367					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CACCAGAATCACCCCCCAACTG	0.609													8	360	---	---	---	---					
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:107593322_107593323insC	ENST00000374736.3	-	14	2169_2170	c.1775_1776insG	c.(1774-1776)gttfs	p.V592fs		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	592					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTAGGCGAAGCCCCCCCAGAC	0.540													11	291	---	---	---	---					
ZNF462	58499	broad.mit.edu	37	9	109691601	109691602	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:109691601_109691602insG	ENST00000277225.5	+	3	5697_5698	c.5408_5409insG	c.(5407-5409)tggfs	p.W1803fs	ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs|ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1803					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCCAGCAAGTTGGGGGGCTACT	0.550													9	281	---	---	---	---					
TNC	3371	broad.mit.edu	37	9	117838741	117838742	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:117838741_117838742insG	ENST00000350763.4	-	8	3198_3199	c.2787_2788insC	c.(2785-2790)cctctcfs	p.L930fs	TNC_ENST00000345230.3_Frame_Shift_Ins_p.L930fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.L930fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.L930fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.L930fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.L930fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.L930fs|TNC_ENST00000346706.3_Frame_Shift_Ins_p.L930fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.L930fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	930	Fibronectin type-III 4.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCTCCAGAGATGGGGGCATACT	0.510													8	1378	---	---	---	---					
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:118982329_118982330insC	ENST00000328252.3	+	5	2401_2402	c.2032_2033insC	c.(2032-2034)cccfs	p.P678fs	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	678					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTTGCCCTCGCCCCCCAAGTT	0.574													18	506	---	---	---	---					
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)del	p.L221del	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601													8	177	---	---	---	---					
NUP188	23511	broad.mit.edu	37	9	131750435	131750436	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:131750435_131750436insC	ENST00000372577.2	+	24	2524_2525	c.2503_2504insC	c.(2503-2505)cccfs	p.P835fs		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	835					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TAATGTGGTGTCCCCCCTGGAA	0.470													7	655	---	---	---	---					
NUP214	8021	broad.mit.edu	37	9	134073007	134073008	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:134073007_134073008insC	ENST00000359428.5	+	29	4270_4271	c.4126_4127insC	c.(4126-4128)cccfs	p.P1376fs	NUP214_ENST00000483497.2_Frame_Shift_Ins_p.P202fs|NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000411637.2_Frame_Shift_Ins_p.P1366fs|NUP214_ENST00000451030.1_Frame_Shift_Ins_p.P1377fs			P35658	NU214_HUMAN	nucleoporin 214kDa	1376	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TAATTTTACTGCCCCCCCGGTG	0.545			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								8	157	---	---	---	---					
ZMYND19	116225	broad.mit.edu	37	9	140481541	140481542	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:140481541_140481542insC	ENST00000298585.2	-	4	462_463	c.236_237insG	c.(235-237)ggtfs	p.G79fs	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	79						Golgi apparatus|plasma membrane	zinc ion binding	p.V80fs*34(2)		endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCGGGGCCACGCCCCCCCGGTG	0.634													7	157	---	---	---	---					
LARP4B	23185	broad.mit.edu	37	10	858880	858881	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:858880_858881insG	ENST00000316157.3	-	17	2242_2243	c.2202_2203insC	c.(2200-2205)ccagtcfs	p.V735fs		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	735							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TGAGGAGACTTGGGGGGAGTGC	0.678													8	237	---	---	---	---					
NUDT5	11164	broad.mit.edu	37	10	12219814	12219815	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:12219814_12219815insC	ENST00000491614.1	-	5	661_662	c.266_267insG	c.(265-267)gtafs	p.V89fs	NUDT5_ENST00000378927.3_Frame_Shift_Ins_p.V89fs|NUDT5_ENST00000378937.3_Frame_Shift_Ins_p.V102fs|NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000537776.1_Frame_Shift_Ins_p.V89fs|NUDT5_ENST00000378940.3_Frame_Shift_Ins_p.V89fs			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	89	Nudix hydrolase.				D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				CTATGCAGTAGCCCCCCATTGG	0.520													7	399	---	---	---	---					
PHYH	5264	broad.mit.edu	37	10	13325834	13325835	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:13325834_13325835insC	ENST00000396920.3	-	7	1036_1037	c.632_633insG	c.(631-633)ggtfs	p.G211fs	PHYH_ENST00000396913.2_Frame_Shift_Ins_p.G128fs|PHYH_ENST00000263038.4_Frame_Shift_Ins_p.G228fs			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	228					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TTTTGTTAACTCCCCCCTAGAA	0.465													12	514	---	---	---	---					
PIP4K2A	5305	broad.mit.edu	37	10	22830827	22830828	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:22830827_22830828insG	ENST00000376573.4	-	8	1169_1170	c.941_942insC	c.(940-942)cgafs	p.R314fs	PIP4K2A_ENST00000545335.1_Frame_Shift_Ins_p.R255fs|PIP4K2A_ENST00000323883.7_Frame_Shift_Ins_p.R174fs	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	314	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CGGGGCTATCTGGGGGGGTTCC	0.584													15	269	---	---	---	---					
KIAA1217	56243	broad.mit.edu	37	10	24822125	24822127	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:24822125_24822127delGAA	ENST00000376451.2	+	11	2682_2684	c.2422_2424delGAA	c.(2422-2424)del	p.E812del	KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del			Q5T5P2	SKT_HUMAN	KIAA1217	1129					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGATGAGGAGGAAGAAGAAGAAG	0.552													8	566	---	---	---	---					
A1CF	29974	broad.mit.edu	37	10	52580311	52580311	+	Splice_Site	DEL	C	C	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:52580311delC	ENST00000395489.2	-	10	1243		c.e10+1		A1CF_ENST00000374001.1_Splice_Site|A1CF_ENST00000395495.1_Splice_Site|A1CF_ENST00000373993.1_Splice_Site|A1CF_ENST00000373997.3_Splice_Site|A1CF_ENST00000282641.2_Splice_Site|A1CF_ENST00000373995.3_Splice_Site|A1CF_ENST00000493415.1_Splice_Site	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor						cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTCTACCTTACCTTGCCATTT	0.423													11	80	---	---	---	---					
PALD1	27143	broad.mit.edu	37	10	72292440	72292441	+	Frame_Shift_Ins	INS	-	-	G	rs145337663	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:72292440_72292441insG	ENST00000263563.6	+	6	965_966	c.697_698insG	c.(697-699)gggfs	p.G233fs		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		CGAGGACCTGTGGGGGGAGCCC	0.604													13	733	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1366_splice	c.e11-1	p.VP456_splice	SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	456					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.510													47	989	---	---	---	---					
KAT6B	23522	broad.mit.edu	37	10	76790222	76790223	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:76790222_76790223insC	ENST00000287239.4	+	18	6129_6130	c.5640_5641insC	c.(5638-5643)ccccccfs	p.PP1880fs	KAT6B_ENST00000372711.1_Frame_Shift_Ins_p.PP1697fs|KAT6B_ENST00000372725.1_Frame_Shift_Ins_p.PP1588fs|KAT6B_ENST00000372714.1_Frame_Shift_Ins_p.PP1588fs|KAT6B_ENST00000372724.1_Frame_Shift_Ins_p.PP1588fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1880	Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CCATGACCCCACCCCCCAACCT	0.535													10	724	---	---	---	---					
FAM213A	84293	broad.mit.edu	37	10	82182206	82182206	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:82182206delA	ENST00000372181.1	+	2	682	c.212delA	c.(211-213)gafs	p.E71fs	FAM213A_ENST00000372187.5_Frame_Shift_Del_p.E71fs|FAM213A_ENST00000372188.1_Frame_Shift_Del_p.E71fs|FAM213A_ENST00000372185.1_Frame_Shift_Del_p.E60fs	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	CJ058_HUMAN	family with sequence similarity 213, member A	71						extracellular region											GAGCTATGGGAAAAAAATGGA	0.488													8	254	---	---	---	---					
CDHR1	92211	broad.mit.edu	37	10	85972096	85972097	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:85972096_85972097insC	ENST00000372117.3	+	15	1818_1819	c.1715_1716insC	c.(1714-1716)cccfs	p.P572fs	CDHR1_ENST00000440770.2_Frame_Shift_Ins_p.P276fs|CDHR1_ENST00000332904.3_Frame_Shift_Ins_p.P572fs	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	572	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GTCAATGACCACCCCCCTCAGT	0.510													8	746	---	---	---	---					
LGI1	9211	broad.mit.edu	37	10	95552601	95552602	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:95552601_95552602insC	ENST00000371418.4	+	6	865_866	c.605_606insC	c.(604-606)gccfs	p.A202fs	LGI1_ENST00000542308.1_Frame_Shift_Ins_p.A154fs|LGI1_ENST00000371413.3_Frame_Shift_Ins_p.A202fs	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	202	LRRCT.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	p.E205fs*9(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TACTGCGAAGGCCCCCCAGAAT	0.421													7	452	---	---	---	---					
ZFYVE27	118813	broad.mit.edu	37	10	99510176	99510177	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:99510176_99510177insG	ENST00000393677.4	+	7	957_958	c.753_754insG	c.(751-756)gtggggfs	p.VG251fs	ZFYVE27_ENST00000370613.3_Frame_Shift_Ins_p.VG133fs|ZFYVE27_ENST00000356257.4_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000357540.4_Frame_Shift_Ins_p.VG165fs|ZFYVE27_ENST00000453958.2_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000337540.7_Frame_Shift_Ins_p.VG219fs|ZFYVE27_ENST00000359980.3_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000370610.3_Frame_Shift_Ins_p.VG153fs	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	251					cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		CACCAGATGTTGGGGGGAAGGA	0.599													9	326	---	---	---	---					
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:101816832_101816833insG	ENST00000370418.3	-	6	1199_1200	c.948_949insC	c.(946-951)ccaagafs	p.R317fs		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	317	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AACTCCTCTTCGGGGGGAAACT	0.470													17	1067	---	---	---	---					
PAX2	5076	broad.mit.edu	37	10	102509528	102509529	+	Frame_Shift_Ins	INS	-	-	G	rs75462234		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:102509528_102509529insG	ENST00000370296.2	+	2	619_620	c.69_70insG	c.(67-72)ctggggfs	p.LG23fs	PAX2_ENST00000553492.1_Intron|PAX2_ENST00000428433.1_Frame_Shift_Ins_p.LG23fs|PAX2_ENST00000361791.3_Frame_Shift_Ins_p.LG23fs|PAX2_ENST00000355243.3_Frame_Shift_Ins_p.LG23fs|PAX2_ENST00000556085.1_Frame_Shift_Ins_p.LG22fs			Q02962	PAX2_HUMAN	paired box 2	23	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TGAACCAGCTCGGGGGGGTGTT	0.663													9	116	---	---	---	---					
BTRC	8945	broad.mit.edu	37	10	103310572	103310573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:103310572_103310573insC	ENST00000370187.3	+	14	1891_1892	c.1773_1774insC	c.(1771-1776)gaccccfs	p.DP591fs	BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs|BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs|BTRC_ENST00000493877.1_3'UTR	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	591					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTTC	0.431													19	356	---	---	---	---					
PPRC1	23082	broad.mit.edu	37	10	103901076	103901077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:103901076_103901077insC	ENST00000278070.2	+	5	2850_2851	c.2811_2812insC	c.(2809-2814)ctccccfs	p.LP937fs	PPRC1_ENST00000413464.2_Frame_Shift_Ins_p.LP937fs	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	937	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		ATCCTTGCCTGCCCCCCCCACC	0.604													8	56	---	---	---	---					
TRUB1	142940	broad.mit.edu	37	10	116730191	116730192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:116730191_116730192insC	ENST00000298746.3	+	5	649_650	c.588_589insC	c.(586-591)gtccccfs	p.VP196fs		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	196					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TAATGCAAGTGCCCCCCCTGTA	0.317													8	133	---	---	---	---					
SLC18A2	6571	broad.mit.edu	37	10	119014791	119014792	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:119014791_119014792insC	ENST00000298472.5	+	7	847_848	c.704_705insC	c.(703-705)gccfs	p.A235fs	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	235					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CCTGCAGTGGGCCCCCCCTTCG	0.569													11	144	---	---	---	---					
LINC00959	387723	broad.mit.edu	37	10	131905959	131905960	+	RNA	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:131905959_131905960insG	ENST00000456581.1	-	0	114																											CTTTGCCTCCAGGGGGGGAAGG	0.530													15	400	---	---	---	---					
LOC101927708	101927708	broad.mit.edu	37	11	3552650	3552651	+	RNA	INS	-	-	G	rs34642454		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:3552650_3552651insG	ENST00000527970.1	-	0	285																											CAGCACCCCATGGGGGGGCCCT	0.500													10	31	---	---	---	---					
ART5	116969	broad.mit.edu	37	11	3660979	3660980	+	Frame_Shift_Ins	INS	-	-	G	rs74708481		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:3660979_3660980insG	ENST00000397068.3	-	2	1071_1072	c.679_680insC	c.(679-681)tgafs	p.*227fs	ART5_ENST00000397067.3_Intron|ART5_ENST00000359918.4_Frame_Shift_Ins_p.*227fs	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	227						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGACTTCATGGGGGGGAATC	0.500													7	165	---	---	---	---					
OR52B6	340980	broad.mit.edu	37	11	5602545	5602546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:5602545_5602546insC	ENST00000345043.2	+	1	439_440	c.439_440insC	c.(439-441)cccfs	p.P147fs	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCATCTGCTCCCCCCTGCGA	0.510													9	816	---	---	---	---					
PAX6	5080	broad.mit.edu	37	11	31812316	31812317	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:31812316_31812317insG	ENST00000419022.1	-	13	1634_1635	c.1166_1167insC	c.(1165-1167)ccafs	p.P389fs	PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379132.3_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	375	Pro/Ser/Thr-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGTA	0.589									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				9	139	---	---	---	---					
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)gacfs	p.D101fs	PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATGA	0.520													33	1003	---	---	---	---					
LRP4	4038	broad.mit.edu	37	11	46880747	46880748	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:46880747_46880748insC	ENST00000378623.1	-	38	5746_5747	c.5504_5505insG	c.(5503-5505)gctfs	p.A1835fs	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1835					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCCGGAGGAGGCCCCCCCGTGA	0.564													15	230	---	---	---	---					
KBTBD4	55709	broad.mit.edu	37	11	47594882	47594883	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:47594882_47594883insC	ENST00000533290.1	-	3	1945_1946	c.1231_1232insG	c.(1231-1233)ggafs	p.G411fs	KBTBD4_ENST00000395288.2_Frame_Shift_Ins_p.G386fs|KBTBD4_ENST00000526005.1_Frame_Shift_Ins_p.G386fs|NDUFS3_ENST00000533507.1_Intron|PTPMT1_ENST00000527079.2_3'UTR|KBTBD4_ENST00000430070.2_Frame_Shift_Ins_p.G402fs			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	386								p.E386fs*4(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						ATCATTCTCCTCCCCCCCTAGT	0.515													23	547	---	---	---	---					
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:48328524_48328525insC	ENST00000319988.1	+	1	750_751	c.750_751insC	c.(748-753)atccccfs	p.IP250fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGTTCTCATGCCCCCCATGTT	0.480													13	731	---	---	---	---					
OR4C3	256144	broad.mit.edu	37	11	48346881	48346882	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:48346881_48346882insT	ENST00000319856.4	+	1	410_411	c.389_390insT	c.(388-390)cttfs	p.L130fs		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTTGGAGCTCATTTTTTGGGAG	0.460													8	1396	---	---	---	---					
SLC43A3	29015	broad.mit.edu	37	11	57182148	57182149	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:57182148_57182149insG	ENST00000395123.2	-	11	1303_1304	c.999_1000insC	c.(997-1002)ccggaafs	p.E334fs	SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.E334fs|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.E347fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.E334fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.E334fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	334					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						AGGCCATTCCAGGGGGCACACA	0.540													18	1954	---	---	---	---					
SLC43A3	29015	broad.mit.edu	37	11	57185234	57185235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:57185234_57185235insG	ENST00000395123.2	-	8	961_962	c.657_658insC	c.(655-660)ccactafs	p.L220fs	SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	220					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TAGCTGTAGTTGGGGGGCAGTG	0.564													11	459	---	---	---	---					
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:57505845_57505846insC	ENST00000278422.4	+	4	396_397	c.384_385insC	c.(382-387)aaccccfs	p.NP128fs	TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	128	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGACGTGCAAACCCCCCCTATA	0.421													7	391	---	---	---	---					
OR4D11	219986	broad.mit.edu	37	11	59271497	59271498	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:59271497_59271498insG	ENST00000313253.1	+	1	449_450	c.449_450insG	c.(448-450)aggfs	p.R150fs		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GCCTCTTGGATGGGGGGCTTTG	0.550													7	670	---	---	---	---					
DDB1	1642	broad.mit.edu	37	11	61094367	61094368	+	Splice_Site	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:61094367_61094368insG	ENST00000301764.7	-	5	947		c.e5-2		DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_Splice_Site	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa						cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGAGGGTCCTGGGGGGGAAAG	0.515								Nucleotide excision repair (NER)					11	264	---	---	---	---					
MYRF	745	broad.mit.edu	37	11	61536775	61536776	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:61536775_61536776insC	ENST00000278836.5	+	4	538_539	c.442_443insC	c.(442-444)cccfs	p.P148fs	MYRF_ENST00000265460.5_Frame_Shift_Ins_p.P139fs|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		CGAGGCCTACTCCCCCCAGCAG	0.678													4	6	---	---	---	---					
BSCL2	26580	broad.mit.edu	37	11	62458782	62458783	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:62458782_62458783insC	ENST00000433053.1	-	8	1530_1531	c.974_975insG	c.(973-975)gatfs	p.D325fs	BSCL2_ENST00000278893.7_Intron|BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000403550.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.D325fs|RP11-831H9.16_ENST00000403734.2_3'UTR			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	261					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GGGGCCAGATGCCCCCCCACAC	0.559													14	352	---	---	---	---					
RELA	5970	broad.mit.edu	37	11	65422045	65422046	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:65422045_65422046insG	ENST00000406246.3	-	11	1720_1721	c.1459_1460insC	c.(1459-1461)cacfs	p.H487fs	RELA_ENST00000308639.9_Frame_Shift_Ins_p.H484fs|RELA_ENST00000525693.1_3'UTR	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	487					anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						CTCAGTTGTGTGGGGGGCCACA	0.624													7	295	---	---	---	---					
YIF1A	10897	broad.mit.edu	37	11	66055104	66055105	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:66055104_66055105insG	ENST00000376901.4	-	4	575_576	c.391_392insC	c.(391-393)gcafs	p.A131fs	YIF1A_ENST00000359461.6_Frame_Shift_Ins_p.A131fs|YIF1A_ENST00000471387.2_5'UTR	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	131					protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane		p.R131L(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						GAGGTCTTGCCGGGGGGGCAGA	0.624													9	74	---	---	---	---					
DPP3	10072	broad.mit.edu	37	11	66272154	66272155	+	Frame_Shift_Ins	INS	-	-	C	rs142447712		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:66272154_66272155insC	ENST00000532677.1	+	17	2408_2409	c.2007_2008insC	c.(2005-2010)gcccccfs	p.AP669fs	DPP3_ENST00000541961.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.AP620fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.AP670fs|DPP3_ENST00000360510.2_Frame_Shift_Ins_p.AP650fs	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	650					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCACTGATGCGCCCCCCGAGTG	0.579													11	316	---	---	---	---					
CCS	9973	broad.mit.edu	37	11	66366957	66366958	+	Frame_Shift_Ins	INS	-	-	G	rs61731811	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:66366957_66366958insG	ENST00000533244.1	+	4	719_720	c.278_279insG	c.(277-279)cggfs	p.R93fs	CCS_ENST00000310190.4_Frame_Shift_Ins_p.R74fs	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	93	Superoxide dismutase-like.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GTGGCCATCCTGGGGGGGCCTG	0.644													9	131	---	---	---	---					
NDUFV1	4723	broad.mit.edu	37	11	67379629	67379630	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:67379629_67379630insG	ENST00000322776.6	+	9	1354_1355	c.1201_1202insG	c.(1201-1203)gggfs	p.G401fs	NDUFV1_ENST00000415352.2_Frame_Shift_Ins_p.G394fs|NDUFV1_ENST00000532303.1_Frame_Shift_Ins_p.G300fs|NDUFV1_ENST00000529927.1_Frame_Shift_Ins_p.G392fs	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	401					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	ACGTTTCGTGAGGGGGGATGCC	0.629													7	373	---	---	---	---					
NUMA1	4926	broad.mit.edu	37	11	71746964	71746965	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:71746964_71746965insC	ENST00000393695.3	-	3	356_357	c.25_26insG	c.(25-27)tgcfs	p.C9fs	NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.C9fs|NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.C9fs	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	9					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GAGGAGTGCAGCCCCCCGGGTG	0.505			T	RARA	APL								9	408	---	---	---	---					
LRRC32	2615	broad.mit.edu	37	11	76370771	76370772	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:76370771_76370772insC	ENST00000407242.2	-	3	2107_2108	c.1865_1866insG	c.(1864-1866)gctfs	p.A622fs	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Frame_Shift_Ins_p.A622fs|LRRC32_ENST00000260061.5_Frame_Shift_Ins_p.A622fs|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	622						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TGTTCTTCAGTCCCCCCTTCTC	0.619													7	557	---	---	---	---					
MYO7A	4647	broad.mit.edu	37	11	76873960	76873961	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:76873960_76873961insC	ENST00000409709.3	+	14	1888_1889	c.1616_1617insC	c.(1615-1617)accfs	p.T539fs	MYO7A_ENST00000458637.2_Frame_Shift_Ins_p.T539fs|MYO7A_ENST00000409893.1_Frame_Shift_Ins_p.T539fs|MYO7A_ENST00000409619.2_Frame_Shift_Ins_p.T528fs	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	539	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.K542fs*80(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCCAACTACATCCCCCCCAAGA	0.564													31	502	---	---	---	---					
PAK1	5058	broad.mit.edu	37	11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gct>g	p.DA183del	PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478													10	230	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89424222	89424223	+	RNA	INS	-	-	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:89424222_89424223insT	ENST00000532352.1	+	0	1685_1686							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GATTGTCGAGATTATGCTGTAG	0.376													51	100	---	---	---	---					
LAYN	143903	broad.mit.edu	37	11	111428362	111428363	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:111428362_111428363insA	ENST00000436913.2	+	5	721_722	c.320_321insA	c.(319-321)aaafs	p.K107fs	LAYN_ENST00000375615.3_Frame_Shift_Ins_p.K260fs|LAYN_ENST00000533265.1_Frame_Shift_Ins_p.K252fs|LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000525126.1_Frame_Shift_Ins_p.K260fs|LAYN_ENST00000375614.2_Frame_Shift_Ins_p.K252fs	NM_001258391.1	NP_001245320.1	Q6UX15	LAYN_HUMAN	layilin	260	C-type lectin.					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		TGGATCTGTAGAAAAAGGCAAG	0.441													9	2603	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:113076860_113076861insG	ENST00000316851.7	+	4	556_557	c.556_557insG	c.(556-558)gggfs	p.G186fs	NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495													15	841	---	---	---	---					
SIK3	23387	broad.mit.edu	37	11	116733010	116733011	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:116733010_116733011insC	ENST00000375300.1	-	16	1997_1998	c.1992_1993insG	c.(1990-1995)ggagatfs	p.D665fs	SIK3_ENST00000292055.4_Frame_Shift_Ins_p.D607fs|SIK3_ENST00000542607.1_Frame_Shift_Ins_p.D607fs|SIK3_ENST00000375288.1_Frame_Shift_Ins_p.E38fs|SIK3_ENST00000446921.2_Frame_Shift_Ins_p.D665fs|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_Frame_Shift_Ins_p.D506fs			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	607	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCATCAATCTGCCCCCCGTACA	0.500													11	504	---	---	---	---					
DDX6	1656	broad.mit.edu	37	11	118629613	118629614	+	Splice_Site	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:118629613_118629614insG	ENST00000264018.4	-	9	1170		c.e9-2		DDX6_ENST00000534980.1_Splice_Site|DDX6_ENST00000526070.2_Splice_Site	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL								108	1138	---	---	---	---					
CCDC153	283152	broad.mit.edu	37	11	119061042	119061043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:119061042_119061043insG	ENST00000503566.2	-	6	598_599	c.599_600insC	c.(598-600)cggfs	p.R200fs	CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.R200fs			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	200										lung(3)|stomach(1)	4						TCAAAGATCCAGGGGGGGTGAG	0.569													9	268	---	---	---	---					
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)cccfs	p.P23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A23T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCGCTGGACGCCCCCCTCTTT	0.589													10	821	---	---	---	---					
JAM3	83700	broad.mit.edu	37	11	134018467	134018468	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:134018467_134018468insG	ENST00000299106.4	+	7	897_898	c.738_739insG	c.(736-741)atggggfs	p.MG246fs	JAM3_ENST00000529443.2_Frame_Shift_Ins_p.MG291fs|JAM3_ENST00000441717.3_Frame_Shift_Ins_p.MG195fs			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	246					angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		GCGGAATTATTGGGGGGGTTCT	0.485													15	419	---	---	---	---					
NCAPD3	23310	broad.mit.edu	37	11	134048585	134048586	+	Frame_Shift_Ins	INS	-	-	G	rs138442478		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:134048585_134048586insG	ENST00000534548.2	-	22	2789_2790	c.2725_2726insC	c.(2725-2727)ggtfs	p.G909fs		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	909					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.Q909fs*12(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCTCTGACCTGGGGGGGTGGC	0.525													10	176	---	---	---	---					
PRMT8	56341	broad.mit.edu	37	12	3701465	3701466	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:3701465_3701466insG	ENST00000382622.3	+	9	1438_1439	c.1048_1049insG	c.(1048-1050)gggfs	p.G350fs	PRMT8_ENST00000452611.2_Frame_Shift_Ins_p.G341fs|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	350					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CACTGTCCGGAGGGGGGAGGAA	0.550													8	487	---	---	---	---					
VWF	7450	broad.mit.edu	37	12	6091108	6091109	+	Frame_Shift_Ins	INS	-	-	G	rs61750632		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:6091108_6091109insG	ENST00000261405.5	-	42	7384_7385	c.7130_7131insC	c.(7129-7131)ccafs	p.P2377fs		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2377					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.P2377P(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCAAACGGTGCGGGGGGCAGGA	0.604													7	663	---	---	---	---					
VWF	7450	broad.mit.edu	37	12	6153463	6153464	+	Frame_Shift_Ins	INS	-	-	G	rs137990643	by1000genomes	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:6153463_6153464insG	ENST00000261405.5	-	18	2689_2690	c.2435_2436insC	c.(2434-2436)cggfs	p.R812fs		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	812	E1.|TIL 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCACCATGCCCGGGGGGCAGAG	0.594													13	408	---	---	---	---					
VWF	7450	broad.mit.edu	37	12	6161796	6161797	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:6161796_6161797insC	ENST00000261405.5	-	16	2352_2353	c.2098_2099insG	c.(2098-2100)ctgfs	p.L700fs		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	700	TIL 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGGCACGCAGTCCCCCCTCTCA	0.589													7	478	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6923985	6923986	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:6923985_6923986insC	ENST00000011653.4	+	5	692_693	c.434_435insC	c.(433-435)accfs	p.T145fs	CD4_ENST00000541982.1_Frame_Shift_Ins_p.T90fs|CD4_ENST00000538827.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	145	Ig-like C2-type 1.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				ACCTTGGAGAGCCCCCCTGGTA	0.579													7	1120	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-492)cggfs	p.R164fs	CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs|CD4_ENST00000538827.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAGA	0.564													24	627	---	---	---	---					
C1S	716	broad.mit.edu	37	12	7171652	7171653	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:7171652_7171653insC	ENST00000406697.1	+	8	1101_1102	c.473_474insC	c.(472-474)tccfs	p.S158fs	C1S_ENST00000328916.3_Frame_Shift_Ins_p.S158fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.S158fs|C1S_ENST00000402681.3_5'UTR			P09871	C1S_HUMAN	complement component 1, s subcomponent	158	EGF-like; calcium-binding.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTCTGCTCCTGCCCCCCGGAAT	0.455													8	645	---	---	---	---					
C1S	716	broad.mit.edu	37	12	7177938	7177939	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:7177938_7177939insC	ENST00000406697.1	+	15	2678_2679	c.2050_2051insC	c.(2050-2052)cccfs	p.P684fs	C1S_ENST00000328916.3_Frame_Shift_Ins_p.P684fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.P684fs|C1S_ENST00000402681.3_Frame_Shift_Ins_p.P517fs			P09871	C1S_HUMAN	complement component 1, s subcomponent	684					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGAAAATAGCACCCCCCGTGAG	0.490													7	478	---	---	---	---					
TAS2R43	259289	broad.mit.edu	37	12	11243945	11243946	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:11243945_11243946insA	ENST00000531678.1	-	1	966_967	c.883_884insT	c.(883-885)gcafs	p.A295fs	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	295					detection of chemical stimulus involved in sensory perception of bitter taste	cilium membrane|motile cilium	bitter taste receptor activity			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		CCTCATTTGCCAAAAAACTGAA	0.416													8	508	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:13142224_13142225insC	ENST00000536942.1	-	2	353_354	c.203_204insG	c.(202-204)gacfs	p.D68fs	HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs			Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554													18	1072	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:14019043_14019044insG	ENST00000279593.3	-	2	308_309	c.99_100insC	c.(97-102)ccgcatfs	p.H34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCCAATGCTGGGGGGGCTCT	0.589													11	245	---	---	---	---					
GUCY2C	2984	broad.mit.edu	37	12	14825856	14825857	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:14825856_14825857insC	ENST00000261170.3	-	9	1256_1257	c.1120_1121insG	c.(1120-1122)tgtfs	p.C374fs	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	374					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						ACTGTCAACATCCCCCCAGTCA	0.470													10	595	---	---	---	---					
AAAS	8086	broad.mit.edu	37	12	53715141	53715142	+	Frame_Shift_Ins	INS	-	-	G	rs138043864		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:53715141_53715142insG	ENST00000209873.4	-	1	273_274	c.108_109insC	c.(106-111)ccacttfs	p.L37fs	AAAS_ENST00000550286.1_Intron|AAAS_ENST00000549983.1_Intron|AAAS_ENST00000394384.3_Frame_Shift_Ins_p.L37fs	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	37					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CCCCGGAAGTCGGGGGGCGGGC	0.653													10	349	---	---	---	---					
AMHR2	269	broad.mit.edu	37	12	53819644	53819645	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:53819644_53819645insG	ENST00000257863.4	+	6	873_874	c.793_794insG	c.(793-795)gggfs	p.G265fs	AMHR2_ENST00000550311.1_Frame_Shift_Ins_p.G265fs|AMHR2_ENST00000379791.3_Frame_Shift_Ins_p.G265fs	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	265	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	p.R265W(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CACTGCCAGCCGGGGGGGTCCT	0.579													7	129	---	---	---	---					
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:55421127_55421128insC	ENST00000242994.3	+	2	1282_1283	c.904_905insC	c.(904-906)cccfs	p.P302fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	302					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAGGCTGGTACCCCCCGTTAT	0.465													14	2479	---	---	---	---					
DNAJC14	85406	broad.mit.edu	37	12	56222209	56222210	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:56222209_56222210insG	ENST00000357606.3	-	3	522_523	c.233_234insC	c.(232-234)cggfs	p.R78fs	DNAJC14_ENST00000317269.3_Frame_Shift_Ins_p.R78fs|DNAJC14_ENST00000317287.5_Frame_Shift_Ins_p.R78fs			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	78					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CTGGACCCCCTGGGGGGCCATG	0.559													7	406	---	---	---	---					
CDK2	1017	broad.mit.edu	37	12	56363264	56363265	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:56363264_56363265delGA	ENST00000266970.4	+	5	732_733	c.492_493delGA	c.(490-495)gtccfs	p.VT164fs	CDK2_ENST00000553376.1_Frame_Shift_Del_p.VT164fs|CDK2_ENST00000354056.4_Intron|CDK2_ENST00000440311.2_Intron|CDK2_ENST00000556656.1_3'UTR	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	cyclin-dependent kinase 2	164	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol	ATP binding|cyclin-dependent protein kinase activity|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			CTCAGGTGGTGACCCTGTGGTA	0.535													36	173	---	---	---	---					
IKZF4	64375	broad.mit.edu	37	12	56429092	56429093	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:56429092_56429093insG	ENST00000262032.5	+	12	2102_2103	c.1735_1736insG	c.(1735-1737)gggfs	p.G579fs	RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.G534fs|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.G579fs|IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.G477fs			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	579					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCACATTGTCCGGGGGGAGCAT	0.554													17	973	---	---	---	---					
PA2G4	5036	broad.mit.edu	37	12	56505301	56505302	+	Frame_Shift_Ins	INS	-	-	A	rs149549286	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:56505301_56505302insA	ENST00000303305.6	+	12	1526_1527	c.1107_1108insA	c.(1105-1110)aaaaaafs	p.KK369fs	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Intron	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	369	Interaction with RNA (By similarity).|Necessary for nucleolar localization.				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			CCCAGAAAAAGAAAAAAAAGAA	0.386													7	450	---	---	---	---					
SMARCC2	6601	broad.mit.edu	37	12	56558259	56558260	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:56558259_56558260insG	ENST00000550164.1	-	28	3502_3503	c.3488_3489insC	c.(3487-3489)cccfs	p.P1163fs	SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.P1132fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron			Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1132	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GCAGGTTAGGTGGGGGGAGAGT	0.614													8	673	---	---	---	---					
COQ10A	93058	broad.mit.edu	37	12	56662853	56662853	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:56662853delC	ENST00000308197.5	+	3	553	c.292delC	c.(292-294)agfs	p.Q98fs	RP11-977G19.14_ENST00000546464.1_RNA|COQ10A_ENST00000546544.1_Frame_Shift_Del_p.Q81fs|COQ10A_ENST00000433805.2_Frame_Shift_Del_p.Q66fs	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	98						mitochondrial inner membrane				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						GTACTCAATGCAGGAGATGTA	0.507													23	471	---	---	---	---					
ZBTB39	9880	broad.mit.edu	37	12	57396635	57396636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:57396635_57396636insG	ENST00000300101.2	-	2	2151_2152	c.2066_2067insC	c.(2065-2067)cgafs	p.R689fs		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	689			P -> A (in dbSNP:rs3741576).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TGGTGAAGTCAGGGGGGAGGCT	0.569													7	637	---	---	---	---					
MYO1A	4640	broad.mit.edu	37	12	57422572	57422573	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:57422572_57422573insT	ENST00000442789.2	-	29	3385_3386	c.3098_3099insA	c.(3097-3099)aggfs	p.R1033fs	TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000544473.1_Frame_Shift_Ins_p.R871fs|MYO1A_ENST00000300119.3_Frame_Shift_Ins_p.R1033fs	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	1033					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.?(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AATGACTCCCCTTTTTTTTGTA	0.559													8	584	---	---	---	---					
STAT6	6778	broad.mit.edu	37	12	57499093	57499094	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:57499093_57499094insG	ENST00000300134.3	-	9	1166_1167	c.841_842insC	c.(841-843)ggtfs	p.G281fs	STAT6_ENST00000537215.2_Frame_Shift_Ins_p.G171fs|STAT6_ENST00000556155.1_Frame_Shift_Ins_p.G281fs|STAT6_ENST00000538913.2_Frame_Shift_Ins_p.G171fs|STAT6_ENST00000454075.3_Frame_Shift_Ins_p.G281fs|STAT6_ENST00000543873.2_Frame_Shift_Ins_p.G281fs	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	281					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CTTCAGTACCTGGGGGGGCTGC	0.639													7	159	---	---	---	---					
LRP1	4035	broad.mit.edu	37	12	57572241	57572242	+	Frame_Shift_Ins	INS	-	-	G	rs139915490		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:57572241_57572242insG	ENST00000243077.3	+	27	4927_4928	c.4461_4462insG	c.(4459-4464)taggggfs	p.*G1487fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1487					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACGCTGTACGGGGGGGAGGT	0.589													19	275	---	---	---	---					
R3HDM2	22864	broad.mit.edu	37	12	57674205	57674207	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:57674205_57674207delTGC	ENST00000402412.1	-	14	1668_1670	c.1278_1280delGCA	c.(1276-1281)caa>ca	p.QQ426del	R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del|R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000393811.2_In_Frame_Del_p.QQ139del			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	412	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGCAGGAAGTtgctgctgctgct	0.576													12	459	---	---	---	---					
DCTN2	10540	broad.mit.edu	37	12	57927805	57927806	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:57927805_57927806insG	ENST00000548249.1	-	7	866_867	c.599_600insC	c.(598-600)cgafs	p.R200fs	DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.R177fs|DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.R205fs	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	200					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						GGCTGCTATCTGGGGGGGTCCC	0.500													7	209	---	---	---	---					
ARHGEF25	115557	broad.mit.edu	37	12	58006824	58006825	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:58006824_58006825insC	ENST00000286494.4	+	2	669_670	c.209_210insC	c.(208-210)gccfs	p.A70fs	ARHGEF25_ENST00000333972.7_Frame_Shift_Ins_p.A109fs|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	70					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						TGTTCCCCAGGCCCCCCAGGGC	0.619													13	1042	---	---	---	---					
METTL21B	25895	broad.mit.edu	37	12	58174036	58174037	+	Splice_Site	INS	-	-	G	rs143311691		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:58174036_58174037insG	ENST00000333012.5	+	4	475		c.e4-1		METTL21B_ENST00000551420.1_Splice_Site|RP11-571M6.15_ENST00000471530.1_Intron|METTL21B_ENST00000300209.8_Splice_Site|RP11-571M6.15_ENST00000553083.1_Intron|METTL21B_ENST00000548256.1_Splice_Site	NM_206914.1	NP_996797.1	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							integral to membrane|intracellular	methyltransferase activity			endometrium(1)|lung(1)	2						CCTCTCTCTCAGGGGGGGATGT	0.584													8	431	---	---	---	---					
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:69233089_69233090insC	ENST00000462284.1	+	11	1256_1257	c.954_955insC	c.(952-957)aaccccfs	p.NP318fs	MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000544561.1_Intron	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	312	Necessary for interaction with USP2.|Region II.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""								11	404	---	---	---	---					
FRS2	10818	broad.mit.edu	37	12	69965989	69965989	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:69965989delT	ENST00000299293.2	+	9	1014	c.504delT	c.(502-504)ccfs	p.P168fs	FRS2_ENST00000397997.2_Frame_Shift_Del_p.P168fs|FRS2_ENST00000550389.1_Frame_Shift_Del_p.P168fs|FRS2_ENST00000549921.1_Frame_Shift_Del_p.P168fs	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	168					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GCAGACATCCTTCTGTGGGAA	0.478													89	328	---	---	---	---					
BEST3	144453	broad.mit.edu	37	12	70049361	70049362	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:70049361_70049362insG	ENST00000330891.5	-	10	1558_1559	c.1332_1333insC	c.(1330-1335)ccgggcfs	p.PG444fs	BEST3_ENST00000553096.1_Frame_Shift_Ins_p.PG338fs|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs|BEST3_ENST00000331471.4_Intron	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	444						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTGAGGCCCTGGGGGGGTTTC	0.594													10	427	---	---	---	---					
C12orf42	374470	broad.mit.edu	37	12	103695959	103695960	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:103695959_103695960insG	ENST00000548048.1	-	9	1304_1305	c.808_809insC	c.(808-810)cccfs	p.P270fs	C12orf42_ENST00000548883.1_Frame_Shift_Ins_p.P337fs|C12orf42_ENST00000378113.2_Frame_Shift_Ins_p.P337fs|C12orf42_ENST00000315192.8_Intron			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	337										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CCGGGTTGGGCGGGGGGGTGCT	0.584													12	330	---	---	---	---					
USP30	84749	broad.mit.edu	37	12	109495864	109495865	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:109495864_109495865insC	ENST00000257548.5	+	3	420_421	c.327_328insC	c.(325-330)gaccccfs	p.DP109fs	USP30_ENST00000392784.2_Frame_Shift_Ins_p.DP78fs	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	109					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ATCAGAAGGAGCCCCCCTCACA	0.485													7	789	---	---	---	---					
UBE3B	89910	broad.mit.edu	37	12	109939222	109939223	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:109939222_109939223insG	ENST00000342494.3	+	13	1760_1761	c.1165_1166insG	c.(1165-1167)gggfs	p.G389fs	UBE3B_ENST00000280774.5_Frame_Shift_Ins_p.G389fs|UBE3B_ENST00000434735.2_Frame_Shift_Ins_p.G389fs	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	389					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GCAGTTCTTGTGGGGGGTGCCT	0.554													15	1150	---	---	---	---					
HECTD4	283450	broad.mit.edu	37	12	112690348	112690349	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:112690348_112690349insG	ENST00000377560.5	-	22	3310_3311	c.2915_2916insC	c.(2914-2916)ctcfs	p.L972fs	HECTD4_ENST00000550722.1_Intron|HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.L722fs					HECT domain containing E3 ubiquitin protein ligase 4																		AATTTAAGGAAGGGGGGGAAAT	0.396													8	506	---	---	---	---					
PRKAB1	5564	broad.mit.edu	37	12	120110200	120110201	+	Frame_Shift_Ins	INS	-	-	G	rs115821895	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:120110200_120110201insG	ENST00000229328.5	+	2	746_747	c.254_255insG	c.(253-255)aggfs	p.R85fs	PRKAB1_ENST00000540121.1_5'UTR|PRKAB1_ENST00000541640.1_Frame_Shift_Ins_p.R85fs	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	85					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol				endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	TTTCGATGGACGGGGGGCGGAA	0.520													7	500	---	---	---	---					
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:120800902_120800903insC	ENST00000257552.2	-	6	433_434	c.345_346insG	c.(343-348)ggtgtcfs	p.V116fs		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	116	RRM 2.				nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACCGACAGCCCCCCCACAA	0.564													24	512	---	---	---	---					
POLE	5426	broad.mit.edu	37	12	133245023	133245024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:133245023_133245024insG	ENST00000320574.5	-	19	2134_2135	c.2091_2092insC	c.(2089-2094)cctgttfs	p.V698fs	POLE_ENST00000535270.1_Frame_Shift_Ins_p.V671fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	698					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCTGGGAACAAGGGGGGGAACT	0.599								DNA polymerases (catalytic subunits)					14	474	---	---	---	---					
PXMP2	5827	broad.mit.edu	37	12	133277869	133277870	+	Frame_Shift_Ins	INS	-	-	G	rs141115887	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:133277869_133277870insG	ENST00000545677.1	+	3	250_251	c.47_48insG	c.(46-48)gggfs	p.G16fs	PXMP2_ENST00000539093.1_Frame_Shift_Ins_p.G16fs|PXMP2_ENST00000428960.2_Frame_Shift_Ins_p.G52fs|RP13-672B3.2_ENST00000537262.1_Frame_Shift_Ins_p.G16fs|PXMP2_ENST00000317479.3_Frame_Shift_Ins_p.G145fs|PXMP2_ENST00000543589.1_Intron			Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	0						integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		CGCCAAGATGAGGGGGGGCTTC	0.614													10	330	---	---	---	---					
ALG11	440138	broad.mit.edu	37	13	52602503	52602504	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr13:52602503_52602504insG	ENST00000521508.1	+	4	1261_1262	c.1256_1257insG	c.(1255-1257)tggfs	p.W419fs	UTP14C_ENST00000521776.2_5'UTR|ALG11_ENST00000519151.1_3'UTR|ALG11_ENST00000523764.1_Frame_Shift_Ins_p.LG31fs	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase									p.S419S(1)		endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		GCACACAATTCGGGGGGCCCAA	0.426													8	339	---	---	---	---					
MBNL2	10150	broad.mit.edu	37	13	97928603	97928604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr13:97928603_97928604insC	ENST00000345429.6	+	2	895_896	c.114_115insC	c.(112-117)caccccfs	p.HP38fs	MBNL2_ENST00000397601.1_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000343600.4_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000376673.3_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000445661.2_Frame_Shift_Ins_p.HP38fs	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	38					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			AATTTGCTCATCCCCCCAAAAG	0.411													8	396	---	---	---	---					
TEP1	7011	broad.mit.edu	37	14	20846337	20846338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:20846337_20846338insC	ENST00000262715.5	-	39	5606_5607	c.5566_5567insG	c.(5566-5568)tgtfs	p.C1856fs	TEP1_ENST00000545983.1_Frame_Shift_Ins_p.C194fs|TEP1_ENST00000556935.1_Frame_Shift_Ins_p.C1748fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1856					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CACAGCCACAACCCCCCCAGGC	0.624													9	140	---	---	---	---					
TEP1	7011	broad.mit.edu	37	14	20852646	20852647	+	Frame_Shift_Ins	INS	-	-	C	rs144584331		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:20852646_20852647insC	ENST00000262715.5	-	23	3282_3283	c.3242_3243insG	c.(3241-3243)ggtfs	p.G1081fs	TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G973fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1081					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.V1082fs*47(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGCTGCCACACCCCCCCACTC	0.584													16	350	---	---	---	---					
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:21820849_21820850insG	ENST00000216297.2	-	26	3464_3465	c.3126_3127insC	c.(3124-3129)ccagaafs	p.E1043fs		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	1043					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCTTTTTCTTGGGGGGTGCAG	0.480													10	403	---	---	---	---					
ACIN1	22985	broad.mit.edu	37	14	23549377	23549378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:23549377_23549378insG	ENST00000262710.1	-	6	1667_1668	c.1340_1341insC	c.(1339-1341)ggtfs	p.G447fs	ACIN1_ENST00000605057.1_Frame_Shift_Ins_p.G389fs|ACIN1_ENST00000555053.1_Frame_Shift_Ins_p.G447fs|ACIN1_ENST00000457657.1_Frame_Shift_Ins_p.G407fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	447			A -> P (in dbSNP:rs941719).		apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GAATGAGGACAGCGGGGGCTGG	0.500													7	236	---	---	---	---					
CTSG	1511	broad.mit.edu	37	14	25042847	25042848	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:25042847_25042848insG	ENST00000216336.2	-	5	799_800	c.763_764insC	c.(763-765)gtgfs	p.V255fs		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	255					immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		AGTCAGTCACAGGGGGGTCTCC	0.490													7	592	---	---	---	---					
GALNT16	57452	broad.mit.edu	37	14	69800299	69800300	+	Frame_Shift_Ins	INS	-	-	G	rs144140025		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:69800299_69800300insG	ENST00000337827.4	+	9	1276_1277	c.949_950insG	c.(949-951)gggfs	p.G317fs	GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.G317fs|GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.G317fs	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		GATGGACATCTGGGGGGGAGAG	0.470													14	328	---	---	---	---					
RP11-991C1.2	0	broad.mit.edu	37	14	95516588	95516610	+	RNA	DEL	GGAAGGAAGGAAGGAAAGAAGAA	GGAAGGAAGGAAGGAAAGAAGAA	-	rs36211516	by1000genomes	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:95516588_95516610delGGAAGGAAGGAAGGAAAGAAGAA	ENST00000554033.1	+	0	41																											aagaaggaagggaaggaaggaaggaaagaagaaggaaggaagg	0.448													5	9	---	---	---	---					
IGHG2	3501	broad.mit.edu	37	14	106110246	106110247	+	RNA	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:106110246_106110247insG	ENST00000390545.2	-	0	370_371																											CCTTGGGTTTTGGGGGGAAGAG	0.619													12	680	---	---	---	---					
IGHV4-39	28394	broad.mit.edu	37	14	106877817	106877819	+	RNA	DEL	ACT	ACT	-	rs113800876		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:106877817_106877819delACT	ENST00000390619.2	-	0	224_226																											CCCAGTAGTAACTACTACTGCTG	0.596													27	30	---	---	---	---					
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)gggfs	p.G150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.500													25	657	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25227110	25227110	+	RNA	DEL	A	A	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:25227110delA	ENST00000551631.2	+	0	413					NR_001293.1																						TTATAAAGAGAAATAAGCATA	0.373													15	337	---	---	---	---					
HERC2	8924	broad.mit.edu	37	15	28478873	28478874	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:28478873_28478874insG	ENST00000261609.7	-	28	4395_4396	c.4287_4288insC	c.(4285-4290)ccagcafs	p.A1430fs		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1430					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.P1429P(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACGGGATGCTCGGGGGGAAACA	0.450													8	279	---	---	---	---					
EIF2AK4	440275	broad.mit.edu	37	15	40282507	40282508	+	Frame_Shift_Ins	INS	-	-	T	rs35250897		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:40282507_40282508insT	ENST00000263791.5	+	16	2603_2604	c.2560_2561insT	c.(2560-2562)tttfs	p.F854fs	EIF2AK4_ENST00000382727.2_Frame_Shift_Ins_p.F826fs	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	854	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GCCTGTCAACATTTTTTTGGAT	0.356													10	351	---	---	---	---					
CEP152	22995	broad.mit.edu	37	15	49030559	49030560	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:49030559_49030560insT	ENST00000380950.2	-	27	5206_5207	c.5019_5020insA	c.(5017-5022)aatgagfs	p.NE1673fs	CEP152_ENST00000399334.3_Frame_Shift_Ins_p.NE1617fs	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1617					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GTACTGCTCAGTTTTTTGAAAT	0.406													7	316	---	---	---	---					
PRTG	283659	broad.mit.edu	37	15	55912218	55912219	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:55912218_55912219insG	ENST00000389286.4	-	20	3491_3492	c.3444_3445insC	c.(3442-3447)ccacctfs	p.P1149fs		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	1149					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AATCAGAGGTTGGGGGGTGTGG	0.490													7	233	---	---	---	---					
HERC1	8925	broad.mit.edu	37	15	63918305	63918306	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:63918305_63918306insG	ENST00000443617.2	-	71	13240_13241	c.13153_13154insC	c.(13153-13155)gtafs	p.V4385fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4385					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGCCCCATACTGGGGGGGCACT	0.559													20	179	---	---	---	---					
SRRM2	23524	broad.mit.edu	37	16	2815060	2815061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:2815060_2815061insC	ENST00000301740.8	+	11	5080_5081	c.4531_4532insC	c.(4531-4533)cccfs	p.P1511fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1511	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAAGTGTCTTACCCCCCAGAGA	0.525													12	912	---	---	---	---					
SLX4	84464	broad.mit.edu	37	16	3634840	3634841	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:3634840_3634841insG	ENST00000294008.3	-	13	5308_5309	c.4668_4669insC	c.(4666-4671)ccaagtfs	p.S1557fs		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1557	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ATGGGCACTTTGGGGGGCAAGT	0.500								Direct reversal of damage					11	820	---	---	---	---					
MGRN1	23295	broad.mit.edu	37	16	4700413	4700414	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:4700413_4700414insC	ENST00000399577.5	+	2	229_230	c.136_137insC	c.(136-138)cccfs	p.P46fs	MGRN1_ENST00000262370.7_Frame_Shift_Ins_p.P46fs|MGRN1_ENST00000415496.1_Frame_Shift_Ins_p.P46fs|MGRN1_ENST00000586183.1_Frame_Shift_Ins_p.P46fs|MGRN1_ENST00000588994.1_Frame_Shift_Ins_p.P46fs	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	46					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						GAAATTCGACACCCCCCACCCT	0.465													43	1739	---	---	---	---					
UBN1	29855	broad.mit.edu	37	16	4910691	4910693	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:4910691_4910693delAGA	ENST00000396658.4	+	6	1401_1403	c.698_700delAGA	c.(697-702)gag>g	p.EK233del	UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del|UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del|UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	233	Lys-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	p.K234E(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GCCAGTAAGGAGAAGAAGAAGAA	0.453													10	824	---	---	---	---					
SNX29	92017	broad.mit.edu	37	16	12162916	12162917	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:12162916_12162917insC	ENST00000566228.1	+	10	1315_1316	c.1246_1247insC	c.(1246-1248)cccfs	p.P416fs	SNX29_ENST00000323433.4_Frame_Shift_Ins_p.P31fs|SNX29_ENST00000306030.3_Frame_Shift_Ins_p.P31fs	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	31					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CTGCACAGATGCCCCCCTCGGA	0.495													10	573	---	---	---	---					
MKL2	57496	broad.mit.edu	37	16	14346299	14346300	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:14346299_14346300insC	ENST00000571589.1	+	15	2815_2816	c.2643_2644insC	c.(2641-2646)gaccccfs	p.DP881fs	MKL2_ENST00000341243.5_Frame_Shift_Ins_p.DP870fs|MKL2_ENST00000318282.5_Frame_Shift_Ins_p.DP831fs|MKL2_ENST00000574045.1_Frame_Shift_Ins_p.DP831fs	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	870					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGACAAAAGATCCCCCCCGCTA	0.564													8	361	---	---	---	---					
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3300)tccfs	p.S1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475													16	1693	---	---	---	---					
ACSM2A	123876	broad.mit.edu	37	16	20489924	20489925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:20489924_20489925insC	ENST00000573854.1	+	10	1320_1321	c.1206_1207insC	c.(1204-1209)ctccccfs	p.LP402fs	ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.LP323fs|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.LP174fs|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.LP402fs	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	402					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCAACGTCCTGCCCCCCGGCAC	0.505													10	336	---	---	---	---					
ACSM2B	348158	broad.mit.edu	37	16	20556547	20556548	+	Frame_Shift_Ins	INS	-	-	G	rs146499503		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:20556547_20556548insG	ENST00000329697.6	-	10	1380_1381	c.1212_1213insC	c.(1210-1215)ccgcacfs	p.H405fs	ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs|ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	405					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTTCTGTGCCGGGGGGCAGGA	0.515													8	449	---	---	---	---					
DNAH3	55567	broad.mit.edu	37	16	21063027	21063028	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:21063027_21063028insG	ENST00000261383.3	-	29	4200_4201	c.4201_4202insC	c.(4201-4203)gctfs	p.A1401fs	DNAH3_ENST00000415178.1_Frame_Shift_Ins_p.A1401fs	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1401	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GATCACCAGCCGGGGGGAGTTT	0.569													19	602	---	---	---	---					
EEF2K	29904	broad.mit.edu	37	16	22262605	22262606	+	Frame_Shift_Ins	INS	-	-	G	rs139820091		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:22262605_22262606insG	ENST00000263026.5	+	6	1054_1055	c.580_581insG	c.(580-582)gggfs	p.G194fs		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	194	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GGCCAAGCTCTGGGGGGAGGAG	0.619													8	201	---	---	---	---					
POLR3E	55718	broad.mit.edu	37	16	22339833	22339834	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:22339833_22339834insC	ENST00000299853.5	+	19	2036_2037	c.1869_1870insC	c.(1867-1872)ttccccfs	p.FP623fs	POLR3E_ENST00000359210.4_Frame_Shift_Ins_p.FP623fs|POLR3E_ENST00000418581.2_Frame_Shift_Ins_p.FP587fs|POLR3E_ENST00000564209.1_Frame_Shift_Ins_p.FP623fs	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	623					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		TTGGTCAGTTTCCCCCCCAGAC	0.574													11	243	---	---	---	---					
TNRC6A	27327	broad.mit.edu	37	16	24804889	24804890	+	Frame_Shift_Ins	INS	-	-	G	rs139796934		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:24804889_24804890insG	ENST00000395799.3	+	7	3400_3401	c.3271_3272insG	c.(3271-3273)gggfs	p.G1091fs	TNRC6A_ENST00000315183.7_Frame_Shift_Ins_p.G1091fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1091	Sufficient for interaction with EIF2C1 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGGTCCCAGCTGGGGGGAACCC	0.550													7	456	---	---	---	---					
TNRC6A	27327	broad.mit.edu	37	16	24807240	24807240	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:24807240delA	ENST00000395799.3	+	9	3670	c.3541delA	c.(3541-3543)aafs	p.K1182fs	TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1182	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCTGAGTGGCAAAAAAAGGAG	0.398													7	368	---	---	---	---					
ARHGAP17	55114	broad.mit.edu	37	16	24942179	24942180	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:24942179_24942180insG	ENST00000289968.6	-	19	2509_2510	c.2440_2441insC	c.(2440-2442)accfs	p.T814fs	ARHGAP17_ENST00000303665.5_Frame_Shift_Ins_p.T736fs|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	814	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		ACCAGGAGGTTGGGGGGGTGGG	0.574													10	175	---	---	---	---					
MVP	9961	broad.mit.edu	37	16	29855917	29855918	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:29855917_29855918insG	ENST00000357402.5	+	11	1876_1877	c.1738_1739insG	c.(1738-1740)gggfs	p.G580fs	MVP_ENST00000395353.1_Frame_Shift_Ins_p.G580fs	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	580					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						ATCCCGGGTGCGGGGGGCCGTG	0.569													9	477	---	---	---	---					
TBX6	6911	broad.mit.edu	37	16	30100077	30100078	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:30100077_30100078insC	ENST00000553607.1	-	4	1397_1398	c.704_705insG	c.(703-705)gatfs	p.D235fs	TBX6_ENST00000395224.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000279386.2_Frame_Shift_Ins_p.D235fs			O95947	TBX6_HUMAN	T-box 6	235					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						AGGAGGCCATGCCCCCCCAGTG	0.629													24	393	---	---	---	---					
PRSS8	5652	broad.mit.edu	37	16	31143765	31143766	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:31143765_31143766insC	ENST00000317508.6	-	5	952_953	c.689_690insG	c.(688-690)gaafs	p.E230fs	PRSS8_ENST00000568261.1_Frame_Shift_Ins_p.E176fs	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	230	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						AGGCGTCCTTGCCCCCCTCCAC	0.609													7	272	---	---	---	---					
SLC5A2	6524	broad.mit.edu	37	16	31498692	31498693	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:31498692_31498693insG	ENST00000330498.3	+	6	645_646	c.626_627insG	c.(625-627)cggfs	p.R209fs	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	209					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						TTCGTCATTCTGGGGGGCGCCT	0.678													12	270	---	---	---	---					
NOD2	64127	broad.mit.edu	37	16	50745330	50745331	+	Frame_Shift_Ins	INS	-	-	G	rs104895434		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:50745330_50745331insG	ENST00000300589.2	+	4	1613_1614	c.1508_1509insG	c.(1507-1509)gggfs	p.G503fs		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	503	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TTGCTGCAGGAGGGGGGGTCCC	0.574													8	186	---	---	---	---					
MT4	84560	broad.mit.edu	37	16	56602768	56602769	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:56602768_56602769insC	ENST00000219162.3	+	3	193_194	c.113_114insC	c.(112-114)tccfs	p.S38fs		NM_032935.2	NP_116324.1	P47944	MT4_HUMAN	metallothionein 4	38						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGCT	0.599													32	1001	---	---	---	---					
CNGB1	1258	broad.mit.edu	37	16	57938727	57938728	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:57938727_57938728insC	ENST00000564448.1	-	26	2586_2587	c.2526_2527insG	c.(2524-2529)ggtgccfs	p.A843fs	CNGB1_ENST00000251102.8_Frame_Shift_Ins_p.A849fs			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	849					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGGTCAGGCAGCCCCCCGATGG	0.510													8	317	---	---	---	---					
SLC9A5	6553	broad.mit.edu	37	16	67300017	67300019	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:67300017_67300019delGAG	ENST00000299798.11	+	15	2172_2174	c.2107_2109delGAG	c.(2107-2109)del	p.E708del		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	708					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGTGGAGTCTGAGGAGGAGGAGG	0.571													8	420	---	---	---	---					
KCTD19	146212	broad.mit.edu	37	16	67327838	67327839	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:67327838_67327839insG	ENST00000304372.5	-	12	1881_1882	c.1826_1827insC	c.(1825-1827)caafs	p.Q609fs		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	609						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		ATTTCTTCTTTGGGGGGCTCTC	0.545													9	239	---	---	---	---					
NOB1	28987	broad.mit.edu	37	16	69782978	69782980	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:69782978_69782980delTCC	ENST00000268802.5	-	6	596_598	c.567_569delGGA	c.(565-570)gaa>ga	p.EE189del		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	189	Poly-Glu.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGTTTTCTTCCTCCTCCTCCT	0.522													9	473	---	---	---	---					
HYDIN	54768	broad.mit.edu	37	16	70934982	70934983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:70934982_70934983insG	ENST00000393567.2	-	53	9122_9123	c.8972_8973insC	c.(8971-8973)cgafs	p.R2991fs		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2991										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACTCAGCCTCAGGGGGGATGGT	0.574													11	1201	---	---	---	---					
MARVELD3	91862	broad.mit.edu	37	16	71668195	71668196	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:71668195_71668196insG	ENST00000268485.3	+	3	739_740	c.695_696insG	c.(694-696)tggfs	p.W232fs	MARVELD3_ENST00000567501.1_Frame_Shift_Ins_p.LG45fs|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	232	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				ATCACCAGCTTGGGGGGCATTT	0.559													10	328	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72991757	72991758	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:72991757_72991758insC	ENST00000268489.5	-	2	2959_2960	c.2287_2288insG	c.(2287-2289)gcafs	p.A763fs	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	763					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GAAGACCTGCTCCCCCCCTCCA	0.624													7	118	---	---	---	---					
FA2H	79152	broad.mit.edu	37	16	74752942	74752943	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:74752942_74752943insG	ENST00000219368.3	-	5	798_799	c.729_730insC	c.(727-732)ccgcgafs	p.R244fs	FA2H_ENST00000544337.1_Frame_Shift_Ins_p.R31fs	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	244					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TAGCTGTCGCTGGGGGGCTTCA	0.614													8	368	---	---	---	---					
PAFAH1B1	5048	broad.mit.edu	37	17	2583499	2583500	+	Frame_Shift_Ins	INS	-	-	G	rs113994201		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:2583499_2583500insG	ENST00000397195.5	+	10	1495_1496	c.1044_1045insG	c.(1042-1047)tcggggfs	p.SG348fs	PAFAH1B1_ENST00000397193.3_3'UTR|PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.SG143fs	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	348	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TGTTCCATTCTGGGGGGAAGTT	0.401													7	359	---	---	---	---					
ALOX12	239	broad.mit.edu	37	17	6903739	6903740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:6903739_6903740insC	ENST00000251535.6	+	7	945_946	c.892_893insC	c.(892-894)cccfs	p.P298fs	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000575727.1_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	298	Lipoxygenase.		A -> T.		anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATACCTGGCTGCCCCCCTCGTT	0.554													17	764	---	---	---	---					
PLSCR3	57048	broad.mit.edu	37	17	7294058	7294059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:7294058_7294059insC	ENST00000535512.1	-	10	1742_1743	c.725_726insG	c.(724-726)gctfs	p.A242fs	PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000576362.1_Frame_Shift_Ins_p.A218fs|C17orf61-PLSCR3_ENST00000573331.1_3'UTR|PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.A242fs			Q9NRY6	PLS3_HUMAN	phospholipid scramblase 3	242					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding			endometrium(1)|kidney(2)|urinary_tract(1)	4		Prostate(122;0.173)				CTCGGACCAGGCCCCCCCACTG	0.614													8	360	---	---	---	---					
ARHGEF15	22899	broad.mit.edu	37	17	8224297	8224298	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:8224297_8224298insC	ENST00000361926.3	+	16	2622_2623	c.2512_2513insC	c.(2512-2514)cccfs	p.P838fs	ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.P838fs	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	838					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CACCCCCAATGCCCCCCCACCC	0.574													11	223	---	---	---	---					
MYH4	4622	broad.mit.edu	37	17	10369888	10369889	+	Frame_Shift_Ins	INS	-	-	C	rs143441825	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:10369888_10369889insC	ENST00000255381.2	-	3	284_285	c.174_175insG	c.(172-177)ggaggtfs	p.G59fs	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	59	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTGTCACCTTCCCCCCTTCCC	0.460													7	564	---	---	---	---					
MYH3	4621	broad.mit.edu	37	17	10555835	10555836	+	Frame_Shift_Ins	INS	-	-	G	rs139160750		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:10555835_10555836insG	ENST00000583535.1	-	4	336_337	c.249_250insC	c.(247-252)ccagttfs	p.V84fs	MYH3_ENST00000226209.7_Frame_Shift_Ins_p.V84fs	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	84	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTGTCGAACTTGGGGGGGTTCA	0.495													12	311	---	---	---	---					
MYOCD	93649	broad.mit.edu	37	17	12642605	12642606	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:12642605_12642606insC	ENST00000425538.1	+	7	877_878	c.677_678insC	c.(676-678)gccfs	p.A226fs	MYOCD_ENST00000343344.4_Frame_Shift_Ins_p.A226fs|MYOCD_ENST00000395988.1_Frame_Shift_Ins_p.A130fs	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	226					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAGGGGCTTGGCCCCCCCAGCA	0.584													13	165	---	---	---	---					
ATPAF2	91647	broad.mit.edu	37	17	17927959	17927961	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:17927959_17927961delATT	ENST00000474627.3	-	5	634_636	c.480_482delAAT	c.(478-483)ccc>cc	p.PI160del	ATPAF2_ENST00000585101.1_3'UTR|ATPAF2_ENST00000469327.1_5'UTR	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	160					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					CCATTCGATGATTGGATCCCACT	0.468													17	36	---	---	---	---					
UBBP4	23666	broad.mit.edu	37	17	21731033	21731034	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:21731033_21731034insC	ENST00000584755.1	+	2	732_733	c.335_336insC	c.(334-336)accfs	p.T112fs	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Frame_Shift_Ins_p.T112fs																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						AAAGAAGGCATCCCCCCCGACC	0.540													7	104	---	---	---	---					
NEK8	284086	broad.mit.edu	37	17	27068995	27068996	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:27068995_27068996insC	ENST00000268766.6	+	15	2103_2104	c.2069_2070insC	c.(2068-2070)gccfs	p.A690fs	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	690						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.P703fs*10(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GATGAGCCGGTCCCCCCCTGAG	0.584													16	347	---	---	---	---					
PHF12	57649	broad.mit.edu	37	17	27233908	27233909	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:27233908_27233909insG	ENST00000332830.4	-	14	3455_3456	c.2645_2646insC	c.(2644-2646)cagfs	p.Q882fs	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1	Q96QT6	PHF12_HUMAN	PHD finger protein 12	882					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CAATACTGCTTGGGGGGGTTGG	0.510													12	309	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27963294	27963295	+	Frame_Shift_Ins	INS	-	-	G	rs35554312		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:27963294_27963295insG	ENST00000269033.3	-	14	2023_2024	c.1872_1873insC	c.(1870-1875)cctgtcfs	p.V625fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.V652fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	625					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAGGGGACATGGGGGGGTCTT	0.470													9	315	---	---	---	---					
SRCIN1	80725	broad.mit.edu	37	17	36708245	36708246	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:36708245_36708246insG	ENST00000264659.7	-	14	2827_2828	c.2603_2604insC	c.(2602-2604)cctfs	p.P868fs	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Frame_Shift_Ins_p.P902fs	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	740	Pro-rich.				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	p.P868P(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GCAGGTTCAGCGGGGGGCTGGG	0.619													7	112	---	---	---	---					
CDK12	51755	broad.mit.edu	37	17	37687471	37687472	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:37687471_37687472insG	ENST00000447079.4	+	14	4408_4409	c.4375_4376insG	c.(4375-4377)gggfs	p.G1459fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.G1450fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1459					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGGCCTTCACTGGGGGGGCCCA	0.559			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			7	150	---	---	---	---					
GSDMB	55876	broad.mit.edu	37	17	38065269	38065270	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:38065269_38065270insG	ENST00000394175.2	-	4	825_826	c.602_603insC	c.(601-603)caafs	p.Q201fs	GSDMB_ENST00000309481.7_Frame_Shift_Ins_p.Q201fs|GSDMB_ENST00000418519.1_Frame_Shift_Ins_p.Q201fs|GSDMB_ENST00000360317.3_Frame_Shift_Ins_p.Q201fs|GSDMB_ENST00000520542.1_Frame_Shift_Ins_p.Q201fs|GSDMB_ENST00000394179.1_Frame_Shift_Ins_p.Q201fs	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	201						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						GGACCCGATTTGGGGGGATGGT	0.505													8	457	---	---	---	---					
KRT33B	3884	broad.mit.edu	37	17	39525930	39525931	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:39525930_39525931insG	ENST00000251646.3	-	1	121_122	c.72_73insC	c.(70-75)ccgctgfs	p.L25fs		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	25	Head.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				CCGTGGCAGCTGGGGGGCACAC	0.649													8	99	---	---	---	---					
STAT5B	6777	broad.mit.edu	37	17	40370235	40370236	+	Frame_Shift_Ins	INS	-	-	G	rs144993426		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:40370235_40370236insG	ENST00000293328.3	-	9	1270_1271	c.1102_1103insC	c.(1102-1104)ggtfs	p.G368fs		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	368					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GGCCTTCACCTGGGGGGGGTTC	0.574													11	96	---	---	---	---					
STAT5A	6776	broad.mit.edu	37	17	40453398	40453399	+	Frame_Shift_Ins	INS	-	-	C	rs146398782		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:40453398_40453399insC	ENST00000345506.4	+	10	1737_1738	c.1095_1096insC	c.(1093-1098)aaccccfs	p.NP365fs	STAT5A_ENST00000546010.2_Frame_Shift_Ins_p.NP335fs|STAT5A_ENST00000452307.2_Frame_Shift_Ins_p.NP365fs|STAT5A_ENST00000590949.1_Frame_Shift_Ins_p.NP365fs|STAT5A_ENST00000588868.1_Frame_Shift_Ins_p.NP365fs	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	365					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		TGCACATGAATCCCCCCCAGGT	0.564													12	583	---	---	---	---					
CNTNAP1	8506	broad.mit.edu	37	17	40843956	40843957	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:40843956_40843957insG	ENST00000264638.4	+	16	2694_2695	c.2477_2478insG	c.(2476-2478)aggfs	p.R826fs	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	826	Laminin G-like 3.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTAGAGAATATGGGGGGCCCTT	0.604													7	694	---	---	---	---					
AOC2	314	broad.mit.edu	37	17	40996940	40996941	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:40996940_40996941insC	ENST00000253799.3	+	1	324_325	c.297_298insC	c.(295-300)ctccccfs	p.LP99fs	AOC2_ENST00000452774.2_Frame_Shift_Ins_p.LP99fs	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	99					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AGCTGCAGCTGCCCCCCAAGGC	0.678													7	217	---	---	---	---					
SP2	6668	broad.mit.edu	37	17	45994141	45994142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:45994141_45994142insC	ENST00000376741.4	+	3	841_842	c.704_705insC	c.(703-705)accfs	p.T235fs	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	235					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						CTCACTGAAAGCCCCCCAACCC	0.609													13	430	---	---	---	---					
SP2	6668	broad.mit.edu	37	17	45994349	45994350	+	Frame_Shift_Ins	INS	-	-	C	rs142857959		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:45994349_45994350insC	ENST00000376741.4	+	3	1049_1050	c.912_913insC	c.(910-915)gtccccfs	p.VP304fs	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	304					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						TCCAGGTGGTGCCCCCCAAGGC	0.649													9	323	---	---	---	---					
HOXB3	3213	broad.mit.edu	37	17	46628218	46628219	+	Frame_Shift_Ins	INS	-	-	C	rs142877220	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:46628218_46628219insC	ENST00000470495.1	-	2	2220_2221	c.773_774insG	c.(772-774)gccfs	p.A258fs	HOXB3_ENST00000311626.4_Frame_Shift_Ins_p.A258fs|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000472863.1_Frame_Shift_Ins_p.A185fs|HOXB3_ENST00000490677.1_Frame_Shift_Ins_p.A124fs|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000498678.1_Frame_Shift_Ins_p.A258fs|HOXB3_ENST00000476342.1_Frame_Shift_Ins_p.A258fs|HOXB3_ENST00000489475.1_Frame_Shift_Ins_p.A185fs|HOXB3_ENST00000485909.2_Frame_Shift_Ins_p.A126fs|HOXB3_ENST00000460160.1_Frame_Shift_Ins_p.A126fs|HOXB-AS3_ENST00000465846.2_RNA			P14651	HXB3_HUMAN	homeobox B3	258					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CTGGAGATGGGCCCCCCGACGA	0.639											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	291	---	---	---	---					
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:50008356_50008357insC	ENST00000451037.2	-	3	1212_1213	c.272_273insG	c.(271-273)gagfs	p.E91fs	CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs|CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TTACCTTCCTGCCCCCCGTGTT	0.490													25	1320	---	---	---	---					
MTMR4	9110	broad.mit.edu	37	17	56590245	56590246	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:56590245_56590246insG	ENST00000323456.5	-	3	184_185	c.60_61insC	c.(58-63)ccaggafs	p.G21fs	MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.G21fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	21						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	p.K21fs*20(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTAGTTCCTTGGGGGGGAACA	0.569													12	328	---	---	---	---					
MARCH10	162333	broad.mit.edu	37	17	60814265	60814266	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:60814265_60814266insC	ENST00000544856.2	-	7	1338_1339	c.960_961insG	c.(958-963)ggcatcfs	p.I321fs	MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs|RP11-156L14.1_ENST00000577270.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	322							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGGGTCGATGTCCCCCCAAATC	0.460													8	895	---	---	---	---					
PSMC5	5705	broad.mit.edu	37	17	61908770	61908771	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:61908770_61908771insC	ENST00000310144.6	+	9	1262_1263	c.954_955insC	c.(952-957)ccccccfs	p.PP318fs	PSMC5_ENST00000375812.4_Frame_Shift_Ins_p.PP310fs|PSMC5_ENST00000581882.1_Frame_Shift_Ins_p.PP310fs|PSMC5_ENST00000580864.1_Frame_Shift_Ins_p.PP310fs	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	318					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						TTGAATTCCCACCCCCCAATGA	0.545													10	435	---	---	---	---					
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)aagfs	p.K1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376													14	800	---	---	---	---					
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:71223356_71223357insG	ENST00000405159.3	-	2	332_333	c.268_269insC	c.(268-270)gacfs	p.D90fs	FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000581110.1_Intron	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTTTTGGTCTGGGGGGGAAGA	0.416													7	243	---	---	---	---					
ICT1	3396	broad.mit.edu	37	17	73015832	73015833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:73015832_73015833insG	ENST00000301585.5	+	3	274_275	c.261_262insG	c.(259-264)ccggggfs	p.PG87fs		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	87					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					GTAGTGGTCCTGGGGGGCAGAA	0.441													8	503	---	---	---	---					
GRB2	2885	broad.mit.edu	37	17	73389642	73389643	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:73389642_73389643insC	ENST00000392562.1	-	2	849_850	c.67_68insG	c.(67-69)catfs	p.H23fs	GRB2_ENST00000392563.1_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000316804.5_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000392564.1_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000316615.5_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000578961.1_Frame_Shift_Ins_p.H23fs			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	23	SH3 1.				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	CTTGAGGATGTCCCCCCTTTTG	0.530													10	920	---	---	---	---					
B3GNTL1	146712	broad.mit.edu	37	17	81006371	81006372	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:81006371_81006372insC	ENST00000320865.3	-	3	265_266	c.252_253insG	c.(250-255)ggacgafs	p.R85fs	B3GNTL1_ENST00000571954.1_5'UTR|B3GNTL1_ENST00000576599.1_5'UTR	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	85							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GGAGAATCGTGCCCCCCAATGA	0.441													8	331	---	---	---	---					
GAREM	64762	broad.mit.edu	37	18	29867327	29867328	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr18:29867327_29867328insC	ENST00000399218.4	-	4	1287_1288	c.1232_1233insG	c.(1231-1233)ggafs	p.G411fs	GAREM_ENST00000269209.6_Frame_Shift_Ins_p.G411fs	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		GAGCCCAATCTCCCCCCAGGTC	0.545													9	422	---	---	---	---					
CELF4	56853	broad.mit.edu	37	18	34850792	34850793	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr18:34850792_34850793insG	ENST00000420428.2	-	8	1432_1433	c.1037_1038insC	c.(1036-1038)ccafs	p.P346fs	CELF4_ENST00000591282.1_Frame_Shift_Ins_p.P346fs|CELF4_ENST00000361795.5_Frame_Shift_Ins_p.P344fs|CELF4_ENST00000603232.1_Frame_Shift_Ins_p.P345fs|CELF4_ENST00000601019.1_Frame_Shift_Ins_p.P344fs|CELF4_ENST00000412753.1_Frame_Shift_Ins_p.P345fs|CELF4_ENST00000588597.1_Frame_Shift_Ins_p.P335fs|CELF4_ENST00000591287.1_Frame_Shift_Ins_p.P345fs|CELF4_ENST00000334919.5_Frame_Shift_Ins_p.P336fs	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	346					embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CATTGGCCTGTGGGGGGAGGCC	0.614													12	332	---	---	---	---					
ZBTB7C	201501	broad.mit.edu	37	18	45566518	45566519	+	Frame_Shift_Ins	INS	-	-	C	rs113275715		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr18:45566518_45566519insC	ENST00000588982.1	-	3	1461_1462	c.960_961insG	c.(958-963)ggctctfs	p.S321fs	ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.S321fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.S321fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.S321fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.S321fs			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	321	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GGTCCCAGAGGCCCCCCCGGCA	0.624													15	320	---	---	---	---					
ZBTB7C	201501	broad.mit.edu	37	18	45567084	45567085	+	Frame_Shift_Ins	INS	-	-	C	rs115080210	by1000genomes	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr18:45567084_45567085insC	ENST00000588982.1	-	3	895_896	c.394_395insG	c.(394-396)cggfs	p.R132fs	ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.R132fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.R132fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.R132fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.R132fs			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	132	Asp-rich.|Glu-rich.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						ctcccccccgtcccccCCAGGC	0.579													9	217	---	---	---	---					
CTIF	9811	broad.mit.edu	37	18	46163042	46163043	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr18:46163042_46163043insC	ENST00000256413.3	+	3	533_534	c.238_239insC	c.(238-240)cccfs	p.P80fs	CTIF_ENST00000382998.4_Frame_Shift_Ins_p.P80fs	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	80	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CCGAGGGCGAGCCCCCCCACAG	0.644													8	80	---	---	---	---					
WDR7	23335	broad.mit.edu	37	18	54358512	54358513	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr18:54358512_54358513insG	ENST00000254442.3	+	8	994_995	c.783_784insG	c.(781-786)acggggfs	p.TG261fs	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Frame_Shift_Ins_p.TG261fs	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	261										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGACATGGACCGGGGGGGACTT	0.416													7	149	---	---	---	---					
CNDP2	55748	broad.mit.edu	37	18	72168667	72168668	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr18:72168667_72168668insG	ENST00000324262.4	+	3	480_481	c.164_165insG	c.(163-165)tggfs	p.W55fs	CNDP2_ENST00000579847.1_Frame_Shift_Ins_p.W55fs|CNDP2_ENST00000324301.8_Frame_Shift_Ins_p.W55fs	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	55						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GTTAAGCAGTTGGGGGGCTCTG	0.520													12	581	---	---	---	---					
ACER1	125981	broad.mit.edu	37	19	6312164	6312165	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:6312164_6312165insC	ENST00000301452.4	-	3	422_423	c.345_346insG	c.(343-348)ggacagfs	p.Q116fs		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	116						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						ACCCACCTGTTCCCCCCAAGGA	0.614													7	258	---	---	---	---					
SH2D3A	10045	broad.mit.edu	37	19	6755179	6755180	+	Frame_Shift_Ins	INS	-	-	G	rs139813452	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:6755179_6755180insG	ENST00000245908.6	-	5	912_913	c.643_644insC	c.(643-645)gacfs	p.D215fs	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.D93fs	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	215					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGAGGGTGTCCGGGGGGGCTTC	0.653													37	923	---	---	---	---					
INSR	3643	broad.mit.edu	37	19	7168022	7168023	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:7168022_7168023insG	ENST00000341500.5	-	7	1605_1606	c.1566_1567insC	c.(1564-1569)ccacttfs	p.L523fs	INSR_ENST00000302850.5_Frame_Shift_Ins_p.L523fs	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	523					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTCGGAAGTCGGGGGGCCAGT	0.475													8	301	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9049102	9049103	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:9049102_9049103insA	ENST00000397910.4	-	5	32731_32732	c.32528_32529insT	c.(32527-32529)tcafs	p.S10843fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10845	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTTACTATGGAAAAAAATGGA	0.490													9	1295	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:9064309_9064310insG	ENST00000397910.4	-	3	23339_23340	c.23136_23137insC	c.(23134-23139)ccctccfs	p.S7713fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7715	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGGGGAGAGGGGGGGATAT	0.530													16	492	---	---	---	---					
ZNF561	93134	broad.mit.edu	37	19	9727836	9727838	+	In_Frame_Del	DEL	CGT	CGT	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:9727836_9727838delCGT	ENST00000302851.3	-	4	487_489	c.124_126delACG	c.(124-126)del	p.T42del	ZNF561_ENST00000495503.1_5'UTR|ZNF561_ENST00000424629.1_5'UTR|ZNF561_ENST00000354661.4_5'UTR|ZNF561_ENST00000326044.5_In_Frame_Del_p.T42del	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						CATCATCAAACGTCACTGAATCC	0.443													43	69	---	---	---	---					
ANGPTL6	83854	broad.mit.edu	37	19	10204185	10204186	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:10204185_10204186insC	ENST00000253109.4	-	5	1299_1300	c.1061_1062insG	c.(1060-1062)gcgfs	p.A354fs	ANGPTL6_ENST00000592641.1_Frame_Shift_Ins_p.A354fs|ANGPTL6_ENST00000589181.1_Frame_Shift_Ins_p.A314fs	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	354	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			GTGCTCCACGGCCCCCCCAGTC	0.639													7	70	---	---	---	---					
DNMT1	1786	broad.mit.edu	37	19	10291083	10291084	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:10291083_10291084insG	ENST00000340748.4	-	4	622_623	c.387_388insC	c.(385-390)ccaaccfs	p.T130fs	DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.T130fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	130	Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GAAAGGGGTTTGGGGGGGCTGT	0.495													37	679	---	---	---	---					
TYK2	7297	broad.mit.edu	37	19	10463112	10463113	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:10463112_10463113insG	ENST00000525621.1	-	23	3796_3797	c.3315_3316insC	c.(3313-3318)cccgaafs	p.E1106fs	TYK2_ENST00000264818.6_Frame_Shift_Ins_p.E1106fs|TYK2_ENST00000524462.1_Frame_Shift_Ins_p.E921fs|TYK2_ENST00000529422.1_Intron	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1106	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GCTCTCACCGTGGGGGGGCTCT	0.599													14	164	---	---	---	---					
EPOR	2057	broad.mit.edu	37	19	11488680	11488681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:11488680_11488681insG	ENST00000222139.6	-	8	1610_1611	c.1506_1507insC	c.(1504-1509)ccgctafs	p.L503fs	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	503						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GCCACATAGCTGGGGGGCAGAG	0.569											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	1479	---	---	---	---					
ZNF878	729747	broad.mit.edu	37	19	12155708	12155709	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:12155708_12155709insT	ENST00000602107.1	-	5	647_648	c.648_649insA	c.(646-651)aacctafs	p.NL216fs	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL169fs			C9JN71	ZN878_HUMAN	zinc finger protein 878	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CATTCATAGGGTTTTTTTGCAG	0.411													22	666	---	---	---	---					
CYP4F2	8529	broad.mit.edu	37	19	15996865	15996866	+	Splice_Site	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:15996865_15996866insG	ENST00000221700.5	-	9	1081		c.e9-2		CYP4F2_ENST00000011989.7_Splice_Site|CYP4F2_ENST00000592328.1_Splice_Site	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2						leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTCATGGCCTGGGGGGCAGCA	0.629													7	500	---	---	---	---					
CPAMD8	27151	broad.mit.edu	37	19	17039883	17039884	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:17039883_17039884insC	ENST00000443236.1	-	24	3184_3185	c.3153_3154insG	c.(3151-3156)ggatcafs	p.S1052fs		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1005						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.H1052fs*30(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTGTTCTGATGCCCCCCCAGGA	0.584													8	139	---	---	---	---					
MPV17L2	84769	broad.mit.edu	37	19	18305818	18305819	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:18305818_18305819insC	ENST00000599612.2	+	4	586_587	c.486_487insC	c.(484-489)gtccccfs	p.VP162fs	MPV17L2_ENST00000534474.2_Frame_Shift_Ins_p.P137fs	NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	162						integral to membrane				large_intestine(1)|lung(2)|urinary_tract(1)	4						TCCTCTTCGTGCCCCCCCAATT	0.653													12	177	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769061	31769062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:31769061_31769062insC	ENST00000240587.4	-	2	1964_1965	c.1637_1638insG	c.(1636-1638)gtafs	p.V546fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	546					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCTGGGATAGCCCCCCCAGCT	0.559													24	402	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:31769141_31769142insC	ENST00000240587.4	-	2	1884_1885	c.1557_1558insG	c.(1555-1560)ggttgafs	p.*520fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	520					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGATATCAAGCCCCCCCTTGG	0.500													15	568	---	---	---	---					
LSR	51599	broad.mit.edu	37	19	35749877	35749878	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:35749877_35749878insG	ENST00000602122.1	+	3	1115_1116	c.628_629insG	c.(628-630)gggfs	p.G210fs	LSR_ENST00000360798.3_Frame_Shift_Ins_p.G210fs|LSR_ENST00000361790.3_Frame_Shift_Ins_p.G210fs|LSR_ENST00000347609.4_Frame_Shift_Ins_p.G173fs|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000354900.3_Frame_Shift_Ins_p.G210fs|LSR_ENST00000427250.1_Intron			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	210	Ig-like V-type.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCAGACGGCGTGGGGGGACAGT	0.614													7	281	---	---	---	---					
FFAR2	2867	broad.mit.edu	37	19	35940788	35940790	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:35940788_35940790delCTG	ENST00000599180.1	+	2	252_254	c.172_174delCTG	c.(172-174)del	p.L62del	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del			O15552	FFAR2_HUMAN	free fatty acid receptor 2	62						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGACCTCCTCCTGCTGCTGCTGC	0.645													7	309	---	---	---	---					
CLIP3	25999	broad.mit.edu	37	19	36508595	36508596	+	Frame_Shift_Ins	INS	-	-	G	rs149870756		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:36508595_36508596insG	ENST00000360535.4	-	11	1639_1640	c.1412_1413insC	c.(1411-1413)cagfs	p.Q471fs	CLIP3_ENST00000593074.1_Frame_Shift_Ins_p.Q471fs|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	471	CAP-Gly 2.				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	p.P471Q(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCCCATGCCTCGGGGGGCAAGT	0.604													10	186	---	---	---	---					
FCGBP	8857	broad.mit.edu	37	19	40433821	40433822	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:40433821_40433822insG	ENST00000221347.6	-	2	454_455	c.447_448insC	c.(445-450)ccgcacfs	p.H150fs		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	150	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCTGAGGTGCCGGGGGGTGTGA	0.604													10	427	---	---	---	---					
C19orf47	126526	broad.mit.edu	37	19	40834398	40834399	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:40834398_40834399insG	ENST00000582783.1	-	6	483_484	c.471_472insC	c.(469-474)ccggcgfs	p.A158fs	C19orf47_ENST00000392035.2_Frame_Shift_Ins_p.A91fs	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	158										endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			TCCGGGCGCCTGGGGGGTGTGC	0.614													10	896	---	---	---	---					
HIPK4	147746	broad.mit.edu	37	19	40886757	40886758	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:40886757_40886758insG	ENST00000291823.2	-	3	1424_1425	c.1140_1141insC	c.(1138-1143)cccgccfs	p.A381fs		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	381			T -> M (in dbSNP:rs55760165).			cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			ACGACGGGCGTGGGGGGCTTCC	0.658													10	735	---	---	---	---					
CCDC97	90324	broad.mit.edu	37	19	41825517	41825518	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:41825517_41825518insC	ENST00000269967.3	+	3	663_664	c.541_542insC	c.(541-543)cccfs	p.P181fs		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	181										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						GCGGTTCCGGGCCCCCCTGCTA	0.644													7	1210	---	---	---	---					
CEACAM5	1048	broad.mit.edu	37	19	42224865	42224866	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:42224865_42224866insC	ENST00000221992.6	+	8	1909_1910	c.1795_1796insC	c.(1795-1797)cccfs	p.P599fs	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.P598fs|CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.P599fs	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	599	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCCATCATTTCCCCCCCAGAC	0.545													9	323	---	---	---	---					
MEGF8	1954	broad.mit.edu	37	19	42866542	42866543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:42866542_42866543insC	ENST00000334370.4	+	33	6285_6286	c.5650_5651insC	c.(5650-5652)cccfs	p.P1884fs	MEGF8_ENST00000251268.6_Frame_Shift_Ins_p.P1951fs	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1951	PSI 4.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCAGGCGTCCACCCCCCGCTGT	0.614													9	368	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:43439519_43439520insC	ENST00000446844.3	-	0	520				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515													20	1225	---	---	---	---					
KCNN4	3783	broad.mit.edu	37	19	44284860	44284861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:44284860_44284861insC	ENST00000262888.3	-	1	548_549	c.153_154insG	c.(151-156)gggctcfs	p.L52fs		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	52					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	CTCACCGAGCACCCCCCGAACC	0.653													9	310	---	---	---	---					
CLASRP	11129	broad.mit.edu	37	19	45556128	45556129	+	Frame_Shift_Ins	INS	-	-	C	rs146240710		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:45556128_45556129insC	ENST00000544944.2	+	3	969_970	c.277_278insC	c.(277-279)cccfs	p.P93fs	CLASRP_ENST00000221455.3_Frame_Shift_Ins_p.P93fs|CLASRP_ENST00000391953.4_Intron			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	93					mRNA processing|RNA splicing	nucleus		p.L96fs*17(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCCCGACTACACCCCCCCTCTG	0.614													9	316	---	---	---	---					
IGFL2	147920	broad.mit.edu	37	19	46663998	46663999	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:46663998_46663999insC	ENST00000434646.2	+	4	525_526	c.234_235insC	c.(232-237)ggccccfs	p.GP78fs	IGFL2_ENST00000377693.4_Frame_Shift_Ins_p.GP67fs|AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000600243.1_3'UTR	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	67						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		GCCAATGTGGTCCCCCCTGCAC	0.554													7	1350	---	---	---	---					
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:48737669_48737670insC	ENST00000391898.3	-	3	382_383	c.340_341insG	c.(340-342)catfs	p.H114fs	CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000357778.5_5'UTR|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	0					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436													12	329	---	---	---	---					
FAM83E	54854	broad.mit.edu	37	19	49107037	49107038	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:49107037_49107038insG	ENST00000263266.3	-	4	1078_1079	c.889_890insC	c.(889-891)gaafs	p.E297fs		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	297										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CGAGGGTTTCTGGGGGGGCGCA	0.723													8	57	---	---	---	---					
PPP1R15A	23645	broad.mit.edu	37	19	49377485	49377486	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:49377485_49377486insC	ENST00000200453.5	+	2	1264_1265	c.995_996insC	c.(994-996)accfs	p.T332fs		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	332	Glu-rich.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CCTCCCTGCATCCCCCCACCAA	0.564													10	493	---	---	---	---					
CPT1C	126129	broad.mit.edu	37	19	50203963	50203964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:50203963_50203964insG	ENST00000392518.4	+	5	676_677	c.304_305insG	c.(304-306)gggfs	p.G102fs	CPT1C_ENST00000323446.5_Frame_Shift_Ins_p.G102fs|CPT1C_ENST00000354199.5_Frame_Shift_Ins_p.G102fs|CPT1C_ENST00000598293.1_Frame_Shift_Ins_p.G102fs|CPT1C_ENST00000405931.2_Frame_Shift_Ins_p.G102fs	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	102					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CCACGGGCTCCGGGGGGTCCTG	0.673													8	521	---	---	---	---					
NAPSA	9476	broad.mit.edu	37	19	50862305	50862306	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:50862305_50862306insC	ENST00000253719.2	-	8	1205_1206	c.997_998insG	c.(997-999)ctgfs	p.L333fs	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	333					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GTTAAACCAGACCCCCCCAAGA	0.530													7	187	---	---	---	---					
SHANK1	50944	broad.mit.edu	37	19	51192459	51192460	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:51192459_51192460insC	ENST00000293441.1	-	15	2059_2060	c.2041_2042insG	c.(2041-2043)caafs	p.Q681fs	SHANK1_ENST00000391814.1_Frame_Shift_Ins_p.Q681fs|SHANK1_ENST00000359082.3_Frame_Shift_Ins_p.Q672fs|SHANK1_ENST00000391813.1_Frame_Shift_Ins_p.Q68fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	681	PDZ.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.A681S(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTCACCCTTGGCCCCCCGGAGC	0.609													10	476	---	---	---	---					
GPR32	2854	broad.mit.edu	37	19	51274914	51274915	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:51274914_51274915insC	ENST00000270590.4	+	1	1194_1195	c.1057_1058insC	c.(1057-1059)cccfs	p.P353fs		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	353						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCGTGGCAACGCCCCCCGGGAA	0.525													8	305	---	---	---	---					
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:51326962_51326963insC	ENST00000301420.2	-	1	77_78	c.42_43insG	c.(40-45)ggctggfs	p.W15fs	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	15					proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCTCACCAGTCCCCCCCAGGG	0.653													19	418	---	---	---	---					
ZNF175	7728	broad.mit.edu	37	19	52090436	52090437	+	Frame_Shift_Ins	INS	-	-	G	rs138396190		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:52090436_52090437insG	ENST00000262259.2	+	5	1210_1211	c.852_853insG	c.(850-855)tgggggfs	p.WG284fs	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	284					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTTCTGAATGTGGGGGGAGCTT	0.441													7	587	---	---	---	---					
ZNF761	388561	broad.mit.edu	37	19	53946133	53946133	+	RNA	DEL	A	A	-	rs35108555		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:53946133delA	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TCATGTTGTGAAAAAAAAAAT	0.348													5	3	---	---	---	---					
MIR498	574460	broad.mit.edu	37	19	54177507	54177508	+	RNA	DEL	TA	TA	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:54177507_54177508delTA	ENST00000385134.1	+	0	57_58					NR_030182.1																						GGCGTTTTTCTATAACTGGATG	0.450													30	293	---	---	---	---					
KIR3DL1	3811	broad.mit.edu	37	19	55331443	55331443	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:55331443delG	ENST00000391728.4	+	4	664	c.631delG	c.(631-633)atfs	p.D211fs	KIR3DL1_ENST00000538269.1_Frame_Shift_Del_p.D211fs|KIR3DL1_ENST00000541392.1_Frame_Shift_Del_p.D211fs|KIR3DL1_ENST00000402254.2_Frame_Shift_Del_p.D211fs|KIR3DL1_ENST00000358178.4_Frame_Shift_Del_p.D116fs|KIR3DL1_ENST00000326542.7_Frame_Shift_Del_p.D211fs	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AGCTCCCAGTGATCCCCTGGA	0.532													8	1513	---	---	---	---					
BRSK1	84446	broad.mit.edu	37	19	55800871	55800872	+	Frame_Shift_Ins	INS	-	-	G	rs142000353		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:55800871_55800872insG	ENST00000309383.1	+	4	618_619	c.341_342insG	c.(340-342)tggfs	p.W114fs	BRSK1_ENST00000585418.1_Frame_Shift_Ins_p.W114fs|BRSK1_ENST00000590333.1_Frame_Shift_Ins_p.W130fs	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	114	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GAGCACGTCTCGGGGGGTGAGC	0.589													7	219	---	---	---	---					
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:333922_333923insC	ENST00000382291.3	+	4	498_499	c.258_259insC	c.(256-261)gtccccfs	p.VP86fs	NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs|NRSN2_ENST00000492242.1_3'UTR	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	86						integral to membrane|plasma membrane|transport vesicle				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GCTATGCAGTGCCCCCCAAGCT	0.644													21	551	---	---	---	---					
NSFL1C	55968	broad.mit.edu	37	20	1426464	1426465	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:1426464_1426465insG	ENST00000216879.4	-	8	1663_1664	c.796_797insC	c.(796-798)ggtfs	p.G266fs	NSFL1C_ENST00000350991.4_Frame_Shift_Ins_p.G268fs|NSFL1C_ENST00000381658.4_Frame_Shift_Ins_p.G155fs|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000353088.2_Frame_Shift_Ins_p.G235fs|NSFL1C_ENST00000476071.1_Frame_Shift_Ins_p.G268fs	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	266						chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						ACTCAACACCTGGGGGGCAGTG	0.510													8	517	---	---	---	---					
FASTKD5	60493	broad.mit.edu	37	20	3128000	3128001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:3128000_3128001insC	ENST00000380266.3	-	2	2037_2038	c.1716_1717insG	c.(1714-1719)ggcccafs	p.GP572fs	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	572					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ACGTACTGGGGCCCCCCCAGCA	0.436													19	291	---	---	---	---					
SMOX	54498	broad.mit.edu	37	20	4163027	4163028	+	Frame_Shift_Ins	INS	-	-	G	rs145014650	by1000genomes	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:4163027_4163028insG	ENST00000305958.4	+	5	1126_1127	c.901_902insG	c.(901-903)gggfs	p.G301fs	SMOX_ENST00000339123.6_Intron|SMOX_ENST00000379460.2_Frame_Shift_Ins_p.G301fs|SMOX_ENST00000278795.3_Intron|SMOX_ENST00000346595.2_Intron	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	301			R -> P (in dbSNP:rs6084654).		polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	p.R301W(1)		breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGAGGAGCCCCGGGGGGGCAGG	0.673													9	135	---	---	---	---					
ISM1	140862	broad.mit.edu	37	20	13260474	13260475	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:13260474_13260475insC	ENST00000262487.3	+	3	578_579	c.572_573insC	c.(571-573)accfs	p.T191fs	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	191						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						AACTTCCTCAACCCCCCCAGGG	0.554													11	248	---	---	---	---					
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:23667825_23667826insC	ENST00000217423.3	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAAG	0.554													15	385	---	---	---	---					
ACSS2	55902	broad.mit.edu	37	20	33508359	33508360	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:33508359_33508360insG	ENST00000360596.2	+	9	1201_1202	c.990_991insG	c.(988-993)gtggggfs	p.VG330fs	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Frame_Shift_Ins_p.VG343fs|ACSS2_ENST00000336325.4_Frame_Shift_Ins_p.VG280fs	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	330					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TTCACACAGTTGGGGGCTACAT	0.530													9	559	---	---	---	---					
CNBD2	140894	broad.mit.edu	37	20	34618503	34618504	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:34618503_34618504insC	ENST00000373973.3	+	12	1837_1838	c.1664_1665insC	c.(1663-1665)cccfs	p.P555fs	CNBD2_ENST00000349339.1_Frame_Shift_Ins_p.P551fs|CNBD2_ENST00000538900.1_3'UTR					cyclic nucleotide binding domain containing 2																		CAGAAATACCTCCCCCCATTGA	0.455													9	1224	---	---	---	---					
SOGA1	140710	broad.mit.edu	37	20	35443591	35443592	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:35443591_35443592insG	ENST00000237536.4	-	5	2594_2595	c.2253_2254insC	c.(2251-2256)cctgggfs	p.G752fs	SOGA1_ENST00000357779.3_Frame_Shift_Ins_p.G514fs|SOGA1_ENST00000279034.5_Frame_Shift_Ins_p.G514fs|SOGA1_ENST00000456801.2_Frame_Shift_Ins_p.G355fs	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	514										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TGGGAGCCCAAGGGGGGCAGTG	0.535													8	661	---	---	---	---					
RPN2	6185	broad.mit.edu	37	20	35860725	35860726	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:35860725_35860726insC	ENST00000237530.6	+	14	1919_1920	c.1608_1609insC	c.(1606-1611)agccccfs	p.SP536fs	RPN2_ENST00000373622.5_Frame_Shift_Ins_p.SP504fs|RPN2_ENST00000470352.1_Intron	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	536					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CTGAGAAGAGGCCCCCCACCGT	0.574													11	849	---	---	---	---					
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)cccfs	p.P379fs	RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.H382fs*2(1)		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						TGTCAGTACCACCCCCCCACAT	0.446													10	209	---	---	---	---					
LPIN3	64900	broad.mit.edu	37	20	39977798	39977799	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:39977798_39977799insC	ENST00000373257.3	+	5	715_716	c.624_625insC	c.(622-627)tgccccfs	p.CP208fs		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	208					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				ATGGCGAGTGGCCCCCCCAGGC	0.540													35	571	---	---	---	---					
MYBL2	4605	broad.mit.edu	37	20	42344628	42344629	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:42344628_42344629insG	ENST00000217026.4	+	14	2131_2132	c.2004_2005insG	c.(2002-2007)tgggggfs	p.WG668fs	MYBL2_ENST00000396863.4_Frame_Shift_Ins_p.WG644fs	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	668						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.G669W(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CGGTGGCCTGCGGGGGGACCAG	0.624													7	387	---	---	---	---					
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)ccatttfs	p.F103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535													31	415	---	---	---	---					
NCOA5	57727	broad.mit.edu	37	20	44691403	44691404	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:44691403_44691404insG	ENST00000290231.6	-	8	1439_1440	c.1275_1276insC	c.(1273-1278)cccctcfs	p.L426fs		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGCTGGGAGGTGGGGGGTGCAG	0.619													7	487	---	---	---	---					
SLC13A3	64849	broad.mit.edu	37	20	45194969	45194970	+	Frame_Shift_Ins	INS	-	-	G	rs149123701	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:45194969_45194970insG	ENST00000279027.4	-	11	1410_1411	c.1392_1393insC	c.(1390-1395)ccccctfs	p.PP464fs	SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.PP49fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.PP414fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.PP417fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	464						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	p.P464P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ACAGCCAGGGCGGGGGGCACAT	0.604													10	650	---	---	---	---					
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)ccaaagfs	p.PK775fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	775					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)			GGGAGGCTTTTGGGGGGGCTGG	0.545													48	1291	---	---	---	---					
KCNB1	3745	broad.mit.edu	37	20	47989890	47989891	+	Frame_Shift_Ins	INS	-	-	G	rs151175979	by1000genomes	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:47989890_47989891insG	ENST00000371741.4	-	2	2372_2373	c.2206_2207insC	c.(2206-2208)gtcfs	p.V736fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	736					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)			CTCAGGAGACCGGGGGGGTGTC	0.559													11	353	---	---	---	---					
SPATA2	9825	broad.mit.edu	37	20	48522802	48522803	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:48522802_48522803insG	ENST00000422556.1	-	3	1265_1266	c.916_917insC	c.(916-918)cggfs	p.R306fs	SPATA2_ENST00000543716.1_Frame_Shift_Ins_p.R169fs|SPATA2_ENST00000289431.5_Frame_Shift_Ins_p.R306fs	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	306					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CGGGCTGCCGTGGGGGGAGCTG	0.644													8	294	---	---	---	---					
SALL4	57167	broad.mit.edu	37	20	50400982	50400983	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:50400982_50400983insC	ENST00000217086.4	-	4	3094_3095	c.2983_2984insG	c.(2983-2985)tccfs	p.S995fs	SALL4_ENST00000371539.3_Frame_Shift_Ins_p.S218fs|SALL4_ENST00000395997.3_Frame_Shift_Ins_p.S558fs	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	995					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGGGTAGGAACCCCCCCACTC	0.559													7	239	---	---	---	---					
ZFP64	55734	broad.mit.edu	37	20	50769075	50769076	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:50769075_50769076insG	ENST00000216923.4	-	6	2004_2005	c.1655_1656insC	c.(1654-1656)ccafs	p.P552fs	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|ZFP64_ENST00000361387.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCGAGGACTGAGGGGGGGCGAT	0.673													11	159	---	---	---	---					
MIR646HG	284757	broad.mit.edu	37	20	58889663	58889666	+	RNA	DEL	CATC	CATC	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:58889663_58889666delCATC	ENST00000432910.1	+	0	332					NR_046099.1																						ttctcccattcatccatcctccca	0.539													2	4	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)ccaaaafs	p.PK1092fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1092	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406													9	544	---	---	---	---					
PDE9A	5152	broad.mit.edu	37	21	44171249	44171250	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr21:44171249_44171250insT	ENST00000291539.6	+	9	737_738	c.677_678insT	c.(676-678)attfs	p.I226fs	PDE9A_ENST00000398236.3_Frame_Shift_Ins_p.I140fs|PDE9A_ENST00000349112.3_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000380328.2_Frame_Shift_Ins_p.I173fs|PDE9A_ENST00000398234.3_Frame_Shift_Ins_p.I125fs|PDE9A_ENST00000539837.1_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000335512.4_Frame_Shift_Ins_p.I166fs|PDE9A_ENST00000398227.3_Frame_Shift_Ins_p.I66fs|PDE9A_ENST00000328862.6_Frame_Shift_Ins_p.I200fs|PDE9A_ENST00000398224.3_Frame_Shift_Ins_p.I99fs|PDE9A_ENST00000335440.6_Frame_Shift_Ins_p.I124fs|PDE9A_ENST00000398225.3_Frame_Shift_Ins_p.I185fs|PDE9A_ENST00000398229.3_Frame_Shift_Ins_p.I92fs|PDE9A_ENST00000398232.3_Frame_Shift_Ins_p.I159fs	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	226					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						TGTAAGTACAGTTTTTTGGATA	0.520													14	1190	---	---	---	---					
TSPEAR	54084	broad.mit.edu	37	21	45987772	45987773	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr21:45987772_45987773insG	ENST00000323084.4	-	2	264_265	c.199_200insC	c.(199-201)cacfs	p.H67fs	TSPEAR_ENST00000397916.1_5'UTR	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	67					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GCTCATGGTGCGGGGGGCGGCT	0.564													8	266	---	---	---	---					
MCM3AP	8888	broad.mit.edu	37	21	47666704	47666705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr21:47666704_47666705insG	ENST00000397708.1	-	22	4640_4641	c.4386_4387insC	c.(4384-4389)ccaaatfs	p.N1463fs	MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.N1463fs|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1463					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTCTTCATTTTGGGGGGAAGCA	0.609													15	1027	---	---	---	---					
CECR1	51816	broad.mit.edu	37	22	17662759	17662760	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:17662759_17662760insC	ENST00000399839.1	-	9	1662_1663	c.1392_1393insG	c.(1390-1395)ggtgaafs	p.E465fs	CECR1_ENST00000330232.4_Frame_Shift_Ins_p.E224fs|CECR1_ENST00000449907.2_Frame_Shift_Ins_p.E423fs|CECR1_ENST00000399837.2_Frame_Shift_Ins_p.E465fs|CECR1_ENST00000262607.3_Frame_Shift_Ins_p.E465fs			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	465					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TCAGCCTTCATCCCCCCAATGC	0.564													9	531	---	---	---	---					
CECR2	27443	broad.mit.edu	37	22	18022285	18022286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:18022285_18022286insC	ENST00000262608.8	+	15	2390_2391	c.2390_2391insC	c.(2389-2391)gccfs	p.A797fs	CECR2_ENST00000400585.2_Frame_Shift_Ins_p.A655fs|CECR2_ENST00000400573.4_Frame_Shift_Ins_p.A796fs	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	838					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGACCACCTGTCCCCCCCAACC	0.609													19	295	---	---	---	---					
SERPIND1	3053	broad.mit.edu	37	22	21134379	21134380	+	Frame_Shift_Ins	INS	-	-	A	rs76882693		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:21134379_21134380insA	ENST00000215727.5	+	2	1062_1063	c.779_780insA	c.(778-780)taafs	p.*260fs	PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.*260fs|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	260					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	GCCTTCATATCAAAAACCAACA	0.436													8	1590	---	---	---	---					
P2RX6P	440799	broad.mit.edu	37	22	21399220	21399221	+	RNA	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:21399220_21399221insC	ENST00000439119.1	-	0	51					NR_002829.1																						TCTGCAGGGCGCCCCCCCACCA	0.599													8	215	---	---	---	---					
BMS1P20	96610	broad.mit.edu	37	22	22661173	22661174	+	RNA	INS	-	-	C	rs7410785		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:22661173_22661174insC	ENST00000426066.1	+	0	265_266					NR_027293.1																						ATACAGGTTTTCCCCCCCCACC	0.406													10	190	---	---	---	---					
GNAZ	2781	broad.mit.edu	37	22	23438487	23438488	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:23438487_23438488insG	ENST00000248996.4	+	2	1271_1272	c.605_606insG	c.(604-606)gggfs	p.G202fs	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	202						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		ATGGTGGACGTGGGGGGGCAGA	0.574													7	102	---	---	---	---					
TPST2	8459	broad.mit.edu	37	22	26932298	26932299	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:26932298_26932299insG	ENST00000338754.4	-	4	1266_1267	c.996_997insC	c.(994-999)ccactafs	p.L333fs	TPST2_ENST00000403880.1_Frame_Shift_Ins_p.L333fs|TPST2_ENST00000398110.2_Frame_Shift_Ins_p.L333fs	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	333					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TTGCCATAGTTGGGGGGGTTTG	0.584													11	195	---	---	---	---					
GAS2L1	10634	broad.mit.edu	37	22	29708272	29708273	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:29708272_29708273insG	ENST00000406549.3	+	6	1301_1302	c.1151_1152insG	c.(1150-1152)aggfs	p.R384fs	GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000407647.2_3'UTR			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	393					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						TGCCCTGGCATGGGGGGGCCAC	0.678													10	154	---	---	---	---					
OSBP2	23762	broad.mit.edu	37	22	31289119	31289120	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:31289119_31289120insC	ENST00000332585.6	+	9	1984_1985	c.1880_1881insC	c.(1879-1881)cccfs	p.P627fs	OSBP2_ENST00000496575.1_Intron|OSBP2_ENST00000382310.3_Frame_Shift_Ins_p.P578fs|OSBP2_ENST00000535268.1_Frame_Shift_Ins_p.P171fs|OSBP2_ENST00000403222.3_Frame_Shift_Ins_p.P461fs|OSBP2_ENST00000437268.2_Frame_Shift_Ins_p.P369fs|OSBP2_ENST00000407373.1_Frame_Shift_Ins_p.P454fs|OSBP2_ENST00000401475.1_Frame_Shift_Ins_p.P260fs|OSBP2_ENST00000446658.2_Frame_Shift_Ins_p.P626fs	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	627					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GTGAGCCACCACCCCCCCTCAG	0.594													8	95	---	---	---	---					
SFI1	9814	broad.mit.edu	37	22	32002365	32002366	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:32002365_32002366insA	ENST00000432498.1	+	20	2406_2407	c.2013_2014insA	c.(2011-2016)gcaaaafs	p.AK671fs	SFI1_ENST00000443011.1_Frame_Shift_Ins_p.AK549fs|SFI1_ENST00000443326.1_Frame_Shift_Ins_p.AK620fs|SFI1_ENST00000540643.1_Frame_Shift_Ins_p.AK647fs|SFI1_ENST00000414585.1_Frame_Shift_Ins_p.AK549fs|SFI1_ENST00000400288.2_Frame_Shift_Ins_p.AK702fs|SFI1_ENST00000400289.1_Frame_Shift_Ins_p.AK620fs	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	702					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TGGATGAAGCCAAAAAAACCTT	0.510													7	182	---	---	---	---					
TIMP3	7078	broad.mit.edu	37	22	33255323	33255324	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:33255323_33255324insC	ENST00000266085.6	+	5	896_897	c.595_596insC	c.(595-597)cccfs	p.P199fs	SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	199					negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						CCGAGGATGGGCCCCCCCGGAT	0.604													7	120	---	---	---	---					
TMPRSS6	164656	broad.mit.edu	37	22	37499435	37499436	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:37499435_37499436insG	ENST00000381792.2	-	2	162_163	c.22_23insC	c.(22-24)ggtfs	p.G8fs	TMPRSS6_ENST00000406856.1_Frame_Shift_Ins_p.G8fs|TMPRSS6_ENST00000346753.3_Frame_Shift_Ins_p.G17fs|TMPRSS6_ENST00000442782.2_Frame_Shift_Ins_p.G17fs|TMPRSS6_ENST00000406725.1_Frame_Shift_Ins_p.G8fs			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	17					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GCCAGCCACCTGGGGGGCCTCG	0.658													13	1037	---	---	---	---					
ATF4	468	broad.mit.edu	37	22	39917950	39917951	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:39917950_39917951insC	ENST00000337304.2	+	2	1281_1282	c.399_400insC	c.(397-402)caccccfs	p.HP133fs	ATF4_ENST00000396680.1_Frame_Shift_Ins_p.HP133fs|ATF4_ENST00000404241.2_Frame_Shift_Ins_p.HP133fs	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	133					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					CTAATAAGCAGCCCCCCCAGAC	0.525													7	273	---	---	---	---					
EP300	2033	broad.mit.edu	37	22	41574678	41574679	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:41574678_41574679insC	ENST00000263253.7	+	31	8182_8183	c.6963_6964insC	c.(6961-6966)caccccfs	p.HP2321fs	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2321					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CACAGTCCCAGCCCCCCCACTC	0.609			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				7	149	---	---	---	---					
RANGAP1	5905	broad.mit.edu	37	22	41650469	41650471	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:41650469_41650471delTCC	ENST00000455915.2	-	10	2570_2572	c.1101_1103delGGA	c.(1099-1104)gaa>ga	p.EE367del	RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del|RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del|RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	367	Asp/Glu-rich (highly acidic).				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ctcttctccttcctcctcctcct	0.562													7	715	---	---	---	---					
SREBF2	6721	broad.mit.edu	37	22	42271636	42271637	+	Frame_Shift_Ins	INS	-	-	C	rs79727196		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:42271636_42271637insC	ENST00000361204.4	+	7	1460_1461	c.1294_1295insC	c.(1294-1296)cccfs	p.P432fs		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	432	Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCTTCTGATGTCCCCCCCAGCC	0.520													18	548	---	---	---	---					
FAM109B	150368	broad.mit.edu	37	22	42473376	42473377	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:42473376_42473377insG	ENST00000321753.3	+	3	266_267	c.79_80insG	c.(79-81)gggfs	p.G27fs		NM_001002034.2	NP_001002034.2	Q6ICB4	SESQ2_HUMAN	family with sequence similarity 109, member B	27	PH.				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						CCTGCGCACCTGGGGGGGCCCA	0.634													9	172	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:42610947_42610948insG	ENST00000359486.3	-	1	500_501	c.364_365insC	c.(364-366)gggfs	p.G122fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGCTCCCCTGGGGGGGTCCA	0.564													34	991	---	---	---	---					
CERK	64781	broad.mit.edu	37	22	47086001	47086002	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:47086001_47086002insC	ENST00000216264.8	-	12	1540_1541	c.1428_1429insG	c.(1426-1431)ggagaafs	p.E477fs	CERK_ENST00000541677.1_Frame_Shift_Ins_p.E279fs|CERK_ENST00000471929.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	477					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	p.K477fs*>61(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AAGCGCTTCTTCCCCCCCTCCT	0.559													11	256	---	---	---	---					
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:47188443_47188444insC	ENST00000337137.4	+	2	255_256	c.89_90insC	c.(88-90)cccfs	p.P30fs	TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs|TBC1D22A_ENST00000380995.1_5'UTR	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	30						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGTGCCCAGCACCCCCCCTTTG	0.569													31	1095	---	---	---	---					
AMELX	265	broad.mit.edu	37	X	11316741	11316742	+	Frame_Shift_Ins	INS	-	-	C	rs2106416	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:11316741_11316742insC	ENST00000380712.3	+	6	328_329	c.260_261insC	c.(259-261)cccfs	p.P87fs	AMELX_ENST00000348912.4_Frame_Shift_Ins_p.P57fs|AMELX_ENST00000380714.3_Frame_Shift_Ins_p.P73fs|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000413512.3_Intron	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	73					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						TCCCAACAGCACCCCCCGACTC	0.594													7	383	---	---	---	---					
CA5B	11238	broad.mit.edu	37	X	15790675	15790676	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:15790675_15790676insG	ENST00000318636.3	+	4	533_534	c.397_398insG	c.(397-399)gggfs	p.G133fs	CA5B_ENST00000454127.2_Frame_Shift_Ins_p.G133fs	NM_007220.3	NP_009151.1	Q9Y2D0	CAH5B_HUMAN	carbonic anhydrase VB, mitochondrial	133					one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					CCATTTTCACTGGGGGGCCATC	0.495													13	695	---	---	---	---					
PRRG1	5638	broad.mit.edu	37	X	37312610	37312611	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:37312610_37312611insC	ENST00000542554.1	+	5	665_666	c.393_394insC	c.(391-396)ccccccfs	p.PP131fs	PRRG1_ENST00000543642.1_Frame_Shift_Ins_p.PP131fs|PRRG1_ENST00000449135.2_Frame_Shift_Ins_p.PP131fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000378628.4_Frame_Shift_Ins_p.PP131fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	131	Poly-Pro.					extracellular region|integral to plasma membrane	calcium ion binding	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TTATCACCCCACCCCCCCCACC	0.485													30	247	---	---	---	---					
USP9X	8239	broad.mit.edu	37	X	40982956	40982957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:40982956_40982957insC	ENST00000324545.7	+	2	708_709	c.75_76insC	c.(73-78)caccccfs	p.HP25fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.HP25fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	25				Q -> L (in Ref. 1; CAA66942).	BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GACAGTCTCAGCCCCCCCTCCA	0.540													11	363	---	---	---	---					
CFP	5199	broad.mit.edu	37	X	47485891	47485892	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:47485891_47485892insC	ENST00000247153.3	-	8	1208_1209	c.967_968insG	c.(967-969)gtgfs	p.V323fs	CFP_ENST00000396992.3_Frame_Shift_Ins_p.V323fs|CFP_ENST00000377005.2_Frame_Shift_Ins_p.V323fs	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	323	TSP type-1 5.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GGGGCTCCACTCCCCCCACGAG	0.604													11	208	---	---	---	---					
SSX1	6756	broad.mit.edu	37	X	48123305	48123306	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:48123305_48123306insC	ENST00000376919.3	+	6	555_556	c.419_420insC	c.(418-420)cccfs	p.P140fs		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						AAACAACTGCACCCCCCAGGAA	0.436			T	SS18	synovial sarcoma								8	597	---	---	---	---					
SSX1	6756	broad.mit.edu	37	X	48125730	48125731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:48125730_48125731insG	ENST00000376919.3	+	7	611_612	c.475_476insG	c.(475-477)gggfs	p.G159fs		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						AGGACCCAAAAGGGGGAAACAT	0.490			T	SS18	synovial sarcoma								7	1386	---	---	---	---					
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	Frame_Shift_Ins	INS	-	-	G	rs41305745	by1000genomes	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:48159107_48159108insG	ENST00000376909.1	-	6	487_488	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TTGGTTTTCCCGGGGGGCACAG	0.490													17	826	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:48207024_48207025insC	ENST00000298396.2	-	7	533_534	c.481_482insG	c.(481-483)acafs	p.T161fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						CCAGGCATGTTCCCCCCTTTTG	0.480													19	2428	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495													24	1106	---	---	---	---					
SHROOM4	57477	broad.mit.edu	37	X	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-	rs6614551		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:50350711_50350713delTCC	ENST00000376020.2	-	6	3454_3456	c.3429_3431delGGA	c.(3427-3432)gaa>ga	p.EE1149del	SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del|SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1149	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttctt	0.547													15	54	---	---	---	---					
GNL3L	54552	broad.mit.edu	37	X	54578339	54578341	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:54578339_54578341delGAA	ENST00000336470.4	+	12	1252_1254	c.1113_1115delGAA	c.(1111-1116)ggg>gg	p.GK371del	GNL3L_ENST00000360845.2_In_Frame_Del_p.GK371del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	371					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						ACCGTTTGGGGAAGAAGAAGAAG	0.557													10	849	---	---	---	---					
FOXO4	4303	broad.mit.edu	37	X	70321276	70321277	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:70321276_70321277insG	ENST00000374259.3	+	2	1528_1529	c.1196_1197insG	c.(1195-1197)cggfs	p.R399fs	FOXO4_ENST00000341558.3_Frame_Shift_Ins_p.R344fs	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	399					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					CTTCTGTTGCTGGGGGGGCTTC	0.634													7	84	---	---	---	---					
IL2RG	3561	broad.mit.edu	37	X	70327613	70327614	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:70327613_70327614insG	ENST00000374202.2	-	8	1173_1174	c.1082_1083insC	c.(1081-1083)ctgfs	p.L361fs	IL2RG_ENST00000456850.2_Frame_Shift_Ins_p.L171fs|IL2RG_ENST00000374188.3_Frame_Shift_Ins_p.L90fs	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	361					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GGGTGTAACATGGGGGGGCCCA	0.584									Severe Combined Immunodeficiency, X-linked				7	108	---	---	---	---					
ZCCHC12	170261	broad.mit.edu	37	X	117960135	117960136	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:117960135_117960136insC	ENST00000310164.2	+	4	1435_1436	c.928_929insC	c.(928-930)cccfs	p.P310fs		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GGTCATTGATTCCCCCCACAAT	0.564													10	655	---	---	---	---					
MAP7D3	79649	broad.mit.edu	37	X	135314193	135314194	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:135314193_135314194insG	ENST00000316077.9	-	8	1142_1143	c.922_923insC	c.(922-924)ggtfs	p.G308fs	MAP7D3_ENST00000370663.5_Frame_Shift_Ins_p.G290fs|MAP7D3_ENST00000370661.1_Frame_Shift_Ins_p.G273fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGCA	0.535													28	466	---	---	---	---					
CCDC27	148870	broad.mit.edu	37	1	3688024	3688025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:3688024_3688025insC	ENST00000294600.2	+	12	1992_1993	c.1908_1909insC	c.(1906-1911)gtccccfs	p.VP636fs		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	636										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GCGTCAAAGTGCCCCCCCTGCA	0.550													7	79	---	---	---	---					
ANGPTL7	10218	broad.mit.edu	37	1	11249984	11249984	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:11249984delA	ENST00000376819.3	+	1	587	c.348delA	c.(346-348)gcfs	p.A117fs	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	117					response to oxidative stress|signal transduction	extracellular region	receptor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		AGCTGCAGGCAGCACAGACGG	0.562													36	172	---	---	---	---					
ATP13A2	23400	broad.mit.edu	37	1	17316725	17316726	+	Frame_Shift_Ins	INS	-	-	G	rs77630788		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:17316725_17316726insG	ENST00000452699.1	-	21	2482_2483	c.2293_2294insC	c.(2293-2295)ggafs	p.G765fs	ATP13A2_ENST00000341676.5_Frame_Shift_Ins_p.G765fs|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Frame_Shift_Ins_p.G770fs	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	770					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CAGATGCTCCTGGGGGGCCACC	0.658													10	570	---	---	---	---					
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs58784721		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485													6	11	---	---	---	---					
IGSF21	84966	broad.mit.edu	37	1	18554419	18554420	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:18554419_18554420insC	ENST00000251296.1	+	2	481_482	c.98_99insC	c.(97-99)cccfs	p.P33fs		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	33	Ig-like 1.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		ATTGAGCCTCTCCCCCCTGTGG	0.574													7	387	---	---	---	---					
C1orf63	57035	broad.mit.edu	37	1	25573155	25573160	+	In_Frame_Del	DEL	GAACCC	GAACCC	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:25573155_25573160delGAACCC	ENST00000243189.7	-	2	571_576	c.295_300delGGGTTC	c.(295-300)del	p.GF99del	C1orf63_ENST00000431849.2_In_Frame_Del_p.GF99del|C1orf63_ENST00000417642.2_In_Frame_Del_p.GF92del	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63	99	Arg-rich.									breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATCTCCTGGTGAACCCGTAGCGCCTC	0.670													11	71	---	---	---	---					
LEPRE1	64175	broad.mit.edu	37	1	43223458	43223459	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:43223458_43223459insG	ENST00000236040.4	-	5	1115_1116	c.1075_1076insC	c.(1075-1077)tgafs	p.*359fs	LEPRE1_ENST00000296388.5_Frame_Shift_Ins_p.*359fs|LEPRE1_ENST00000397054.3_Frame_Shift_Ins_p.*359fs	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	359					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	p.R359S(2)		large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCTCACCTCACGGGGGCCGATG	0.535											OREG0013423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	1205	---	---	---	---					
IPP	3652	broad.mit.edu	37	1	46180107	46180115	+	In_Frame_Del	DEL	ATTGCTGAT	ATTGCTGAT	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:46180107_46180115delATTGCTGAT	ENST00000396478.3	-	8	1435_1443	c.1333_1341delATCAGCAAT	c.(1333-1341)del	p.ISN445del		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	445						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					CTATTCCTTCATTGCTGATGCCCCCAATT	0.388													18	52	---	---	---	---					
C1orf173	127254	broad.mit.edu	37	1	75038815	75038815	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:75038815delC	ENST00000326665.5	-	14	2797	c.2579delG	c.(2578-2580)gafs	p.G860fs	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	860	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGCTGCTTGTCCTATGGGGTC	0.537													7	593	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145584232	145584233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:145584232_145584233insC	ENST00000393045.2	+	11	1473_1474	c.1383_1384insC	c.(1381-1386)ctccccfs	p.LP461fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.LP426fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	461					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGGAGGATCTGCCCCCTACCAA	0.500													7	855	---	---	---	---					
FLG	2312	broad.mit.edu	37	1	152276875	152276875	+	Frame_Shift_Del	DEL	C	C	-	rs116505293	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:152276875delC	ENST00000368799.1	-	3	10522	c.10487delG	c.(10486-10488)gafs	p.G3496fs	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3496	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGCCATCTCCTGATTGTTC	0.582									Ichthyosis				33	806	---	---	---	---					
DCST2	127579	broad.mit.edu	37	1	155006136	155006137	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:155006136_155006137insC	ENST00000368424.3	-	1	99_100	c.41_42insG	c.(40-42)ggafs	p.G14fs	DCST2_ENST00000295536.5_Frame_Shift_Ins_p.G14fs	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	14						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TAGGCTCCTCTCCCCCCAAGGG	0.589													8	306	---	---	---	---					
CACNA1E	777	broad.mit.edu	37	1	181549749	181549750	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:181549749_181549750insC	ENST00000526775.1	+	6	953_954	c.788_789insC	c.(787-789)gccfs	p.A263fs	CACNA1E_ENST00000358338.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000367573.2_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000367570.1_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000360108.3_Frame_Shift_Ins_p.A263fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	263					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAAGGATTTGACCCCCCTCACC	0.505													8	2193	---	---	---	---					
DNMT3A	1788	broad.mit.edu	37	2	25523008	25523009	+	Splice_Site	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:25523008_25523009insG	ENST00000264709.3	-	3	513_514	c.177_splice	c.e3+1	p.R59_splice	DNMT3A_ENST00000321117.5_Splice_Site_p.R59_splice|DNMT3A_ENST00000406659.3_Splice_Site_p.R59_splice	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	59					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACACTCACCGGGGGGTGCTT	0.649			"""Mis, F, N, S"""		AML								11	400	---	---	---	---					
GCKR	2646	broad.mit.edu	37	2	27721130	27721131	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:27721130_27721131insG	ENST00000264717.2	+	4	357_358	c.294_295insG	c.(292-297)gaggggfs	p.EG98fs	GCKR_ENST00000424318.2_5'UTR	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	98	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					AGGAGCCAGATGGGGGGCTGGT	0.530													7	517	---	---	---	---					
C2orf16	84226	broad.mit.edu	37	2	27804287	27804288	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:27804287_27804288insC	ENST00000408964.2	+	1	4899_4900	c.4848_4849insC	c.(4846-4851)agccccfs	p.SP1616fs		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1616	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATCACTGCAGTCCCCCCGAGAG	0.569													9	494	---	---	---	---					
NAT8	9027	broad.mit.edu	37	2	73868608	73868609	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:73868608_73868609insC	ENST00000272425.3	-	2	296_297	c.147_148insG	c.(145-150)ggccctfs	p.GP49fs		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	49					gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						AGGGCGAGGGGCCCCCCAAGTA	0.614													8	696	---	---	---	---					
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:98427639delT	ENST00000186436.5	-	18	2148	c.1920delA	c.(1918-1920)aafs	p.K640fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	640						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCCTCTAATTTTTTTGCAG	0.393													7	660	---	---	---	---					
ANKRD44	91526	broad.mit.edu	37	2	197953472	197953473	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:197953472_197953473insT	ENST00000328737.2	-	12	1210_1211	c.1134_1135insA	c.(1132-1137)aattggfs	p.NW378fs	ANKRD44_ENST00000409153.1_Frame_Shift_Ins_p.NW403fs|ANKRD44_ENST00000337207.5_Frame_Shift_Ins_p.NW378fs|ANKRD44_ENST00000477852.1_5'UTR|ANKRD44_ENST00000539527.1_Frame_Shift_Ins_p.NW331fs|ANKRD44_ENST00000282272.8_Frame_Shift_Ins_p.NW395fs|ANKRD44_ENST00000450567.1_Frame_Shift_Ins_p.NW378fs			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	403							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTCTTCCAAATTTATCTGGGG	0.381													66	150	---	---	---	---					
EIF2B5	8893	broad.mit.edu	37	3	183855702	183855703	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:183855702_183855703insA	ENST00000273783.3	+	4	645_646	c.523_524insA	c.(523-525)aaafs	p.K175fs	EIF2B5_ENST00000498831.1_3'UTR|EIF2B5_ENST00000444495.1_Frame_Shift_Ins_p.K175fs	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	175					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ACGGAAGCTAGAAAAAAATGTT	0.480													7	581	---	---	---	---					
TNK2	10188	broad.mit.edu	37	3	195597005	195597006	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:195597005_195597006insG	ENST00000333602.6	-	11	2139_2140	c.1522_1523insC	c.(1522-1524)gcafs	p.A508fs	TNK2_ENST00000392400.1_Frame_Shift_Ins_p.A508fs|TNK2_ENST00000381916.2_Frame_Shift_Ins_p.A571fs|TNK2_ENST00000428187.1_Frame_Shift_Ins_p.A540fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	508				Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TCCTAGATGCTGGGGGGGCCGG	0.614													3	3	---	---	---	---					
HTT	3064	broad.mit.edu	37	4	3117148	3117160	+	Frame_Shift_Del	DEL	AGTTGGCTACTAA	AGTTGGCTACTAA	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr4:3117148_3117160delAGTTGGCTACTAA	ENST00000355072.5	+	7	1010_1022	c.865_877delAGTTGGCTACTAA	c.(865-879)atfs	p.SWLLN289fs		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	289					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)		ATATTTCTATAGTTGGCTACTAAATGTGCTCTT	0.469													33	151	---	---	---	---					
LOC100653061	100653061	broad.mit.edu	37	5	34175819	34175820	+	RNA	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:34175819_34175820insC	ENST00000514048.1	-	0	452																											TAAACCAGCTTCCCCCCTTTGT	0.455													2	4	---	---	---	---					
SPEF2	79925	broad.mit.edu	37	5	35700726	35700726	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:35700726delA	ENST00000440995.2	+	16	2255	c.2255delA	c.(2254-2256)cafs	p.Q752fs	SPEF2_ENST00000356031.3_Frame_Shift_Del_p.Q757fs|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Frame_Shift_Del_p.Q752fs			Q9C093	SPEF2_HUMAN	sperm flagellar 2	757					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAAAAGCACAAAAATCCACA	0.388													73	85	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36608557	36608558	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:36608557_36608558insG	ENST00000265113.4	+	2	508_509	c.32_33insG	c.(31-33)aggfs	p.R11fs	SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.R11fs|SLC1A3_ENST00000506725.1_3'UTR	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	11					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	GAGCCCAAGATGGGGGGCAGGA	0.455													8	377	---	---	---	---					
BHMT	635	broad.mit.edu	37	5	78417151	78417152	+	Frame_Shift_Ins	INS	-	-	C	rs60947960	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:78417151_78417152insC	ENST00000274353.5	+	5	695_696	c.588_589insC	c.(586-591)gtccccfs	p.VP196fs	BHMT_ENST00000524080.1_Intron|DMGDH_ENST00000520388.1_5'UTR	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	196	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	TGCATGGCGTGCCCCCCGGCGA	0.490													8	711	---	---	---	---					
PCDHB11	56125	broad.mit.edu	37	5	140579531	140579532	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:140579531_140579532insG	ENST00000354757.3	+	1	184_185	c.184_185insG	c.(184-186)gggfs	p.G62fs	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		62	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTGTCCTCACGGGGGGCTCGG	0.510													9	350	---	---	---	---					
PCDHGA5	56110	broad.mit.edu	37	5	140745935	140745936	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:140745935_140745936insC	ENST00000518069.1	+	1	2038_2039	c.2038_2039insC	c.(2038-2040)cccfs	p.P680fs	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTATCAAGACCCCCATTGAC	0.604													11	1676	---	---	---	---					
GPRIN1	114787	broad.mit.edu	37	5	176026664	176026665	+	Frame_Shift_Ins	INS	-	-	G	rs139277418	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:176026664_176026665insG	ENST00000303991.4	-	2	348_349	c.171_172insC	c.(169-174)ccggcafs	p.A58fs		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	58						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGGTGTGCCTGGGGGGTGCAG	0.658													8	217	---	---	---	---					
DDX39B	7919	broad.mit.edu	37	6	31508238	31508239	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr6:31508238_31508239insC	ENST00000417556.2	-	2	701_702	c.71_72insG	c.(70-72)ggafs	p.G24fs	DDX39B_ENST00000396172.1_Frame_Shift_Ins_p.G24fs|DDX39B_ENST00000415382.2_Frame_Shift_Ins_p.D20fs|DDX39B_ENST00000453105.2_Frame_Shift_Ins_p.D20fs|DDX39B_ENST00000458640.1_Frame_Shift_Ins_p.G24fs|DDX39B_ENST00000376177.2_Frame_Shift_Ins_p.G24fs|DDX39B_ENST00000449074.2_Frame_Shift_Ins_p.G24fs|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	24					intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CAGCCCCATCTCCCCCAGCTGC	0.569													7	278	---	---	---	---					
ADCYAP1R1	117	broad.mit.edu	37	7	31142950	31142959	+	Frame_Shift_Del	DEL	CGTGTTTGAG	CGTGTTTGAG	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:31142950_31142959delCGTGTTTGAG	ENST00000304166.4	+	14	1435_1444	c.1146_1155delCGTGTTTGAG	c.(1144-1155)ctfs	p.LVFE382fs	ADCYAP1R1_ENST00000409363.1_Frame_Shift_Del_p.LVFE361fs|ADCYAP1R1_ENST00000396211.2_Frame_Shift_Del_p.LVFE410fs|ADCYAP1R1_ENST00000409489.1_Frame_Shift_Del_p.LVFE438fs	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	382					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GGGAAAGACTCGTGTTTGAGCTGGGGCTGG	0.586													31	97	---	---	---	---					
DTX2	113878	broad.mit.edu	37	7	76112242	76112243	+	Frame_Shift_Ins	INS	-	-	C	rs143934697		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:76112242_76112243insC	ENST00000324432.5	+	5	1196_1197	c.686_687insC	c.(685-687)cccfs	p.P229fs	DTX2_ENST00000307569.8_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000446820.2_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000413936.2_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000430490.2_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000446600.1_Frame_Shift_Ins_p.P138fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	229					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GTCCCCCAGCACCCCCCACACA	0.649													20	606	---	---	---	---					
GINS4	84296	broad.mit.edu	37	8	41397486	41397487	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr8:41397486_41397487insC	ENST00000523277.2	+	6	614_615	c.447_448insC	c.(445-450)atccccfs	p.IP149fs	GINS4_ENST00000518671.1_Frame_Shift_Ins_p.IP149fs|GINS4_ENST00000276533.3_Frame_Shift_Ins_p.IP149fs|RP11-360L9.4_ENST00000523081.1_RNA			Q9BRT9	SLD5_HUMAN	GINS complex subunit 4 (Sld5 homolog)	149					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			TGAAGCACATGCCCCCTAACTT	0.530													7	2677	---	---	---	---					
GLDC	2731	broad.mit.edu	37	9	6536174	6536174	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr9:6536174delA	ENST00000321612.6	-	23	2878	c.2728delT	c.(2728-2730)cgfs	p.S910fs		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	910					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TTGTCCTCCGACTCAGTGGGC	0.572													7	69	---	---	---	---					
A1CF	29974	broad.mit.edu	37	10	52580311	52580311	+	Splice_Site	DEL	C	C	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr10:52580311delC	ENST00000395489.2	-	10	1243		c.e10+1		A1CF_ENST00000373993.1_Splice_Site|A1CF_ENST00000395495.1_Splice_Site|A1CF_ENST00000373997.3_Splice_Site|A1CF_ENST00000493415.1_Splice_Site|A1CF_ENST00000374001.1_Splice_Site|A1CF_ENST00000282641.2_Splice_Site|A1CF_ENST00000373995.3_Splice_Site	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor						cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTCTACCTTACCTTGCCATTT	0.423													11	80	---	---	---	---					
ART5	116969	broad.mit.edu	37	11	3660979	3660980	+	Frame_Shift_Ins	INS	-	-	G	rs74708481		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:3660979_3660980insG	ENST00000397068.3	-	2	1071_1072	c.679_680insC	c.(679-681)tgafs	p.*227fs	ART5_ENST00000359918.4_Frame_Shift_Ins_p.*227fs|ART5_ENST00000397067.3_Intron	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	227						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGACTTCATGGGGGGGAATC	0.500													7	165	---	---	---	---					
MYRF	745	broad.mit.edu	37	11	61536775	61536776	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:61536775_61536776insC	ENST00000278836.5	+	4	538_539	c.442_443insC	c.(442-444)cccfs	p.P148fs	MYRF_ENST00000265460.5_Frame_Shift_Ins_p.P139fs|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		CGAGGCCTACTCCCCCCAGCAG	0.678													4	6	---	---	---	---					
RELA	5970	broad.mit.edu	37	11	65422045	65422046	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:65422045_65422046insG	ENST00000406246.3	-	11	1720_1721	c.1459_1460insC	c.(1459-1461)cacfs	p.H487fs	RELA_ENST00000525693.1_3'UTR|RELA_ENST00000308639.9_Frame_Shift_Ins_p.H484fs	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	487					anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						CTCAGTTGTGTGGGGGGCCACA	0.624													7	295	---	---	---	---					
YIF1A	10897	broad.mit.edu	37	11	66055104	66055105	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:66055104_66055105insG	ENST00000376901.4	-	4	575_576	c.391_392insC	c.(391-393)gcafs	p.A131fs	YIF1A_ENST00000471387.2_5'UTR|YIF1A_ENST00000359461.6_Frame_Shift_Ins_p.A131fs	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	131					protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane		p.R131L(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						GAGGTCTTGCCGGGGGGGCAGA	0.624													9	74	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89424222	89424223	+	RNA	INS	-	-	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:89424222_89424223insT	ENST00000532352.1	+	0	1685_1686							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GATTGTCGAGATTATGCTGTAG	0.376													51	100	---	---	---	---					
SLC6A12	6539	broad.mit.edu	37	12	301777	301778	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:301777_301778insG	ENST00000428720.1	-	15	2310_2311	c.1567_1568insC	c.(1567-1569)caafs	p.Q523fs	SLC6A12_ENST00000536824.1_Frame_Shift_Ins_p.Q523fs|SLC6A12_ENST00000424061.2_Frame_Shift_Ins_p.Q523fs|SLC6A12_ENST00000397296.2_Frame_Shift_Ins_p.Q523fs|SLC6A12_ENST00000359674.4_Frame_Shift_Ins_p.Q523fs	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	523					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GTTGTACTTGAGGGGGGTGTAC	0.569													11	623	---	---	---	---					
CDK2	1017	broad.mit.edu	37	12	56363264	56363265	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:56363264_56363265delGA	ENST00000266970.4	+	5	732_733	c.492_493delGA	c.(490-495)gtccfs	p.VT164fs	CDK2_ENST00000354056.4_Intron|CDK2_ENST00000440311.2_Intron|CDK2_ENST00000556656.1_3'UTR|CDK2_ENST00000553376.1_Frame_Shift_Del_p.VT164fs	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	cyclin-dependent kinase 2	164	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol	ATP binding|cyclin-dependent protein kinase activity|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			CTCAGGTGGTGACCCTGTGGTA	0.535													36	173	---	---	---	---					
COQ10A	93058	broad.mit.edu	37	12	56662853	56662853	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:56662853delC	ENST00000308197.5	+	3	553	c.292delC	c.(292-294)agfs	p.Q98fs	COQ10A_ENST00000433805.2_Frame_Shift_Del_p.Q66fs|RP11-977G19.14_ENST00000546464.1_RNA|COQ10A_ENST00000546544.1_Frame_Shift_Del_p.Q81fs	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	98						mitochondrial inner membrane				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						GTACTCAATGCAGGAGATGTA	0.507													23	471	---	---	---	---					
PIP4K2C	79837	broad.mit.edu	37	12	57995030	57995031	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:57995030_57995031insC	ENST00000354947.5	+	9	1100_1101	c.1084_1085insC	c.(1084-1086)cccfs	p.P362fs	PIP4K2C_ENST00000550465.1_Frame_Shift_Ins_p.P344fs|PIP4K2C_ENST00000422156.3_Frame_Shift_Ins_p.P314fs|PIP4K2C_ENST00000540759.2_Frame_Shift_Ins_p.P362fs			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	362	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					TCTCCCAGGAGCCCCCCAGAAG	0.475													9	402	---	---	---	---					
ARHGEF25	115557	broad.mit.edu	37	12	58006824	58006825	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:58006824_58006825insC	ENST00000286494.4	+	2	669_670	c.209_210insC	c.(208-210)gccfs	p.A70fs	AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Frame_Shift_Ins_p.A109fs|AC025165.8_ENST00000356672.3_RNA	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	70					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						TGTTCCCCAGGCCCCCCAGGGC	0.619													11	840	---	---	---	---					
FRS2	10818	broad.mit.edu	37	12	69965989	69965989	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:69965989delT	ENST00000299293.2	+	9	1014	c.504delT	c.(502-504)ccfs	p.P168fs	FRS2_ENST00000549921.1_Frame_Shift_Del_p.P168fs|FRS2_ENST00000397997.2_Frame_Shift_Del_p.P168fs|FRS2_ENST00000550389.1_Frame_Shift_Del_p.P168fs	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	168					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GCAGACATCCTTCTGTGGGAA	0.478													89	328	---	---	---	---					
SLX4	84464	broad.mit.edu	37	16	3634840	3634841	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:3634840_3634841insG	ENST00000294008.3	-	13	5308_5309	c.4668_4669insC	c.(4666-4671)ccaagtfs	p.S1557fs		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1557	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ATGGGCACTTTGGGGGGCAAGT	0.500								Direct reversal of damage					11	820	---	---	---	---					
MGRN1	23295	broad.mit.edu	37	16	4700413	4700414	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:4700413_4700414insC	ENST00000399577.5	+	2	229_230	c.136_137insC	c.(136-138)cccfs	p.P46fs	MGRN1_ENST00000588994.1_Frame_Shift_Ins_p.P46fs|MGRN1_ENST00000262370.7_Frame_Shift_Ins_p.P46fs|MGRN1_ENST00000415496.1_Frame_Shift_Ins_p.P46fs|MGRN1_ENST00000586183.1_Frame_Shift_Ins_p.P46fs	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	46					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						GAAATTCGACACCCCCCACCCT	0.465													43	1739	---	---	---	---					
TNRC6A	27327	broad.mit.edu	37	16	24807240	24807240	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:24807240delA	ENST00000395799.3	+	9	3670	c.3541delA	c.(3541-3543)aafs	p.K1182fs	TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1182	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCTGAGTGGCAAAAAAAGGAG	0.398													7	368	---	---	---	---					
AQP8	343	broad.mit.edu	37	16	25232874	25232875	+	Frame_Shift_Ins	INS	-	-	G	rs141164855		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:25232874_25232875insG	ENST00000219660.5	+	3	482_483	c.357_358insG	c.(355-360)ctggggfs	p.LG119fs	AQP8_ENST00000566125.1_Frame_Shift_Ins_p.LG113fs	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	119					cellular response to cAMP	integral to plasma membrane	water channel activity	p.M122fs*10(2)		NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		CACAGCTGCTCGGGGGGATGCT	0.629													7	310	---	---	---	---					
ATPAF2	91647	broad.mit.edu	37	17	17927959	17927961	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:17927959_17927961delATT	ENST00000474627.3	-	5	634_636	c.480_482delAAT	c.(478-483)ccc>cc	p.PI160del	ATPAF2_ENST00000585101.1_3'UTR|ATPAF2_ENST00000469327.1_5'UTR	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	160					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					CCATTCGATGATTGGATCCCACT	0.468													17	36	---	---	---	---					
KRT33B	3884	broad.mit.edu	37	17	39525930	39525931	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:39525930_39525931insG	ENST00000251646.3	-	1	121_122	c.72_73insC	c.(70-75)ccgctgfs	p.L25fs		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	25	Head.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				CCGTGGCAGCTGGGGGGCACAC	0.649													8	99	---	---	---	---					
B3GNTL1	146712	broad.mit.edu	37	17	81006371	81006372	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:81006371_81006372insC	ENST00000320865.3	-	3	265_266	c.252_253insG	c.(250-255)ggacgafs	p.R85fs	B3GNTL1_ENST00000571954.1_5'UTR|B3GNTL1_ENST00000576599.1_5'UTR	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	85							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GGAGAATCGTGCCCCCCAATGA	0.441													8	331	---	---	---	---					
CTIF	9811	broad.mit.edu	37	18	46284307	46284308	+	Frame_Shift_Ins	INS	-	-	G	rs111264927		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr18:46284307_46284308insG	ENST00000256413.3	+	8	897_898	c.602_603insG	c.(601-603)cggfs	p.R201fs	CTIF_ENST00000382998.4_Frame_Shift_Ins_p.R201fs	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	201	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	p.P153L(1)|p.P201L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CAGAGACCTCCGGGGGGCAACA	0.629													7	567	---	---	---	---					
CNDP2	55748	broad.mit.edu	37	18	72168667	72168668	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr18:72168667_72168668insG	ENST00000324262.4	+	3	480_481	c.164_165insG	c.(163-165)tggfs	p.W55fs	CNDP2_ENST00000579847.1_Frame_Shift_Ins_p.W55fs|CNDP2_ENST00000324301.8_Frame_Shift_Ins_p.W55fs	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	55						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GTTAAGCAGTTGGGGGGCTCTG	0.520													12	581	---	---	---	---					
ZNF561	93134	broad.mit.edu	37	19	9727836	9727838	+	In_Frame_Del	DEL	CGT	CGT	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:9727836_9727838delCGT	ENST00000302851.3	-	4	487_489	c.124_126delACG	c.(124-126)del	p.T42del	ZNF561_ENST00000326044.5_In_Frame_Del_p.T42del|ZNF561_ENST00000354661.4_5'UTR|ZNF561_ENST00000424629.1_5'UTR|ZNF561_ENST00000495503.1_5'UTR	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						CATCATCAAACGTCACTGAATCC	0.443													43	69	---	---	---	---					
TYK2	7297	broad.mit.edu	37	19	10463112	10463113	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:10463112_10463113insG	ENST00000525621.1	-	23	3796_3797	c.3315_3316insC	c.(3313-3318)cccgaafs	p.E1106fs	TYK2_ENST00000529422.1_Intron|TYK2_ENST00000524462.1_Frame_Shift_Ins_p.E921fs|TYK2_ENST00000264818.6_Frame_Shift_Ins_p.E1106fs	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1106	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GCTCTCACCGTGGGGGGGCTCT	0.599													14	164	---	---	---	---					
MIR498	574460	broad.mit.edu	37	19	54177507	54177508	+	RNA	DEL	TA	TA	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:54177507_54177508delTA	ENST00000385134.1	+	0	57_58					NR_030182.1																						GGCGTTTTTCTATAACTGGATG	0.450													30	293	---	---	---	---					
KIR3DL1	3811	broad.mit.edu	37	19	55331443	55331443	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:55331443delG	ENST00000391728.4	+	4	664	c.631delG	c.(631-633)atfs	p.D211fs	KIR3DL1_ENST00000358178.4_Frame_Shift_Del_p.D116fs|KIR3DL1_ENST00000326542.7_Frame_Shift_Del_p.D211fs|KIR3DL1_ENST00000541392.1_Frame_Shift_Del_p.D211fs|KIR3DL1_ENST00000538269.1_Frame_Shift_Del_p.D211fs|KIR3DL1_ENST00000402254.2_Frame_Shift_Del_p.D211fs	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AGCTCCCAGTGATCCCCTGGA	0.532													8	1513	---	---	---	---					
MIR646HG	284757	broad.mit.edu	37	20	58889663	58889666	+	RNA	DEL	CATC	CATC	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr20:58889663_58889666delCATC	ENST00000432910.1	+	0	332					NR_046099.1																						ttctcccattcatccatcctccca	0.539													2	4	---	---	---	---					
PCMTD2	55251	broad.mit.edu	37	20	62904862	62904863	+	Frame_Shift_Ins	INS	-	-	C	rs146314236		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr20:62904862_62904863insC	ENST00000308824.6	+	6	1122_1123	c.995_996insC	c.(994-996)gccfs	p.A332fs	PCMTD2_ENST00000369758.3_Frame_Shift_Ins_p.A305fs|PCMTD2_ENST00000299468.7_Intron|PCMTD2_ENST00000266078.6_Frame_Shift_Ins_p.A108fs	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	332						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ACAAAGCCAGACCCCCCAGTGA	0.510													7	255	---	---	---	---					
ICOSLG	23308	broad.mit.edu	37	21	45655412	45655413	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr21:45655412_45655413insG	ENST00000407780.3	-	4	566_567	c.439_440insC	c.(439-441)cagfs	p.Q147fs	ICOSLG_ENST00000344330.4_Frame_Shift_Ins_p.Q147fs|ICOSLG_ENST00000400379.3_Frame_Shift_Ins_p.Q147fs|ICOSLG_ENST00000400377.3_Frame_Shift_Ins_p.Q30fs			O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	147	Ig-like C2-type.				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		GGAGGGGCTGTGGGGGGCGCTG	0.579													12	281	---	---	---	---					
SCUBE1	80274	broad.mit.edu	37	22	43619183	43619184	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr22:43619183_43619184insG	ENST00000360835.3	-	11	1372_1373	c.1246_1247insC	c.(1246-1248)ggcfs	p.G416fs		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	416					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CAGCTGGGCCCGGGGGGAGGTC	0.644													10	423	---	---	---	---					
SSX1	6756	broad.mit.edu	37	X	48125730	48125731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chrX:48125730_48125731insG	ENST00000376919.3	+	7	611_612	c.475_476insG	c.(475-477)gggfs	p.G159fs		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						AGGACCCAAAAGGGGGAAACAT	0.490			T	SS18	synovial sarcoma								7	1386	---	---	---	---