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
KATNAL2	83473	broad.mit.edu	37	18	44595947	44595947	+	Silent	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr18:44595947A>G	ENST00000245121.5	+	10	962	c.768A>G	c.(766-768)agA>agG	p.R256R	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Silent_p.R328R	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	328						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						GCAAATGGAGAGGGGATTCAG	0.373000													6	514					0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142229761	142229761	+	Missense_Mutation	SNP	C	C	A	rs61995883		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:142229761C>A	ENST00000519067.1	-	3	748	c.445G>T	c.(445-447)Gcc>Tcc	p.A149S	SLC45A4_ENST00000024061.3_Missense_Mutation_p.A149S|SLC45A4_ENST00000433583.2_Missense_Mutation_p.A142S|SLC45A4_ENST00000517878.1_Missense_Mutation_p.A200S			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	200					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GCAGAGAAGGCGTGGATGTTG	0.672000													3	37					0.150653	0.154618	1	1	0
KCNN3	3782	broad.mit.edu	37	1	154705486	154705486	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:154705486C>T	ENST00000271915.3	-	4	1898	c.1583G>A	c.(1582-1584)gGc>gAc	p.G528D	KCNN3_ENST00000358505.2_Missense_Mutation_p.G215D|KCNN3_ENST00000361147.4_Missense_Mutation_p.G223D	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	533						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			CACCATGATGCCAGTGAGGAG	0.532000													4	306					0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356833	37356833	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:37356833T>C	ENST00000217420.1	+	2	1392	c.1129T>C	c.(1129-1131)Tcc>Ccc	p.S377P		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	377					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CCTGCCCGGCTCCATCCGCGC	0.617000													4	71					0	0	1	0	0
DBR1	51163	broad.mit.edu	37	3	137880920	137880920	+	Silent	SNP	C	C	T	rs148562956	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:137880920C>T	ENST00000260803.4	-	8	1599	c.1446G>A	c.(1444-1446)acG>acA	p.T482T	DBR1_ENST00000505015.2_Silent_p.T248T	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	482						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TGGAATCCACCGTATCATCAG	0.473000													14	1396					0	0	1	0	0
MAP4K1	11184	broad.mit.edu	37	19	39103366	39103366	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:39103366C>T	ENST00000591517.1	-	9	578	c.550G>A	c.(550-552)Gca>Aca	p.A184T	MAP4K1_ENST00000586296.1_Missense_Mutation_p.A184T|MAP4K1_ENST00000396857.2_Missense_Mutation_p.A184T|MAP4K1_ENST00000589130.1_Missense_Mutation_p.A180T|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000423454.2_5'UTR	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	184	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCACAGCTGCCACTTCCGGA	0.612000													4	238					0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33296949	33296949	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr21:33296949C>T	ENST00000270112.2	+	2	791	c.431C>T	c.(430-432)cCt>cTt	p.P144L		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	144	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GAGCTGTGCCCTGGGGGCAAC	0.537000													7	567					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99456415	99456415	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:99456415G>A	ENST00000268035.6	+	8	2343	c.1732G>A	c.(1732-1734)Gcc>Acc	p.A578T	IGF1R_ENST00000558762.1_Missense_Mutation_p.A578T	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	578	Fibronectin type-III 1.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	p.A578T(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GACTCAGTACGCCGTTTACGT	0.567000													20	2927					0	0	1	0	0
NDC80	10403	broad.mit.edu	37	18	2610835	2610835	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr18:2610835T>A	ENST00000261597.4	+	16	1948	c.1766T>A	c.(1765-1767)gTt>gAt	p.V589D		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	589	Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TTAGAGATGGTTGCTACACAT	0.373000													7	442					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128301933	128301933	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:128301933T>A	ENST00000262462.4	+	1	1113	c.103T>A	c.(103-105)Ttg>Atg	p.L35M	SLC27A6_ENST00000395266.1_Missense_Mutation_p.L35M|SLC27A6_ENST00000506176.1_Missense_Mutation_p.L35M			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	35					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CTGGTTCGTGTTGAAGGTGGT	0.468000													19	2490					0	0	1	0	0
PTOV1	53635	broad.mit.edu	37	19	50360380	50360380	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:50360380G>A	ENST00000391842.1	+	6	877	c.707G>A	c.(706-708)cGc>cAc	p.R236H	AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000601675.1_Missense_Mutation_p.R236H|PTOV1_ENST00000221557.9_Missense_Mutation_p.R204H|PTOV1_ENST00000600603.1_Missense_Mutation_p.R204H|PTOV1_ENST00000599732.1_Missense_Mutation_p.R236H|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000601638.1_Missense_Mutation_p.R204H	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	236	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		ATCACCACCCGCAAGCAGGTG	0.617000													5	578					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123785731	123785731	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:123785731A>C	ENST00000223642.1	-	10	1096	c.1067T>G	c.(1066-1068)tTg>tGg	p.L356W		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	356					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	AGTAGCAACCAAATTCAGTTT	0.433000													4	211					0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113487242	113487242	+	Silent	SNP	C	C	T	rs146801787		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:113487242C>T	ENST00000487903.1	+	14	1552	c.1464C>T	c.(1462-1464)agC>agT	p.S488S	ATP11A_ENST00000375630.2_Silent_p.S488S|ATP11A_ENST00000375645.3_Silent_p.S488S|ATP11A_ENST00000283558.8_Silent_p.S488S			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	488					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)				ACGATGACAGCGTAGACGGCC	0.587000													5	253					0	0	1	0	0
CCDC97	90324	broad.mit.edu	37	19	41822665	41822665	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:41822665G>A	ENST00000269967.3	+	2	545	c.423G>A	c.(421-423)cgG>cgA	p.R141R		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	141										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						AGGTGGCCCGGCAGGGCACTG	0.687000													4	191					0	0	1	0	0
CHMP4A	29082	broad.mit.edu	37	14	24679089	24679089	+	Silent	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:24679089T>A	ENST00000347519.6	-	6	1092	c.792A>T	c.(790-792)gtA>gtT	p.V264V	CHMP4A_ENST00000542700.2_5'UTR|TM9SF1_ENST00000556387.1_Intron|AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000530611.1_Intron	NM_014169.3	NP_054888.2			charged multivesicular body protein 4A											NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		TTTATCAGGATACCCACTCAG	0.438000													11	1621					0	0	1	0	0
KIAA1147	57189	broad.mit.edu	37	7	141362533	141362533	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:141362533G>A	ENST00000536163.1	-	9	1290	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	KIAA1147_ENST00000482493.1_Missense_Mutation_p.R327W	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	431										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					AGAAAGCTCCGGTCTCCTTGG	0.567000													5	365					0	0	1	0	0
ADAT2	134637	broad.mit.edu	37	6	143771731	143771731	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:143771731G>A	ENST00000237283.8	-	1	79	c.65C>T	c.(64-66)aCc>aTc	p.T22I	ADAT2_ENST00000367593.1_5'UTR	NM_182503.2	NP_872309.2	Q7Z6V5	ADAT2_HUMAN	adenosine deaminase, tRNA-specific 2	22					tRNA processing		hydrolase activity|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)	8				OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)		CCACTTTTCGGTCTCCTCTGC	0.657000													6	279					0	0	1	0	0
NCOA5	57727	broad.mit.edu	37	20	44691382	44691382	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:44691382C>T	ENST00000290231.6	-	8	1461	c.1297G>A	c.(1297-1299)Gcc>Acc	p.A433T		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	433					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)				AGGATTTTGGCCTGAAGCTCT	0.582000													6	373					0	0	1	0	0
ZNF264	9422	broad.mit.edu	37	19	57716795	57716795	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:57716795G>A	ENST00000263095.6	+	3	605	c.191G>A	c.(190-192)tGc>tAc	p.C64Y	ZNF264_ENST00000536056.1_Missense_Mutation_p.C64Y	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	64	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GAGCTGATCTGCCACCTAGAG	0.512000													7	85					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162555	90162555	+	RNA	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:90162555C>T	ENST00000567960.1	+	0	1291				TUBB8P7_ENST00000564451.1_RNA																							ATGCCACGGCCGAGGAGGAGG	0.522000													4	163					0	0	1	0	0
NR1H3	10062	broad.mit.edu	37	11	47283429	47283429	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:47283429G>A	ENST00000481889.2	+	5	1073	c.905G>A	c.(904-906)aGc>aAc	p.S302N	NR1H3_ENST00000441012.2_Intron|NR1H3_ENST00000529540.1_Intron|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000467728.1_Intron|NR1H3_ENST00000527949.1_Intron|NR1H3_ENST00000395397.3_Intron|NR1H3_ENST00000407404.1_Intron			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	198	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TCCAAGACCAGCCCTCCTAGT	0.582000													5	655					0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33410982	33410982	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:33410982C>T	ENST00000418600.2	+	15	2754	c.2653C>T	c.(2653-2655)Cct>Tct	p.P885S	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P885S|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.P826S|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	885					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						GGGGCTACGGCCTGCGCCTGC	0.677000													7	291					0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17819097	17819097	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:17819097A>T	ENST00000545871.1	-	3	1494	c.1034T>A	c.(1033-1035)cTg>cAg	p.L345Q	RAI2_ENST00000331511.1_Missense_Mutation_p.L345Q|RAI2_ENST00000360011.1_Missense_Mutation_p.L345Q|RAI2_ENST00000415486.3_Missense_Mutation_p.L295Q|RAI2_ENST00000451717.1_Missense_Mutation_p.L345Q	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	345					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					TGCCACTGACAGGTCTAGGGC	0.562000													6	216					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60741933	60741933	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:60741933G>A	ENST00000303375.5	+	2	545	c.143G>A	c.(142-144)aGc>aAc	p.S48N		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	48	Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CTCATCTTCAGCCATGGACTG	0.632000													5	361					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53804535	53804535	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:53804535G>A	ENST00000288139.3	+	33	4178	c.4060G>A	c.(4060-4062)Gaa>Aaa	p.E1354K	CACNA1D_ENST00000350061.5_Missense_Mutation_p.E1334K|CACNA1D_ENST00000422281.2_Missense_Mutation_p.E1319K|CACNA1D_ENST00000540742.1_Missense_Mutation_p.E226K	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1334					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CAGCAGGGGGGAAGGCATCCG	0.448000													6	284					0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148004656	148004656	+	Silent	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:148004656A>G	ENST00000369219.1	-	22	2674	c.2658T>C	c.(2656-2658)ttT>ttC	p.F886F				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	886	NBPF 10.					cytoplasm				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)					GCTCTTCCTCAAATGAGTAAA	0.433000													10	1336					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1219701	1219701	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:1219701G>A	ENST00000304460.10	+	10	1516	c.1460G>A	c.(1459-1461)aGc>aAc	p.S487N		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	487					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTGCTGGACAGCTATGCCGGC	0.607000													8	39					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150923430	150923430	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:150923430T>C	ENST00000271640.5	+	13	2267	c.2077T>C	c.(2077-2079)Tgt>Cgt	p.C693R	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.C693R	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	693					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	p.C693R(1)		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)			TCCCCTATCCTGTGTCAATGA	0.458000													41	247					0	0	1	0	0
GATAD2A	54815	broad.mit.edu	37	19	19606584	19606584	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:19606584G>A	ENST00000404158.1	+	8	1064	c.646G>A	c.(646-648)Ggc>Agc	p.G216S	GATAD2A_ENST00000252577.5_Missense_Mutation_p.G216S|GATAD2A_ENST00000537887.1_Intron|GATAD2A_ENST00000494516.1_Intron|GATAD2A_ENST00000358713.3_Missense_Mutation_p.G216S|GATAD2A_ENST00000429563.2_Missense_Mutation_p.G43S|GATAD2A_ENST00000360315.3_Missense_Mutation_p.G216S			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	216					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						TCGGATGCCCGGCAGTGTCAT	0.602000													4	81					0	0	1	0	0
STRIP1	85369	broad.mit.edu	37	1	110594473	110594473	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:110594473C>T	ENST00000369795.3	+	20	2252	c.2230C>T	c.(2230-2232)Cgg>Tgg	p.R744W	STRIP1_ENST00000369796.1_Missense_Mutation_p.R649W	NM_033088.2	NP_149079.2			striatin interacting protein 1																		CCAGAAGGTGCGGCATCGGCT	0.537000													4	443					0	0	1	0	0
SMOC1	64093	broad.mit.edu	37	14	70480174	70480174	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:70480174G>A	ENST00000381280.4	+	10	1265	c.1012G>A	c.(1012-1014)Gcc>Acc	p.A338T	SMOC1_ENST00000361956.3_Missense_Mutation_p.A338T	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	338					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CATGGTTCAGGCCATTAACTC	0.488000											OREG0022771	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	147					0	0	1	0	0
CHST12	55501	broad.mit.edu	37	7	2473128	2473128	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:2473128C>T	ENST00000258711.6	+	2	989	c.854C>T	c.(853-855)cCc>cTc	p.P285L		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	285					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		ACCAGCCTGCCCGCCTCGGCG	0.652000													4	202					0	0	1	0	0
OR13D1	286365	broad.mit.edu	37	9	107457094	107457094	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:107457094T>A	ENST00000318763.5	+	1	435	c.392T>A	c.(391-393)cTg>cAg	p.L131Q		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						GGCTGTGCTCTGCAGATGGTT	0.483000													6	477					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8168629	8168629	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:8168629G>C	ENST00000314666.6	+	19	2437	c.2304G>C	c.(2302-2304)tgG>tgC	p.W768C	PFAS_ENST00000545834.1_Missense_Mutation_p.W344C	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	768					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	p.W768C(1)		central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCGGGAACTGGATGTGGGCAG	0.627000													66	185					0	0	1	0	0
UNC5CL	222643	broad.mit.edu	37	6	41002736	41002736	+	Silent	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:41002736A>G	ENST00000244565.3	-	2	166	c.78T>C	c.(76-78)ctT>ctC	p.L26L	UNC5CL_ENST00000373164.1_Silent_p.L26L	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	26					signal transduction	cytoplasm|integral to membrane		p.L26L(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATTGGGCCAGAAGGAGGACAC	0.602000													311	263					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7811302	7811302	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:7811302G>A	ENST00000380358.4	+	34	5295	c.5294G>A	c.(5293-5295)cGg>cAg	p.R1765Q	CHD3_ENST00000330494.7_Missense_Mutation_p.R1706Q|CHD3_ENST00000358181.4_Missense_Mutation_p.R1672Q	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1706	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GAGAAGCCCCGGTTCATGTTC	0.562000													26	1477					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62758491	62758491	+	Missense_Mutation	SNP	G	G	A	rs35106420	by1000genomes	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:62758491G>A	ENST00000512091.1	+	9	2141	c.1394G>A	c.(1393-1395)cGg>cAg	p.R465Q	LPHN3_ENST00000509896.1_Missense_Mutation_p.R533Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.R465Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.R533Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.R533Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.R533Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.R465Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.R533Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.R465Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.R465Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.R533Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.R533Q|LPHN3_ENST00000514591.1_Missense_Mutation_p.R465Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.R465Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.R465Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	465			R -> Q (in dbSNP:rs35106420).		neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.R465L(3)		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						AGAAGAAACCGGAGTACTAGT	0.542000													15	463					0	0	1	0	0
ECH1	1891	broad.mit.edu	37	19	39306306	39306306	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:39306306G>A	ENST00000221418.4	-	10	1166	c.934C>T	c.(934-936)Cag>Tag	p.Q312*		NM_001398.2	NP_001389.2			enoyl CoA hydratase 1, peroxisomal											cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GTCGTGGCCTGGACCGACTTC	0.617000													11	385					0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71418744	71418744	+	Splice_Site	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:71418744T>A	ENST00000414819.1	-	5	1427		c.e5-2		PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000356595.4_Splice_Site|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000370932.2_Intron	NM_001126044.1	NP_001119516.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)						cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	gcagattaactaaccacagat	0.313000													7	586					0	0	1	0	0
RHOB	388	broad.mit.edu	37	2	20647327	20647327	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:20647327A>G	ENST00000272233.4	+	1	493	c.101A>G	c.(100-102)tAc>tGc	p.Y34C		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	34					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding	p.Y34C(1)		breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		CCCGAGGTGTACGTGCCCACC	0.637000													14	51					0	0	1	0	0
CIDECP	152302	broad.mit.edu	37	3	10059619	10059619	+	RNA	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:10059619C>T	ENST00000432401.1	-	0	505																											TCAGACAGGTCGGGATGAGGG	0.607000													7	1118					0	0	1	0	0
GSTM1	2944	broad.mit.edu	37	1	110230835	110230835	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:110230835G>A	ENST00000309851.5	+	2	134	c.80G>A	c.(79-81)aGc>aAc	p.S27N	GSTM1_ENST00000369819.2_Missense_Mutation_p.S27N|GSTM1_ENST00000369823.2_Missense_Mutation_p.S27N|GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000460717.3_Intron|GSTM1_ENST00000349334.3_Missense_Mutation_p.S27N|GSTM1_ENST00000490021.2_Intron|GSTM1_ENST00000483399.2_Missense_Mutation_p.S27N	NM_000561.3	NP_000552.2	P09488	GSTM1_HUMAN	glutathione S-transferase mu 1	27	GST N-terminal.				xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(1)|lung(1)|ovary(1)	3		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	ACAGACTCAAGCTATGAGGAA	0.597000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				7	554					0	0	1	0	0
MKNK1	8569	broad.mit.edu	37	1	47024441	47024441	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:47024441C>T	ENST00000371946.4	-	14	1367	c.1204G>A	c.(1204-1206)Gca>Aca	p.A402T	MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371945.4_Missense_Mutation_p.A361T|MKNK1_ENST00000371944.4_Missense_Mutation_p.A266T|MKNK1_ENST00000341183.5_Missense_Mutation_p.R346H|MKNK1_ENST00000428112.2_Missense_Mutation_p.R346H	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	402					intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.A402P(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					GCCTCAGCTGCGAAGAGCGTC	0.592000													6	478					0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41628000	41628000	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:41628000C>T	ENST00000331105.2	+	6	856	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	262					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CAGATCTCCCCGGGACTTCAT	0.582000													4	108					0	0	1	0	0
LEFTY2	7044	broad.mit.edu	37	1	226125197	226125197	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:226125197G>A	ENST00000366820.5	-	4	1393	c.1045C>T	c.(1045-1047)Cag>Tag	p.Q349*	LEFTY2_ENST00000420304.2_Nonsense_Mutation_p.Q315*|RP4-559A3.6_ENST00000513672.1_RNA	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	349					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					CTGCACTTCTGCACCCTCATG	0.617000													7	820					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202698970	202698970	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:202698970C>T	ENST00000367265.3	-	26	5526	c.4362G>A	c.(4360-4362)gaG>gaA	p.E1454E	KDM5B_ENST00000367264.2_Silent_p.E1490E	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1454					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CATAGCTACGCTCTCTCTCTA	0.468000													6	830					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24854824	24854824	+	Splice_Site	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:24854824T>A	ENST00000313367.2	-	19	2479		c.e19-2		OSBPL3_ENST00000409069.1_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site|OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000396429.1_Splice_Site|OSBPL3_ENST00000352860.1_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													5	231					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33292997	33292997	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:33292997T>G	ENST00000280979.4	+	13	6148	c.5978T>G	c.(5977-5979)tTt>tGt	p.F1993C	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1993					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GAAACCAGGTTTAACAACAGA	0.428000													8	978					0	0	1	0	0
COG8	84342	broad.mit.edu	37	16	69368472	69368472	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:69368472C>T	ENST00000306875.4	-	3	1479	c.1365G>A	c.(1363-1365)gtG>gtA	p.V455V	COG8_ENST00000562081.1_Silent_p.V455V	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	455					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GCGCCAGGGCCACAGGGCAGC	0.572000													40	98					0	0	1	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140855730	140855730	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:140855730T>C	ENST00000308177.3	+	1	151	c.47T>C	c.(46-48)gTa>gCa	p.V16A	PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_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)			ACCGGGAGGGTAGTGGGAGTT	0.562000													9	537					0	0	1	0	0
RPL3L	6123	broad.mit.edu	37	16	1995916	1995916	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:1995916A>G	ENST00000268661.7	-	8	1061	c.967T>C	c.(967-969)Tac>Cac	p.Y323H		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	323					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						ACTTCCCCGTAGTGGGGGAAG	0.597000													3	48					0	0	1	0	0
PDIK1L	149420	broad.mit.edu	37	1	26448784	26448784	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:26448784T>C	ENST00000374271.4	+	4	1029	c.742T>C	c.(742-744)Tgg>Cgg	p.W248R	PDIK1L_ENST00000374269.1_Missense_Mutation_p.W248R	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	248	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity			large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		GATTATCATCTGGGCAATGCT	0.443000													14	1519					0	0	1	0	0
RRAGA	10670	broad.mit.edu	37	9	19050305	19050305	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:19050305C>T	ENST00000380527.1	+	1	934	c.648C>T	c.(646-648)caC>caT	p.H216H		NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN	Ras-related GTP binding A	216					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						TTATTTCCCACTACCAGTGCA	0.483000													4	177					0	0	1	0	0
FRMD4B	23150	broad.mit.edu	37	3	69244181	69244181	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:69244181T>C	ENST00000542259.1	-	17	1769	c.1318A>G	c.(1318-1320)Agt>Ggt	p.S440G	FRMD4B_ENST00000398540.3_Missense_Mutation_p.S494G|FRMD4B_ENST00000478263.1_Missense_Mutation_p.S146G			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	494						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		ACTTCTTCACTCGGCAGCAAG	0.448000													3	71					0	0	1	0	0
KIAA1279	26128	broad.mit.edu	37	10	70776071	70776071	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:70776071G>A	ENST00000361983.4	+	7	1867	c.1765G>A	c.(1765-1767)Gcc>Acc	p.A589T		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	589					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						GCATCCTGAGGCCGCCCAGGA	0.393000													4	202					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94486389	94486389	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:94486389A>G	ENST00000375708.3	-	9	2585	c.2387T>C	c.(2386-2388)tTc>tCc	p.F796S	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	796	Pro-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGCTGTGGGAAGGGCGGGGC	0.682000													3	152					0	0	1	0	0
SRC	6714	broad.mit.edu	37	20	36024642	36024642	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:36024642G>A	ENST00000373578.2	+	8	980	c.631G>A	c.(631-633)Gac>Aac	p.D211N	SRC_ENST00000373558.2_Missense_Mutation_p.D217N|SRC_ENST00000445403.1_Missense_Mutation_p.D211N|SRC_ENST00000373567.2_Missense_Mutation_p.D211N|SRC_ENST00000358208.4_Missense_Mutation_p.D211N|SRC_ENST00000360723.4_Missense_Mutation_p.D217N	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	211	SH2.				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity	p.D211N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	CCGCAAGCTGGACAGCGGCGG	0.642000													199	22					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966962	41966962	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:41966962A>T	ENST00000298919.7	+	10	1989	c.1601A>T	c.(1600-1602)aAa>aTa	p.K534I	PDZRN4_ENST00000402685.2_Missense_Mutation_p.K794I|PDZRN4_ENST00000539469.2_Missense_Mutation_p.K536I			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	794	Poly-Glu.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				ACCTCCACCAAAGCCAAAACC	0.502000													6	594					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139915039	139915039	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:139915039C>A	ENST00000297183.6	+	30	7067	c.6943C>A	c.(6943-6945)Ctg>Atg	p.L2315M	ANKHD1_ENST00000360839.2_Missense_Mutation_p.L2315M|ANKHD1_ENST00000544120.1_Intron|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.L2315M	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGGTTTTCCTGCAAGGGCC	0.507000													6	172					0.0293803	0.0304743	1	1	0
MRPL14	64928	broad.mit.edu	37	6	44081909	44081909	+	Missense_Mutation	SNP	G	G	A	rs142865447		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:44081909G>A	ENST00000372014.3	-	3	240	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	37					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			ACTCGTACCCGCGTCATCTTC	0.547000													11	2041					0	0	1	0	0
SCFD2	152579	broad.mit.edu	37	4	54140063	54140063	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:54140063G>A	ENST00000401642.3	-	4	1374	c.1241C>T	c.(1240-1242)gCt>gTt	p.A414V	SCFD2_ENST00000388940.4_Missense_Mutation_p.A414V	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	414					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CAACGTTTGAGCTGTGGCCAG	0.493000													10	230					0	0	1	0	0
TBC1D26	353149	broad.mit.edu	37	17	15644464	15644464	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:15644464G>A	ENST00000437605.2	+	10	825	c.575G>A	c.(574-576)cGc>cAc	p.R192H	ZNF286A_ENST00000413242.2_3'UTR|AC005324.6_ENST00000433873.1_RNA|AC005324.6_ENST00000434017.1_RNA|AC005324.6_ENST00000580194.1_RNA	NM_178571.4	NP_848666.2	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	192	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		GACCTGAGCCGCATCACTGCC	0.592000													4	200					0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142499740	142499740	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:142499740C>T	ENST00000273482.6	+	5	1118	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W	TRPC1_ENST00000476941.1_Missense_Mutation_p.R277W	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	277					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TGCACAAGCCCGGAATTCTCG	0.383000													3	77					0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117142688	117142688	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:117142688G>A	ENST00000369486.3	-	7	2669	c.1904C>T	c.(1903-1905)gCc>gTc	p.A635V	IGSF3_ENST00000369483.1_Missense_Mutation_p.A655V|IGSF3_ENST00000318837.6_Missense_Mutation_p.A655V	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	635	Ig-like C2-type 5.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CGTGTCACTGGCTCGGCTGAT	0.612000													6	249					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076861	9076861	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:9076861C>T	ENST00000397910.4	-	3	10788	c.10585G>A	c.(10585-10587)Gac>Aac	p.D3529N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3530	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						GTGGTTACGTCCAGGATGCTC	0.517000													9	1740					0	0	1	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15122299	15122299	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:15122299A>G	ENST00000253699.3	-	10	1464	c.851T>C	c.(850-852)cTt>cCt	p.L284P	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.L284P|ZFYVE20_ENST00000449964.2_5'UTR|ZFYVE20_ENST00000435849.3_Silent_p.T203T	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	284	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						CTCCATGCAAAGTCGTAATTT	0.378000													4	334					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54895638	54895638	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:54895638G>A	ENST00000356805.4	+	36	7308	c.7027G>A	c.(7027-7029)Ggc>Agc	p.G2343S		NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2343					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GTCCAGTCCCGGCAAGCGGGA	0.557000													9	338					0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43317077	43317077	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:43317077G>A	ENST00000290650.4	-	25	2767	c.2689C>T	c.(2689-2691)Cgg>Tgg	p.R897W	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	897					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TCTATTGCCCGCTCAAATACG	0.448000													4	226					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21873953	21873953	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:21873953A>G	ENST00000399982.2	-	14	3042	c.2978T>C	c.(2977-2979)tTc>tCc	p.F993S	CHD8_ENST00000430710.3_Missense_Mutation_p.F714S|CHD8_ENST00000557364.1_Missense_Mutation_p.F993S|CHD8_ENST00000555962.1_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	993	Helicase ATP-binding.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	p.F993S(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CGGTTCCAAGAAATGAAGCAA	0.398000													652	123					0	0	1	0	0
ZNF546	339327	broad.mit.edu	37	19	40520038	40520038	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:40520038C>A	ENST00000347077.4	+	7	1077	c.861C>A	c.(859-861)caC>caA	p.H287Q	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.H261Q	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TTCATTATCACCTTACTGAAC	0.433000													7	303					0.00400662	0.00420803	1	1	0
KIAA0247	9766	broad.mit.edu	37	14	70170292	70170292	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:70170292G>A	ENST00000342745.4	+	3	615	c.302G>A	c.(301-303)aGc>aAc	p.S101N		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	101	Sushi.					integral to membrane		p.S101N(1)		endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		ATGGAGATTAGCTGCCGTCTC	0.493000													188	27					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150527938	150527938	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:150527938G>A	ENST00000271643.4	+	8	1504	c.1268G>A	c.(1267-1269)cGg>cAg	p.R423Q	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R446Q|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R423Q|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.R423Q	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	423					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	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;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTGAACTGCCGGCCCCGTGGC	0.617000													23	2439					0	0	1	0	0
WDR86	349136	broad.mit.edu	37	7	151097232	151097232	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:151097232C>T	ENST00000334493.6	-	2	689	c.259G>A	c.(259-261)Ggg>Agg	p.G87R	WDR86_ENST00000477459.1_5'UTR|WDR86_ENST00000469830.2_Missense_Mutation_p.G87R	NM_198285.2	NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	87										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGACACTGCCCGGTCAGCACG	0.597000													6	860					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51863545	51863545	+	Silent	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:51863545G>T	ENST00000453097.2	+	12	1714	c.1497G>T	c.(1495-1497)ctG>ctT	p.L499L	SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000514353.3_Silent_p.L446L|SLC4A8_ENST00000535225.2_Silent_p.L446L|SLC4A8_ENST00000358657.3_Silent_p.L526L|SLC4A8_ENST00000394856.1_Silent_p.L446L	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	499					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TTGGGGGACTGCTTGGAGAAG	0.498000													76	1082					3.28156e-27	3.65659e-27	1	1	0
FAM13C	220965	broad.mit.edu	37	10	61043124	61043124	+	Splice_Site	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:61043124T>C	ENST00000373867.3	-	7	807	c.343_splice	c.e7+1	p.A114_splice	FAM13C_ENST00000435852.2_Splice_Site_p.A197_splice|FAM13C_ENST00000373868.2_Splice_Site_p.A197_splice|FAM13C_ENST00000277705.6_Splice_Site_p.A218_splice|FAM13C_ENST00000442566.3_Splice_Site_p.A218_splice|FAM13C_ENST00000468840.2_Splice_Site_p.A114_splice|FAM13C_ENST00000419214.2_Splice_Site_p.A197_splice|FAM13C_ENST00000422313.2_Splice_Site_p.A197_splice	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	197										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GTATCTTACCTGCAGAATCTG	0.532000													7	307					0	0	1	0	0
PSPC1	55269	broad.mit.edu	37	13	20346514	20346514	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:20346514G>A	ENST00000338910.4	-	2	701	c.542C>T	c.(541-543)cCa>cTa	p.P181L		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	181	RRM 2.|Sufficient for paraspeckles localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TTTCTCTACTGGACCAAACTG	0.478000													5	295					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37564497	37564497	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:37564497T>C	ENST00000300651.6	-	17	4200	c.3977A>G	c.(3976-3978)gAc>gGc	p.D1326G	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1326	Interaction with TP53.|Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CATCTGGCCGTCCAGTGGGTC	0.512000										HNSCC(31;0.082)			4	407					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123215772	123215772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:123215772G>A	ENST00000349780.4	-	21	2934	c.2755C>T	c.(2755-2757)Cag>Tag	p.Q919*	CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.Q919*|CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.Q887*|CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.Q919*	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	919					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AGGGCAGCCTGCCACCCAGGC	0.463000													55	662					0	0	1	0	0
PNMA1	9240	broad.mit.edu	37	14	74180132	74180132	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:74180132C>A	ENST00000316836.3	-	1	996	c.211G>T	c.(211-213)Gct>Tct	p.A71S		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	71					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		taatctacagcgccagtgagc	0.527000													12	182					0.00185496	0.00195171	1	1	0
DYRK4	8798	broad.mit.edu	37	12	4702286	4702286	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:4702286A>T	ENST00000540757.2	+	4	397	c.237A>T	c.(235-237)aaA>aaT	p.K79N	DYRK4_ENST00000543431.1_Missense_Mutation_p.K79N|DYRK4_ENST00000010132.5_Missense_Mutation_p.K79N	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	79						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K481N(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CTCCTGAGAAATTTAGCAAGA	0.537000													100	70					0	0	1	0	0
ELAC1	55520	broad.mit.edu	37	18	48513277	48513277	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr18:48513277G>A	ENST00000269466.3	+	4	1021	c.914G>A	c.(913-915)cGt>cAt	p.R305H	RP11-729L2.2_ENST00000590722.2_Intron|ELAC1_ENST00000588577.1_3'UTR|RP11-729L2.2_ENST00000588256.1_Intron|SMAD4_ENST00000452201.2_Intron	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	305					tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		AAGTTGTGCCGTGCAAAGAGG	0.493000													4	121					0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58606095	58606095	+	Translation_Start_Site	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:58606095C>T	ENST00000267485.7	-	0	176				C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37							integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						AGAAATGGCACGTACACTGGC	0.398000													4	304					0	0	1	0	0
UVSSA	57654	broad.mit.edu	37	4	1348634	1348634	+	Splice_Site	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:1348634A>T	ENST00000389851.4	+	6	1493	c.1047_splice	c.e6+1	p.Q349_splice	UVSSA_ENST00000511216.1_Splice_Site_p.Q349_splice|UVSSA_ENST00000507531.1_Splice_Site_p.Q349_splice	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	349																	TCGTGGATCCAGGTGAGCCTC	0.632000													2	6					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975854	20975854	+	Missense_Mutation	SNP	C	C	T	rs139454085	by1000genomes	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:20975854C>T	ENST00000261383.3	-	53	9351	c.9352G>A	c.(9352-9354)Gcg>Acg	p.A3118T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3118	AAA 5 (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)		AACTGCAGCGCGTTTTCCAGC	0.458000													29	1788					0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14282235	14282235	+	RNA	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:14282235G>A	ENST00000310358.7	+	0	2468							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CAAGTCTCTGGCAGAACTTGG	0.577000													5	254					0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39964107	39964107	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:39964107G>A	ENST00000599117.1	+	26	2805	c.2438G>A	c.(2437-2439)cGc>cAc	p.R813H	SUPT5H_ENST00000359191.6_Missense_Mutation_p.R809H|SUPT5H_ENST00000432763.2_Missense_Mutation_p.R813H|SUPT5H_ENST00000402194.2_Missense_Mutation_p.R809H|SUPT5H_ENST00000598725.1_Missense_Mutation_p.R813H			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	813	9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GATGGCAGCCGCACTCCTGCC	0.627000													6	377					0	0	1	0	0
TMEM214	54867	broad.mit.edu	37	2	27258869	27258869	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:27258869C>T	ENST00000238788.9	+	5	731	c.669C>T	c.(667-669)atC>atT	p.I223I	TMEM214_ENST00000404032.3_Silent_p.I178I	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	223						integral to membrane	protein binding	p.I223I(1)		kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCATCTGTATCCAGGCCATCC	0.512000													158	308					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57975218	57975218	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:57975218C>T	ENST00000455537.2	+	25	3050	c.2776C>T	c.(2776-2778)Cac>Tac	p.H926Y	KIF5A_ENST00000286452.5_Missense_Mutation_p.H837Y	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	926	Globular.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CCGGCCTGGCCACTACCCAGC	0.547000													4	184					0	0	1	0	0
PTPMT1	114971	broad.mit.edu	37	11	47593092	47593092	+	Missense_Mutation	SNP	C	C	T	rs139377764	by1000genomes	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:47593092C>T	ENST00000426530.2	+	2	627	c.434C>T	c.(433-435)gCc>gTc	p.A145V	PTPMT1_ENST00000326656.8_Missense_Mutation_p.P109S|NDUFS3_ENST00000533507.1_3'UTR|PTPMT1_ENST00000534775.1_3'UTR|PTPMT1_ENST00000326674.9_Missense_Mutation_p.P173S|PTPMT1_ENST00000527079.2_3'UTR	NM_001143984.1	NP_001137456.1	Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	0	Tyrosine-protein phosphatase.				inositol phosphate dephosphorylation	mitochondrial inner membrane	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						CCACATCAGGCCTGGCCAGCT	0.488000													4	291					0	0	1	0	0
LLGL1	3996	broad.mit.edu	37	17	18144970	18144970	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:18144970G>A	ENST00000316843.4	+	18	2804	c.2708G>A	c.(2707-2709)tGc>tAc	p.C903Y		NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	903					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CACTATTCCTGCATCCGGAAG	0.657000													8	556					0	0	1	0	0
C10orf2	56652	broad.mit.edu	37	10	102753148	102753148	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:102753148G>A	ENST00000311916.2	+	5	2121	c.1936G>A	c.(1936-1938)Gga>Aga	p.G646R	C10orf2_ENST00000473656.1_3'UTR|C10orf2_ENST00000370228.1_3'UTR	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	646					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGATGACACTGGACCAGTGGC	0.542000													124	418					0	0	1	0	0
LOXL1	4016	broad.mit.edu	37	15	74240155	74240155	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:74240155G>A	ENST00000261921.7	+	5	1840	c.1514G>A	c.(1513-1515)aGc>aAc	p.S505N		NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	505	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						CAGGGCCTGAGCCCAGGCTGC	0.602000													5	610					0	0	1	0	0
CERK	64781	broad.mit.edu	37	22	47087611	47087611	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:47087611G>C	ENST00000216264.8	-	11	1302	c.1190C>G	c.(1189-1191)tCc>tGc	p.S397C	CERK_ENST00000471929.1_5'UTR|CERK_ENST00000541677.1_Missense_Mutation_p.S199C	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	397					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			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)		ACAAGCACAGGACATGTTTGT	0.567000													3	142					0	0	1	0	0
IPMK	253430	broad.mit.edu	37	10	59956132	59956132	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:59956132G>A	ENST00000373935.3	-	6	1278	c.956C>T	c.(955-957)gCg>gTg	p.A319V		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	319						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						CCTGTGACGCGCATACATCTT	0.378000													4	196					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48745161	48745161	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:48745161G>A	ENST00000427699.1	+	12	1758	c.1678G>A	c.(1678-1680)Ggg>Agg	p.G560R	ABCC3_ENST00000285238.8_Intron	NM_001144070.1	NP_001137542.1	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	0	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCAGGGCTCTGGGTGCCCAGG	0.642000													4	220					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56463964	56463964	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:56463964A>G	ENST00000291971.3	+	2	499	c.428A>G	c.(427-429)gAg>gGg	p.E143G	NLRP8_ENST00000590542.1_Missense_Mutation_p.E143G	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	143						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTGAATCTGGAGGAAGGAGAA	0.483000													5	575					0	0	1	0	0
OPN3	23596	broad.mit.edu	37	1	241767868	241767868	+	Silent	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:241767868A>G	ENST00000366554.2	-	2	493	c.387T>C	c.(385-387)atT>atC	p.I129I	OPN3_ENST00000469376.1_5'UTR|OPN3_ENST00000331838.5_Intron	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	129					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTAGGGTGGCAATGGAAACAA	0.502000													3	167					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89711956	89711956	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:89711956G>A	ENST00000371953.3	+	6	1931	c.574G>A	c.(574-576)Gca>Aca	p.A192T	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	192	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)|p.V191fs*7(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TAGACCAGTGGCACTGTTGTT	0.393000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			4	339					0	0	1	0	0
PAX5	5079	broad.mit.edu	37	9	37015093	37015093	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:37015093C>T	ENST00000358127.4	-	3	385	c.311G>A	c.(310-312)cGc>cAc	p.R104H	PAX5_ENST00000446742.1_Intron|PAX5_ENST00000377852.2_Missense_Mutation_p.R104H|PAX5_ENST00000414447.1_Missense_Mutation_p.R104H|PAX5_ENST00000377847.2_Missense_Mutation_p.R104H|PAX5_ENST00000520281.1_Missense_Mutation_p.R104H|PAX5_ENST00000520154.1_Missense_Mutation_p.R104H|PAX5_ENST00000523145.1_5'UTR|PAX5_ENST00000377853.2_Missense_Mutation_p.R104H|PAX5_ENST00000523241.1_Missense_Mutation_p.R104H|PAX5_ENST00000522003.1_5'UTR	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	104	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(42)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GGGATTTTGGCGTTTATATTC	0.517000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								6	678					0	0	1	0	0
FAM83E	54854	broad.mit.edu	37	19	49114020	49114020	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:49114020C>A	ENST00000263266.3	-	2	739	c.550G>T	c.(550-552)Gtc>Ttc	p.V184F		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	184										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)		AGCAGGTAGACAGGTACCCAG	0.662000													4	12					0.000602214	0.000637062	1	1	0
TTLL5	23093	broad.mit.edu	37	14	76186076	76186076	+	Splice_Site	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:76186076A>T	ENST00000298832.9	+	11	1047		c.e11-1		TTLL5_ENST00000555422.1_Intron|TTLL5_ENST00000557636.1_Splice_Site	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5						protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		AATTTGTTTTAGTTGTGACGA	0.353000													6	284					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8419828	8419828	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:8419828G>A	ENST00000337907.3	-	20	4248	c.3614C>T	c.(3613-3615)gCg>gTg	p.A1205V	RERE_ENST00000476556.1_Missense_Mutation_p.A651V|RERE_ENST00000400908.2_Missense_Mutation_p.A1205V|RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Missense_Mutation_p.A937V	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1205					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A1205V(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ACTCACAGCCGCCCGCTCTGC	0.706000													17	3					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105845092	105845092	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:105845092T>C	ENST00000393127.2	+	16	2911	c.2465T>C	c.(2464-2466)gTt>gCt	p.V822A	GRIA4_ENST00000282499.5_Missense_Mutation_p.V822A|GRIA4_ENST00000525187.1_Missense_Mutation_p.V822A|GRIA4_ENST00000530497.1_Missense_Mutation_p.V822A|GRIA4_ENST00000533094.1_3'UTR	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	822					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TACATTCTGGTTGGCGGCTTG	0.498000													3	169					0	0	1	0	0
CDC25B	994	broad.mit.edu	37	20	3778394	3778394	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:3778394C>T	ENST00000245960.5	+	2	1023	c.326C>T	c.(325-327)gCa>gTa	p.A109V	CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000340833.4_Missense_Mutation_p.A109V|CDC25B_ENST00000439880.2_Missense_Mutation_p.A95V|CDC25B_ENST00000344256.6_Missense_Mutation_p.A45V|CDC25B_ENST00000379598.5_Missense_Mutation_p.A45V	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	109					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						TCTTCTGATGCAGGTGAGGCC	0.612000													4	172					0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110962538	110962538	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:110962538G>A	ENST00000316534.4	-	1	81	c.8C>T	c.(7-9)gCg>gTg	p.A3V	NPHP1_ENST00000355301.4_Missense_Mutation_p.A3V|NPHP1_ENST00000418527.1_Missense_Mutation_p.A3V|NPHP1_ENST00000393272.3_Missense_Mutation_p.A3V|NPHP1_ENST00000417665.1_Missense_Mutation_p.A3V|NPHP1_ENST00000445609.2_Missense_Mutation_p.A3V			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	3					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CTGTCGTCTCGCCAGCATCTC	0.667000													4	130					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14288434	14288434	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:14288434G>A	ENST00000340736.6	-	3	490	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	LPHN1_ENST00000361434.3_Missense_Mutation_p.R65C	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	65	SUEL-type lectin.				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						TCGTCCGTGCGCCCGTAGTTG	0.607000													8	1332					0	0	1	0	0
SWSAP1	126074	broad.mit.edu	37	19	11486196	11486196	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:11486196G>A	ENST00000312423.2	+	2	253	c.194G>A	c.(193-195)cGc>cAc	p.R65H		NM_175871.3	NP_787067.2	Q6NVH7	CS039_HUMAN	SWIM-type zinc finger 7 associated protein 1	65																	TAGAAGATCCGCTTCCAGTAC	0.577000													5	278					0	0	1	0	0
CYP2J2	1573	broad.mit.edu	37	1	60377309	60377309	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:60377309T>C	ENST00000371204.3	-	4	698	c.655A>G	c.(655-657)Aca>Gca	p.T219A	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	219					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					TCCAAGTATGTGACTTCATCT	0.458000													5	369					0	0	1	0	0
TCTN2	79867	broad.mit.edu	37	12	124171487	124171487	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:124171487G>A	ENST00000303372.5	+	6	797	c.669G>A	c.(667-669)acG>acA	p.T223T	TCTN2_ENST00000426174.2_Silent_p.T222T	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	223					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CTGCTGGGACGACGACACGTG	0.527000													6	884					0	0	1	0	0
ASRGL1	80150	broad.mit.edu	37	11	62123795	62123795	+	Splice_Site	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:62123795A>T	ENST00000415229.2	+	3	405		c.e3-1		ASRGL1_ENST00000535727.1_Intron|ASRGL1_ENST00000301776.5_Splice_Site	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1						asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	TTTTGGTTTTAGGTTGTGGGT	0.542000													7	380					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48685238	48685238	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:48685238G>A	ENST00000352832.5	+	24	4866	c.4494G>A	c.(4492-4494)ctG>ctA	p.L1498L	CACNA1G_ENST00000502264.1_Silent_p.L1498L|CACNA1G_ENST00000514181.1_Silent_p.L1521L|CACNA1G_ENST00000507609.1_Silent_p.L1521L|CACNA1G_ENST00000514079.1_Silent_p.L1521L|CACNA1G_ENST00000507336.1_Silent_p.L1521L|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000512389.1_Silent_p.L1521L|CACNA1G_ENST00000354983.4_Silent_p.L1498L|CACNA1G_ENST00000505165.1_Silent_p.L1521L|CACNA1G_ENST00000360761.4_Silent_p.L1498L|CACNA1G_ENST00000515765.1_Silent_p.L1521L|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000429973.2_Silent_p.L1521L|CACNA1G_ENST00000510115.1_Silent_p.L1498L|CACNA1G_ENST00000515411.1_Silent_p.L1521L|CACNA1G_ENST00000507896.1_Silent_p.L1521L|CACNA1G_ENST00000359106.5_Silent_p.L1521L|CACNA1G_ENST00000507510.2_Silent_p.L1521L|CACNA1G_ENST00000358244.5_Silent_p.L1498L|CACNA1G_ENST00000442258.2_Silent_p.L1498L|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000515165.1_Silent_p.L1521L|CACNA1G_ENST00000503485.1_Intron	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1521					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCTCGTTCCTGCTCATTGTGG	0.597000													14	2139					0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12187475	12187475	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:12187475C>G	ENST00000439326.3	+	4	1715	c.1540C>G	c.(1540-1542)Cat>Gat	p.H514D	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H514D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AAAGCCTTCACATCTGCCTCA	0.408000													6	117					0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70450991	70450991	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr18:70450991G>A	ENST00000327305.6	-	7	1447	c.790C>T	c.(790-792)Ctt>Ttt	p.L264F	NETO1_ENST00000299430.2_Missense_Mutation_p.L263F|NETO1_ENST00000583169.1_Missense_Mutation_p.L264F	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	264	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATCACCCCAAGACCCGTGCGT	0.483000													5	301					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103322324	103322324	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:103322324G>A	ENST00000233969.2	+	11	2139	c.1997G>A	c.(1996-1998)cGa>cAa	p.R666Q		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	666						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TCAACCTCCCGATATTTATCC	0.303000													8	38					0	0	1	0	0
HTR3E	285242	broad.mit.edu	37	3	183822677	183822677	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:183822677G>A	ENST00000415389.2	+	5	958	c.492G>A	c.(490-492)ctG>ctA	p.L164L	HTR3E_ENST00000425359.2_Silent_p.L149L|HTR3E_ENST00000335304.2_Silent_p.L179L|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000440596.2_Silent_p.L190L|HTR3E_ENST00000436361.2_Silent_p.L164L	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	164						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TCTGTAACCTGGACATCTTCT	0.483000													7	1214					0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90349564	90349564	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:90349564G>T	ENST00000300060.6	-	2	564	c.251C>A	c.(250-252)tCc>tAc	p.S84Y		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	84	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	p.S84Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CACCCGGTAGGAATCGGGTTT	0.612000													116	249					1.39264e-60	1.55773e-60	1	1	0
ZNF655	79027	broad.mit.edu	37	7	99159573	99159573	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:99159573G>A	ENST00000425063.1	+	3	301	c.199G>A	c.(199-201)Gcg>Acg	p.A67T	ZNF655_ENST00000424881.1_Intron|ZNF655_ENST00000252713.4_Intron|ZNF655_ENST00000493277.1_Intron|ZNF655_ENST00000357864.2_Intron|ZNF655_ENST00000394163.2_Intron|ZNF655_ENST00000449244.1_Missense_Mutation_p.A67T|ZNF655_ENST00000440391.1_Intron|ZNF655_ENST00000320583.5_Missense_Mutation_p.A67T|ZNF655_ENST00000454654.1_Missense_Mutation_p.A67T			Q8N720	ZN655_HUMAN	zinc finger protein 655	19					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					CCAGGCAGCTGCGCTCTTGAC	0.587000													5	192					0	0	1	0	0
HIST1H4E	8367	broad.mit.edu	37	6	26205069	26205069	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:26205069T>C	ENST00000360441.4	+	1	212	c.197T>C	c.(196-198)gTg>gCg	p.V66A		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	66					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.V66A(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				CTGGAAAACGTGATTCGTGAT	0.567000													166	117					0	0	1	0	0
CDC14A	8556	broad.mit.edu	37	1	100964760	100964760	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:100964760G>A	ENST00000336454.3	+	15	2052	c.1697G>A	c.(1696-1698)cGa>cAa	p.R566Q	CDC14A_ENST00000361544.6_Missense_Mutation_p.R566Q|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000544534.1_Missense_Mutation_p.R566Q|CDC14A_ENST00000542213.1_Missense_Mutation_p.R508Q	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	566					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R566Q(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		ACCATCCTCCGACCCTCCTAC	0.572000													93	154					0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67263036	67263036	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:67263036C>G	ENST00000356404.3	-	16	2580	c.2355G>C	c.(2353-2355)gaG>gaC	p.E785D	PITPNM1_ENST00000436757.2_Missense_Mutation_p.E784D|PITPNM1_ENST00000534749.1_Missense_Mutation_p.E785D	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	785	DDHD.				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TCTCCAGCTCCTCCAGAAAGA	0.662000													2	0					0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3651745	3651745	+	Silent	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:3651745T>C	ENST00000356518.2	-	19	2389	c.2148A>G	c.(2146-2148)ccA>ccG	p.P716P	ADAM33_ENST00000350009.2_Silent_p.P690P|ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000379861.4_Silent_p.P716P	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	716					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GGCCGGCCCCTGGGAGCAGAG	0.672000													2	3					0	0	1	0	0
CMTM2	146225	broad.mit.edu	37	16	66613971	66613971	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:66613971G>A	ENST00000268595.2	+	2	479	c.328G>A	c.(328-330)Gtg>Atg	p.V110M	RP11-403P17.2_ENST00000568430.1_RNA|CMTM2_ENST00000379486.2_Intron	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	110	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		CTCACTCACCGTGCACCCCAT	0.478000													5	338					0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159897631	159897631	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:159897631G>A	ENST00000368094.1	-	20	3474	c.3277C>T	c.(3277-3279)Cct>Tct	p.P1093S	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.P1077S	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1093						cell junction|integral to membrane|synapse		p.P1077S(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGTCCCCAGGGAATTCTGAG	0.517000													247	133					0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4453623	4453623	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:4453623G>A	ENST00000254718.4	-	9	1355	c.1049C>T	c.(1048-1050)cCa>cTa	p.P350L	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.P350L			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	350	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GTCCATCTCTGGGGCAAACTT	0.607000													7	1006					0	0	1	0	0
DDX3X	1654	broad.mit.edu	37	X	41203538	41203538	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:41203538C>T	ENST00000399959.2	+	10	1766	c.911C>T	c.(910-912)gCc>gTc	p.A304V	DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.A288V	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	304	Helicase ATP-binding.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TATGGTGGTGCCGATATTGGT	0.403000										HNSCC(61;0.18)			4	267					0	0	1	0	0
GCG	2641	broad.mit.edu	37	2	163003939	163003939	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:163003939T>C	ENST00000418842.2	-	3	432	c.178A>G	c.(178-180)Agt>Ggt	p.S60G	GCG_ENST00000375497.3_Missense_Mutation_p.S60G	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	60					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	CTGTAGTCACTGGTGAATGTG	0.498000													7	804					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49689003	49689003	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:49689003G>A	ENST00000296452.4	+	5	2128	c.2014G>A	c.(2014-2016)Gat>Aat	p.D672N		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	672					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TTACTCTCAGGATGCGTCTCG	0.582000													4	257					0	0	1	0	0
SULT1C4	27233	broad.mit.edu	37	2	108994919	108994919	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:108994919A>T	ENST00000272452.2	+	1	452	c.126A>T	c.(124-126)caA>caT	p.Q42H	SULT1C4_ENST00000409309.3_Missense_Mutation_p.Q42H	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	42					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						GGAACTTCCAAGCCAAGCCTG	0.468000													6	558					0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148012536	148012536	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:148012536C>G	ENST00000369219.1	-	12	1439	c.1423G>C	c.(1423-1425)Gaa>Caa	p.E475Q				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	475	NBPF 5.					cytoplasm		p.E480D(1)|p.E475Q(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)					ACATGCTTTTCCTCCAATGCA	0.443000													8	1365					0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990476	39990476	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:39990476C>T	ENST00000332312.3	-	4	1925	c.1733G>A	c.(1732-1734)aGc>aAc	p.S578N		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	578						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				TTGAAGTGAGCTGCCCGTCCC	0.607000													5	335					0	0	1	0	0
RBM39	9584	broad.mit.edu	37	20	34302143	34302143	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:34302143T>C	ENST00000361162.6	-	11	1444	c.1060A>G	c.(1060-1062)Act>Gct	p.T354A	RBM39_ENST00000253363.6_Missense_Mutation_p.T354A|RBM39_ENST00000528062.3_Missense_Mutation_p.T332A|RBM39_ENST00000407261.4_Missense_Mutation_p.T197A	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	354	Activating domain (By similarity).|Interaction with JUN (By similarity).				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					AGACGACCAGTTGTTCCCAAA	0.408000													10	282					0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4720318	4720318	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:4720318C>T	ENST00000263088.6	+	16	1800	c.1669C>T	c.(1669-1671)Cgg>Tgg	p.R557W	PLD2_ENST00000572940.1_Missense_Mutation_p.R557W	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	557	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GGACCTTGCCCGGCACTTCAT	0.637000													7	926					0	0	1	0	0
STON1	11037	broad.mit.edu	37	2	48818790	48818790	+	Splice_Site	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:48818790A>G	ENST00000309835.3	+	2	1940		c.e2-1		STON1_ENST00000406226.1_Splice_Site|STON1-GTF2A1L_ENST00000405008.1_Splice_Site|STON1_ENST00000404752.1_Splice_Site|STON1-GTF2A1L_ENST00000402114.2_Splice_Site|STON1-GTF2A1L_ENST00000394751.3_Splice_Site|STON1-GTF2A1L_ENST00000394754.1_Splice_Site|STON1-GTF2A1L_ENST00000309827.2_Splice_Site					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTTTCCCTCGAGGTCTAGATC	0.368000													4	198					0	0	1	0	0
WDR27	253769	broad.mit.edu	37	6	170070705	170070705	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:170070705G>A	ENST00000333572.6	-	4	935	c.416C>T	c.(415-417)gCc>gTc	p.A139V	WDR27_ENST00000423258.1_Intron|WDR27_ENST00000420344.2_Missense_Mutation_p.A139V|WDR27_ENST00000448612.1_Missense_Mutation_p.A139V			A2RRH5	WDR27_HUMAN	WD repeat domain 27	139										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		AGCACACACGGCAACAACATG	0.488000													4	209					0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	860425	860425	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:860425C>T	ENST00000381922.3	-	6	1120	c.1018G>A	c.(1018-1020)Gtg>Atg	p.V340M	ANGPT4_ENST00000546022.1_Missense_Mutation_p.V340M	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	340	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TGAAAATTCACGGTGCCATTC	0.617000													9	352					0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130060534	130060534	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:130060534G>A	ENST00000278742.5	+	7	1238	c.820G>A	c.(820-822)Gac>Aac	p.D274N		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	274	CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GCGCGGCAGCGACCTGGTGAC	0.697000													3	40					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96043555	96043555	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:96043555C>T	ENST00000260766.3	+	21	5438	c.4804C>T	c.(4804-4806)Ctg>Ttg	p.L1602L	PLCE1-AS1_ENST00000425267.3_RNA|PLCE1_ENST00000371375.1_Silent_p.L1294L|PLCE1_ENST00000371385.3_Silent_p.L1294L|PLCE1_ENST00000371380.2_Silent_p.L1602L|PLCE1-AS1_ENST00000440198.1_RNA|PLCE1-AS1_ENST00000596633.1_RNA	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1602					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.L1294L(1)|p.L1602L(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGACAACATTCTGGAAGACAG	0.373000													112	34					0	0	1	0	0
FMN1	342184	broad.mit.edu	37	15	33261570	33261570	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:33261570G>A	ENST00000334528.9	-	4	1662	c.1663C>T	c.(1663-1665)Cga>Tga	p.R555*	FMN1_ENST00000559047.1_Nonsense_Mutation_p.R778*|FMN1_ENST00000561249.1_Nonsense_Mutation_p.R680*	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	778	Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CAACCCCCTCGCCATCTGTGT	0.483000													8	1228					0	0	1	0	0
PRODH2	58510	broad.mit.edu	37	19	36303703	36303703	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:36303703A>G	ENST00000301175.3	-	2	250	c.233T>C	c.(232-234)cTc>cCc	p.L78P		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	78					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	p.L78P(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACAGGTCCGGAGCATCCTGGG	0.622000													46	90					0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220162727	220162727	+	Silent	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:220162727C>A	ENST00000295718.2	-	13	2007	c.1767G>T	c.(1765-1767)ggG>ggT	p.G589G	PTPRN_ENST00000423636.2_Silent_p.G499G|PTPRN_ENST00000409251.3_Silent_p.G560G	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	589					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.G589G(1)		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)		CCACCAGCAGCCCAGCCACAC	0.677000													17	308					3.45872e-05	3.71939e-05	1	1	0
TEP1	7011	broad.mit.edu	37	14	20873701	20873701	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:20873701A>T	ENST00000262715.5	-	4	819	c.779T>A	c.(778-780)gTa>gAa	p.V260E	TEP1_ENST00000556935.1_Missense_Mutation_p.V260E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	260	TROVE.				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)		GTTCATGTTTACTTCTGAGAC	0.463000													5	262					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													5	293					0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183196831	183196831	+	Splice_Site	SNP	C	C	T	rs142082019		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:183196831C>T	ENST00000264144.4	+	10	1532	c.1468_splice	c.e10+1	p.T489_splice	LAMC2_ENST00000493293.1_Splice_Site_p.T489_splice	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	489	Laminin EGF-like 6.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CCGGGGTCACCGGTAAGGCCA	0.557000													9	176					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920126	4920126	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:4920126T>C	ENST00000433855.1	+	1	1785	c.919T>C	c.(919-921)Tac>Cac	p.Y307H	KCNA6_ENST00000280684.3_Missense_Mutation_p.Y307H	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	307						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TATCTTCCCCTACTTCATCAC	0.592000										HNSCC(72;0.22)			4	181					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576716	33576716	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:33576716G>A	ENST00000504830.1	-	19	3750	c.3415C>T	c.(3415-3417)Cct>Tct	p.P1139S	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P1054S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1139	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P1139S(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGAGTCACAGGCCAAGTGATA	0.483000										HNSCC(64;0.19)			300	165					0	0	1	0	0
OR52W1	120787	broad.mit.edu	37	11	6220953	6220953	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:6220953T>C	ENST00000311352.2	+	1	578	c.500T>C	c.(499-501)cTg>cCg	p.L167P		NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCCCACTGCTGGTGGCAAAG	0.542000													4	176					0	0	1	0	0
SPRYD4	283377	broad.mit.edu	37	12	56863124	56863124	+	Silent	SNP	C	C	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:56863124C>G	ENST00000338146.5	+	2	462	c.387C>G	c.(385-387)cgC>cgG	p.R129R		NM_207344.3	NP_997227.1	Q8WW59	SPRY4_HUMAN	SPRY domain containing 4	129	B30.2/SPRY.					nucleus				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						ATGCCCAGCGCAAGTGGTACA	0.567000													7	1193					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56726598	56726598	+	Splice_Site	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:56726598C>T	ENST00000425394.2	-	2	657	c.282_splice	c.e2+1	p.G94_splice	PAN2_ENST00000257931.5_Splice_Site_p.G94_splice|PAN2_ENST00000440411.3_Splice_Site_p.G94_splice|PAN2_ENST00000548043.1_Splice_Site_p.G94_splice	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	94					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGTTCTTACCCCGTGGCTCCC	0.522000													12	1874					0	0	1	0	0
MPG	4350	broad.mit.edu	37	16	133207	133207	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:133207G>A	ENST00000219431.4	+	4	703	c.472G>A	c.(472-474)Gtg>Atg	p.V158M	MPG_ENST00000397817.1_Missense_Mutation_p.V141M	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	158					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding	p.V158M(1)		endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				GACCCTGTACGTGTACATCAT	0.642000								Base excision repair (BER), DNA glycosylases					313	21					0	0	1	0	0
TENC1	23371	broad.mit.edu	37	12	53445743	53445743	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:53445743C>T	ENST00000314250.6	+	2	470	c.180C>T	c.(178-180)tgC>tgT	p.C60C	RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000549700.1_Silent_p.C60C|RP11-983P16.4_ENST00000546793.1_RNA|TENC1_ENST00000546602.1_Silent_p.C60C|TENC1_ENST00000552570.1_Silent_p.C60C|TENC1_ENST00000379902.3_5'UTR|TENC1_ENST00000451358.1_Silent_p.C60C|TENC1_ENST00000314276.3_Silent_p.C70C	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	60					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GCGTTTCGTGCAGAGGTGAGG	0.527000													5	256					0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220445587	220445587	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:220445587G>A	ENST00000358951.2	-	1	209	c.93C>T	c.(91-93)agC>agT	p.S31S	RAB3GAP2_ENST00000462353.1_5'UTR	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	31					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GCAAGGCGCCGCTGAGGATCT	0.652000													3	29					0	0	1	0	0
IGHV7-81	28378	broad.mit.edu	37	14	107282796	107282796	+	RNA	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:107282796G>A	ENST00000390639.2	-	0	400																											GGTGTATCTCGCACAGTAATA	0.517000													5	391					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729403	196729403	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:196729403T>C	ENST00000312428.6	-	41	7076	c.6976A>G	c.(6976-6978)Att>Gtt	p.I2326V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2326	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.I2326V(1)		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						ATCCTGGAAATTCTGCTGATG	0.463000													39	78					0	0	1	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45568052	45568052	+	RNA	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:45568052T>C	ENST00000256692.5	-	0	633					NR_037144.1													p.I33V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCACATCAATTCCCTCCTCA	0.428000													234	280					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9024947	9024947	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:9024947G>A	ENST00000397910.4	-	16	37118	c.36915C>T	c.(36913-36915)cgC>cgT	p.R12305R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12307	SEA 2.				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						TGGGGTCAAGGCGGTGGGTGC	0.547000													7	497					0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22037279	22037279	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:22037279G>A	ENST00000306385.5	+	7	1568	c.898G>A	c.(898-900)Ggc>Agc	p.G300S	BMP1_ENST00000397814.3_Missense_Mutation_p.G300S|BMP1_ENST00000397816.3_Missense_Mutation_p.G300S|BMP1_ENST00000306349.8_Missense_Mutation_p.G300S|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	300	Metalloprotease.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ACCTCCCATTGGCCAAAGGAC	0.572000													11	834					0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127339607	127339607	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:127339607G>A	ENST00000265056.7	+	14	2576	c.2332G>A	c.(2332-2334)Gcg>Acg	p.A778T	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	778					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						GGAGGCCCACGCGCGCATCCA	0.582000													11	1699					0	0	1	0	0
MORC2	22880	broad.mit.edu	37	22	31342438	31342438	+	Splice_Site	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:31342438T>C	ENST00000215862.4	-	7	1495		c.e7-2		MORC2_ENST00000397641.2_Splice_Site	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2								ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						ATTGAGCCCCTGAAAAGGAAA	0.468000													4	315					0	0	1	0	0
ZNF70	7621	broad.mit.edu	37	22	24086504	24086504	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:24086504G>A	ENST00000341976.3	-	2	1284	c.824C>T	c.(823-825)aCc>aTc	p.T275I		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	275						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						TTTCTTTAGGGTGTGGATCTT	0.507000													6	591					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212798349	212798349	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:212798349C>T	ENST00000294829.3	+	1	561	c.130C>T	c.(130-132)Ccg>Tcg	p.P44S	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	44										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CAAGTATGCACCGATATTTGA	0.502000													6	782					0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46961983	46961983	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:46961983G>C	ENST00000374323.3	-	7	1999	c.1412C>G	c.(1411-1413)aCc>aGc	p.T471S	SYT15_ENST00000503753.1_Intron|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374321.4_Missense_Mutation_p.T418S|SYT15_ENST00000374325.3_Intron			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	418						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GGGCTCCGTGGTGCGGCAGAG	0.647000													6	446					0	0	1	0	0
CSRNP1	64651	broad.mit.edu	37	3	39185630	39185630	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:39185630G>A	ENST00000273153.5	-	4	955	c.778C>T	c.(778-780)Cag>Tag	p.Q260*	CSRNP1_ENST00000514182.1_Nonsense_Mutation_p.Q260*	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	260	Cys-rich.				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CACCACACCTGGCACTTGATG	0.592000													4	249					0	0	1	0	0
RPL36AL	6166	broad.mit.edu	37	14	50085614	50085614	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:50085614A>G	ENST00000298289.6	-	2	368	c.209T>C	c.(208-210)cTg>cCg	p.L70P		NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like	70					translation	ribosome	structural constituent of ribosome					all_epithelial(31;0.0021)|Breast(41;0.0124)					AACACATTCCAGCCTTAGCAC	0.488000													6	609					0	0	1	0	0
ODF3L1	161753	broad.mit.edu	37	15	76019874	76019874	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:76019874G>A	ENST00000332145.2	+	4	1041	c.818G>A	c.(817-819)cGt>cAt	p.R273H		NM_175881.3	NP_787077.1	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	273								p.R273H(1)		kidney(1)|lung(1)	2						ATCGACATTCGTGACTGAGGC	0.527000													10	229					0	0	1	0	0
LLGL1	3996	broad.mit.edu	37	17	18136100	18136100	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:18136100G>T	ENST00000316843.4	+	4	472	c.376G>T	c.(376-378)Ggc>Tgc	p.G126C		NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	126					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	p.G126C(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CAGCCGGCCCGGCTTTGATGG	0.607000													3	101					6.4e-05	6.83212e-05	1	1	0
CTRC	11330	broad.mit.edu	37	1	15769984	15769984	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:15769984C>T	ENST00000375949.4	+	5	453	c.427C>T	c.(427-429)Cca>Tca	p.P143S	CTRC_ENST00000375943.2_3'UTR|CTRC_ENST00000483406.1_3'UTR	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	143	Peptidase S1.				proteolysis		serine-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCTGCCTGCCAGAGAAGGA	0.582000													12	1063					0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209963949	209963949	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:209963949G>A	ENST00000367021.3	-	7	1123	c.951C>T	c.(949-951)tgC>tgT	p.C317C	IRF6_ENST00000542854.1_Silent_p.C222C	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	317					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)		CCTTGCACTGGCACAGCCTGA	0.507000										HNSCC(57;0.16)			5	496					0	0	1	0	0
BLZF1	8548	broad.mit.edu	37	1	169351307	169351307	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:169351307G>C	ENST00000367808.3	+	6	1228	c.805G>C	c.(805-807)Gag>Cag	p.E269Q	BLZF1_ENST00000329281.2_Missense_Mutation_p.E269Q			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	269					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					CAGATTATTGGAGGAGCTCTT	0.368000													4	407					0	0	1	0	0
AKAP8L	26993	broad.mit.edu	37	19	15491165	15491165	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:15491165C>T	ENST00000397410.4	-	14	1773	c.1709G>A	c.(1708-1710)gGg>gAg	p.G570E	AKAP8L_ENST00000595465.1_Missense_Mutation_p.G509E|AC005785.2_ENST00000597164.1_RNA	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	570				EEEKEQEEAEGGALDEGAQGEAAGISEGAEGVPAQPPVPPE PA -> RRRRSRRRLRAVPWTRGRRAKRQGFRRAQRACRRS LPCPQSQP (in Ref. 3; AAF86048).		cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	p.G570E(2)		central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						GCCCTGCGCCCCCTCGTCCAG	0.751000													3	12					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15276785	15276785	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:15276785T>A	ENST00000263388.2	-	30	5555	c.5480A>T	c.(5479-5481)cAg>cTg	p.Q1827L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1827					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CTGAGCCCCCTGGCAGATCAG	0.602000													4	157					0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53238349	53238349	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:53238349C>T	ENST00000359499.4	-	5	596	c.585G>A	c.(583-585)caG>caA	p.Q195Q	KRT78_ENST00000304620.4_Silent_p.Q305Q			Q8N1N4	K2C78_HUMAN	keratin 78	305	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CCACCTTGGTCTGGTACAAGG	0.612000													6	965					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72829780	72829780	+	Silent	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:72829780T>C	ENST00000268489.5	-	9	7473	c.6801A>G	c.(6799-6801)ccA>ccG	p.P2267P	ZFHX3_ENST00000397992.5_Silent_p.P1353P	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2267					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)				CATCATCCTTTGGGTAAGCAT	0.468000													6	1141					0	0	1	0	0
ZNF597	146434	broad.mit.edu	37	16	3486699	3486699	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:3486699A>T	ENST00000301744.4	-	4	1235	c.1000T>A	c.(1000-1002)Tca>Aca	p.S334T	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						tttgagaatgagaAGAAATTG	0.468000													4	193					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30680601	30680601	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:30680601T>A	ENST00000376406.3	-	5	1765	c.1118A>T	c.(1117-1119)cAg>cTg	p.Q373L	MDC1_ENST00000376405.2_Missense_Mutation_p.Q373L|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	373	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						ACTACCAGCCTGGCTCTCCTG	0.537000								Other conserved DNA damage response genes					10	495					0	0	1	0	0
ASTE1	28990	broad.mit.edu	37	3	130735185	130735185	+	Splice_Site	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:130735185T>A	ENST00000264992.3	-	5	1955		c.e5-2		ATP2C1_ENST00000513801.1_3'UTR|ATP2C1_ENST00000533801.2_3'UTR|ATP2C1_ENST00000507488.2_3'UTR|ATP2C1_ENST00000504381.1_3'UTR|ATP2C1_ENST00000422190.2_3'UTR|ATP2C1_ENST00000393221.4_3'UTR|ATP2C1_ENST00000359644.3_3'UTR|ASTE1_ENST00000514044.1_Splice_Site|ATP2C1_ENST00000328560.8_3'UTR	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)						DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						CTTCCTTACCTAAATAAAGAA	0.398000													6	261					0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456414	5456414	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:5456414G>A	ENST00000222033.4	+	1	989	c.912G>A	c.(910-912)tgG>tgA	p.W304*		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	304						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CCTTCACGTGGCACAACGACC	0.612000													5	230					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57076704	57076704	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:57076704A>G	ENST00000532437.1	-	5	3792	c.3481T>C	c.(3481-3483)Tgg>Cgg	p.W1161R	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.W1161R			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1161	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TGGTCAGTCCAGTCCACCGAG	0.602000													4	137					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105199626	105199626	+	Splice_Site	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:105199626G>A	ENST00000369797.3	+	28	4242		c.e28+1			NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11						mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GGGTCCTACGGTAGGTGCCTT	0.532000													4	246					0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150715068	150715068	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:150715068G>A	ENST00000605938.1	-	8	2017	c.1942C>T	c.(1942-1944)Cgt>Tgt	p.R648C	ATG9B_ENST00000444312.1_Missense_Mutation_p.R134C|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000377974.2_Missense_Mutation_p.R648C	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	648					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane		p.R648C(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCAGGGCACGAGGGCGGAAC	0.592000											OREG0018444	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	68					0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127797264	127797264	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:127797264C>A	ENST00000556132.1	-	6	2771	c.1907G>T	c.(1906-1908)aGg>aTg	p.R636M	SOGA3_ENST00000368268.2_Missense_Mutation_p.R636M|SOGA3_ENST00000465909.2_Missense_Mutation_p.R636M|SOGA3_ENST00000525778.1_Missense_Mutation_p.R636M|SOGA3_ENST00000481848.2_Missense_Mutation_p.R636M	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	636						integral to membrane											GCTCTGCTCCCTCATGAGCGG	0.627000													14	431					7.93312e-07	8.64223e-07	1	1	0
IFRD2	7866	broad.mit.edu	37	3	50326098	50326098	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:50326098C>T	ENST00000436390.1	-	13	1565	c.1068G>A	c.(1066-1068)gtG>gtA	p.V356V	IFRD2_ENST00000429673.2_Silent_p.V420V|IFRD2_ENST00000417626.2_Silent_p.V356V|IFRD2_ENST00000336089.4_Silent_p.V522V			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	420							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCATGTAGAGCACCTCAAAGC	0.617000													5	307					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23885344	23885344	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:23885344G>A	ENST00000355349.3	-	34	4984	c.4822C>T	c.(4822-4824)Cgc>Tgc	p.R1608C		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1608					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1608C(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCCTCGTTGCGGCTGCGTGTC	0.622000													7	355					0	0	1	0	0
RASEF	158158	broad.mit.edu	37	9	85611989	85611989	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:85611989G>A	ENST00000376447.3	-	14	2118	c.1858C>T	c.(1858-1860)Ctg>Ttg	p.L620L		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	620					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ACATCATACAGCAGCAAAACA	0.373000													5	435					0	0	1	0	0
PSMD2	5708	broad.mit.edu	37	3	184020156	184020156	+	Splice_Site	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:184020156A>T	ENST00000310118.4	+	6	1262		c.e6-1		PSMD2_ENST00000435761.1_Splice_Site|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Splice_Site	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TTACTTTTGTAGTTGTGTGAA	0.413000													10	397					0	0	1	0	0
FYTTD1	84248	broad.mit.edu	37	3	197476896	197476896	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:197476896G>A	ENST00000241502.3	+	1	276	c.54G>A	c.(52-54)ccG>ccA	p.P18P	FYTTD1_ENST00000415708.2_Intron|FYTTD1_ENST00000428395.2_Intron	NM_032288.6	NP_115664.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	18					mRNA export from nucleus	nuclear speck	mRNA binding|protein binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		CTTCGCCGCCGCCGAAGGCCC	0.652000													3	23					0	0	1	0	0
HOOK3	84376	broad.mit.edu	37	8	42841909	42841909	+	Silent	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:42841909A>G	ENST00000307602.4	+	15	1703	c.1503A>G	c.(1501-1503)ctA>ctG	p.L501L		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	501					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			ATGCAAATCTACGCAAGAATG	0.393000			T	RET	papillary thyroid								4	386					0	0	1	0	0
GIT2	9815	broad.mit.edu	37	12	110429457	110429457	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:110429457G>A	ENST00000360185.4	-	2	325	c.161C>T	c.(160-162)aCa>aTa	p.T54I	GIT2_ENST00000343646.5_Missense_Mutation_p.T54I|GIT2_ENST00000553118.1_Missense_Mutation_p.T54I|GIT2_ENST00000551209.1_Missense_Mutation_p.T54I|GIT2_ENST00000361006.5_Missense_Mutation_p.T54I|GIT2_ENST00000457474.2_Missense_Mutation_p.T54I|GIT2_ENST00000356259.4_Missense_Mutation_p.T54I|GIT2_ENST00000355312.3_Missense_Mutation_p.T54I|GIT2_ENST00000354574.4_Missense_Mutation_p.T54I|GIT2_ENST00000338373.5_Missense_Mutation_p.T54I|GIT2_ENST00000320063.9_Missense_Mutation_p.T54I|GIT2_ENST00000547815.1_Missense_Mutation_p.T54I			Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	54	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						AGGCCACGGTGTGTGTTTCAG	0.438000													57	159					0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88766965	88766965	+	Silent	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:88766965T>C	ENST00000497649.2	+	6	1251	c.873T>C	c.(871-873)aaT>aaC	p.N291N	MEPE_ENST00000361056.3_Silent_p.N315N|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Silent_p.N315N|MEPE_ENST00000395102.4_Silent_p.N346N|MEPE_ENST00000560249.1_Silent_p.N202N|MEPE_ENST00000540395.1_Silent_p.N202N			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	315					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		ATGGTGGAAATACCATTGGAA	0.443000													7	402					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	49962953	49962953	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:49962953G>C	ENST00000281631.5	+	1	182	c.24G>C	c.(22-24)gaG>gaC	p.E8D	PARP8_ENST00000505697.2_Missense_Mutation_p.E8D|PARP8_ENST00000503750.2_Missense_Mutation_p.E8D|PARP8_ENST00000513738.1_Missense_Mutation_p.E8D|PARP8_ENST00000514067.2_Missense_Mutation_p.E8D|PARP8_ENST00000503665.1_Missense_Mutation_p.E8D|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	8						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CAAGGCAAGAGCGAATTCAGA	0.517000													4	373					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228400286	228400286	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:228400286G>A	ENST00000570156.2	+	2	876	c.802G>A	c.(802-804)Gag>Aag	p.E268K	OBSCN_ENST00000284548.11_Missense_Mutation_p.E268K|C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000422127.1_Missense_Mutation_p.E268K|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	268	Ig-like 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.E268K(4)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCCAAGCCCGAGACGGTGTG	0.687000													35	99					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72877317	72877317	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:72877317C>A	ENST00000339594.4	-	12	3522	c.3184G>T	c.(3184-3186)Gtt>Ttt	p.V1062F	BAZ1B_ENST00000404251.1_Missense_Mutation_p.V1062F	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1062					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTTGTTGCAACTTCAATGAGA	0.393000													11	491					3.07112e-06	3.32089e-06	1	1	0
FLNB	2317	broad.mit.edu	37	3	58094978	58094978	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:58094978C>A	ENST00000357272.4	+	14	2293	c.2128C>A	c.(2128-2130)Ccg>Acg	p.P710T	FLNB_ENST00000429972.2_Missense_Mutation_p.P710T|FLNB_ENST00000493452.1_Missense_Mutation_p.P541T|FLNB_ENST00000490882.1_Missense_Mutation_p.P710T|FLNB_ENST00000348383.5_Missense_Mutation_p.P710T|FLNB_ENST00000419752.2_Missense_Mutation_p.P541T|FLNB_ENST00000358537.3_Missense_Mutation_p.P710T|FLNB_ENST00000295956.4_Missense_Mutation_p.P710T			O75369	FLNB_HUMAN	filamin B, beta	710					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CTCATACACCCCGGTGAAGGC	0.557000													4	307					1	1	1	1	0
RPS14	6208	broad.mit.edu	37	5	149827277	149827277	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:149827277T>C	ENST00000401695.3	-	2	66	c.20A>G	c.(19-21)aAg>aGg	p.K7R	RPS14_ENST00000312037.5_Missense_Mutation_p.K7R|RPS14_ENST00000407193.1_Missense_Mutation_p.K7R			P62263	RS14_HUMAN	ribosomal protein S14	7					endocrine pancreas development|erythrocyte differentiation|maturation of SSU-rRNA|negative regulation of transcription from RNA polymerase II promoter|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA 5'-UTR binding|protein binding|structural constituent of ribosome|translation regulator activity			central_nervous_system(1)|lung(1)|skin(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTCTTTTCCTTCCCCTTTCG	0.443000													5	347					0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4711663	4711663	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:4711663G>A	ENST00000263088.6	+	4	466	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	PLD2_ENST00000572940.1_Missense_Mutation_p.R112Q	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	112	PX.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GAGCTGCATCGGGACCTCCTG	0.567000													7	976					0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4796858	4796858	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:4796858C>A	ENST00000355280.6	+	21	2726	c.2530C>A	c.(2530-2532)Cca>Aca	p.P844T	MINK1_ENST00000347992.7_Missense_Mutation_p.P815T|MINK1_ENST00000453408.3_Missense_Mutation_p.P824T	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	844					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CGAAGGCGGGCCAGCAGAGGG	0.682000													4	64					1.024e-07	1.1197e-07	1	1	0
CDK5RAP2	55755	broad.mit.edu	37	9	123201985	123201985	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:123201985C>G	ENST00000349780.4	-	24	3593	c.3414G>C	c.(3412-3414)caG>caC	p.Q1138H	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.Q1097H|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.Q1106H|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.Q1138H	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1138	Interaction with MAPRE1.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CCTCACTGCACTGGGAGTGCT	0.443000											OREG0019438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	297					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48269342	48269342	+	Splice_Site	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:48269342C>A	ENST00000225964.5	-	30	2145	c.2028_splice	c.e30+1	p.R676_splice		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	676	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CCTACTTACTCTTGCTCCAGA	0.612000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						3	71					6.4e-05	6.83212e-05	1	1	0
RANBP2	5903	broad.mit.edu	37	2	109382975	109382975	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:109382975G>A	ENST00000283195.6	+	20	6106	c.5980G>A	c.(5980-5982)Ggt>Agt	p.G1994S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1994					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	p.G1994R(2)	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						AAACACTTCCGGTGACTTTGA	0.393000													4	378					0	0	1	0	0
BSDC1	55108	broad.mit.edu	37	1	32844350	32844350	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:32844350G>T	ENST00000341071.7	-	6	565	c.554C>A	c.(553-555)tCc>tAc	p.S185Y	BSDC1_ENST00000413080.1_Intron|BSDC1_ENST00000526031.1_Missense_Mutation_p.S73Y|BSDC1_ENST00000446293.2_Missense_Mutation_p.S185Y|BSDC1_ENST00000455895.2_Missense_Mutation_p.S168Y|BSDC1_ENST00000419121.2_Missense_Mutation_p.S112Y|BSDC1_ENST00000449308.1_Missense_Mutation_p.S168Y			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	168	BSD.						protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGCCCGGATGGAGGGGCTGCC	0.622000													10	11					2.17888e-05	2.34741e-05	1	1	0
GBF1	8729	broad.mit.edu	37	10	104125323	104125323	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:104125323G>A	ENST00000369983.3	+	18	2533	c.2273G>A	c.(2272-2274)cGc>cAc	p.R758H		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	758	SEC7.				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	p.R758H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GTGAGTGACCGCAAAAACATT	0.507000													6	459					0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46977033	46977033	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:46977033A>T	ENST00000371253.2	-	11	2353	c.2138T>A	c.(2137-2139)aTa>aAa	p.I713K	GPR110_ENST00000283297.5_Missense_Mutation_p.I516K|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	713					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I713K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						AATGACAGATATAATGAGAGG	0.478000													107	108					0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53227578	53227578	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:53227578A>G	ENST00000330553.5	-	1	501	c.467T>C	c.(466-468)tTc>tCc	p.F156S		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	156	Coil 1A.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTTGTCGATGAAGGAGGCGAA	0.607000													6	819					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20051557	20051557	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:20051557C>A	ENST00000245957.5	+	3	279	c.203C>A	c.(202-204)gCc>gAc	p.A68D	C20orf26_ENST00000451767.2_Missense_Mutation_p.A68D|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.A68D|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	68										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ATGGCCCAGGCCACCTTCCTG	0.483000													6	168					1	1	1	1	0
HENMT1	113802	broad.mit.edu	37	1	109191553	109191553	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:109191553T>A	ENST00000370032.5	-	8	1237	c.817A>T	c.(817-819)Aat>Tat	p.N273Y	HENMT1_ENST00000402983.1_Missense_Mutation_p.N273Y|HENMT1_ENST00000370031.1_Missense_Mutation_p.N304Y|HENMT1_ENST00000493676.1_5'UTR	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	273					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						GACACCTCATTAACCAACACA	0.443000													5	232					0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086225	100086225	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100086225C>T	ENST00000423930.1	+	4	1040	c.881C>T	c.(880-882)gCc>gTc	p.A294V	NYAP1_ENST00000300179.2_Missense_Mutation_p.A294V|NYAP1_ENST00000454988.1_Missense_Mutation_p.A237V			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	294	Pro-rich.																CAGCCTCACGCCCTTCCGCCC	0.667000													4	162					0	0	1	0	0
HSD11B2	3291	broad.mit.edu	37	16	67470762	67470762	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:67470762G>A	ENST00000326152.5	+	5	1206	c.1074G>A	c.(1072-1074)ctG>ctA	p.L358L		NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	358					glucocorticoid biosynthetic process	endoplasmic reticulum|microsome				breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	NADH(DB00157)	CTGAAGGCCTGCGGCGCCGCT	0.662000													6	309					0	0	1	0	0
WDR24	84219	broad.mit.edu	37	16	739506	739506	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:739506G>A	ENST00000293883.4	-	1	894	c.135C>T	c.(133-135)ggC>ggT	p.G45G	WDR24_ENST00000248142.6_Silent_p.G107G|LA16c-313D11.12_ENST00000566927.1_RNA	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	107										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				AGATGCTACGGCCTGCCACGA	0.612000													5	233					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7624020	7624020	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:7624020A>G	ENST00000221249.6	+	31	3999	c.3568A>G	c.(3568-3570)Aag>Gag	p.K1190E	PNPLA6_ENST00000545201.2_Missense_Mutation_p.K1163E|PNPLA6_ENST00000600737.1_Missense_Mutation_p.K1228E|PNPLA6_ENST00000450331.3_Missense_Mutation_p.K1190E|PNPLA6_ENST00000414982.3_Missense_Mutation_p.K1238E	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1229					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GGACTTTGGGAAGTTCGACCA	0.567000													4	453					0	0	1	0	0
CASC3	22794	broad.mit.edu	37	17	38319853	38319853	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:38319853C>T	ENST00000264645.7	+	7	1131	c.905C>T	c.(904-906)gCa>gTa	p.A302V		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	302					mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						AGGAATGCTGCAGGTACCGGC	0.542000													10	1837					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62028991	62028991	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:62028991C>T	ENST00000578147.1	-	14	2722	c.2646G>A	c.(2644-2646)ccG>ccA	p.P882P	SCN4A_ENST00000435607.1_Silent_p.P882P			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	882					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CCTCCTCGGGCGGCTCCTTCT	0.642000													4	57					0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50144947	50144947	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:50144947G>A	ENST00000347869.3	+	12	1161	c.986G>A	c.(985-987)aGc>aAc	p.S329N	RBM5_ENST00000441812.2_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	329	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AACCGCGTCAGCGCTTTCTCT	0.488000													5	290					0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164271737	164271737	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:164271737G>A	ENST00000515560.1	+	4	1834	c.312G>A	c.(310-312)ctG>ctA	p.L104L	NPY5R_ENST00000506953.1_Silent_p.L104L|NPY5R_ENST00000338566.3_Silent_p.L104L			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	104					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				CTGTCTTGCTGGATCAGTGGA	0.393000													6	953					0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16529026	16529026	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:16529026G>A	ENST00000270747.3	-	13	2087	c.1951C>T	c.(1951-1953)Ctg>Ttg	p.L651L	ARHGEF19_ENST00000478117.1_5'UTR|ARHGEF19_ENST00000421561.1_Intron	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	651	PH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CGCACCTGCAGCTCAGCCATC	0.652000													6	325					0	0	1	0	0
PDLIM4	8572	broad.mit.edu	37	5	131606749	131606749	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:131606749G>C	ENST00000253754.3	+	4	533	c.469G>C	c.(469-471)Gcc>Ccc	p.A157P	PDLIM4_ENST00000484620.1_3'UTR|P4HA2_ENST00000471826.1_Intron|PDLIM4_ENST00000379018.3_Missense_Mutation_p.A157P	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	157							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)			CACCCTGCCAGCCCAGATGAG	0.592000													5	646					0	0	1	0	0
GPR155	151556	broad.mit.edu	37	2	175301104	175301104	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:175301104C>A	ENST00000392552.2	-	16	2591	c.2353G>T	c.(2353-2355)Gac>Tac	p.D785Y	GPR155_ENST00000459996.1_5'UTR|GPR155_ENST00000392551.2_Missense_Mutation_p.D785Y|GPR155_ENST00000295500.4_Missense_Mutation_p.D785Y	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	785	DEP.				intracellular signal transduction|transmembrane transport	integral to membrane		p.D785Y(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CTCACCAGGTCACAGCCACAG	0.488000													326	255					4.93365e-123	5.52909e-123	1	1	0
LRRC32	2615	broad.mit.edu	37	11	76371805	76371805	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:76371805G>A	ENST00000407242.2	-	3	1074	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.R278W|LRRC32_ENST00000404995.1_Missense_Mutation_p.R278W	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	278						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GTGGGGAGCCGGATGAGGTTG	0.652000													4	272					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133384990	133384990	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:133384990T>G	ENST00000204726.3	-	5	1223	c.665A>C	c.(664-666)aAg>aCg	p.K222T	GOLGA3_ENST00000545875.1_Missense_Mutation_p.K222T|GOLGA3_ENST00000537452.1_Missense_Mutation_p.K222T|GOLGA3_ENST00000456883.2_Missense_Mutation_p.K222T|GOLGA3_ENST00000450791.2_Missense_Mutation_p.K222T	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	222	Golgi-targeting domain.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	p.K222T(2)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCTGCCCACCTTAGGCCCCCG	0.502000													46	64					0	0	1	0	0
EIF3F	8665	broad.mit.edu	37	11	8016841	8016841	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:8016841T>C	ENST00000533626.1	+	9	1549	c.923T>C	c.(922-924)cTg>cCg	p.L308P	EIF3F_ENST00000537635.1_Missense_Mutation_p.L323P|EIF3F_ENST00000449102.2_Missense_Mutation_p.L159P|EIF3F_ENST00000309828.4_Missense_Mutation_p.L308P			O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3, subunit F	308						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGCCGCTTCCTGATGAGCCTG	0.473000													14	1360					0	0	1	0	0
C10orf2	56652	broad.mit.edu	37	10	102750651	102750651	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:102750651G>A	ENST00000370228.1	+	4	1803	c.1618G>A	c.(1618-1620)Ggg>Agg	p.G540R	C10orf2_ENST00000311916.2_Missense_Mutation_p.G540R|C10orf2_ENST00000473656.1_3'UTR	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	540	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	p.G540W(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CTACATCATCGGGGTCTTTCG	0.473000													12	2159					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160098456	160098456	+	Silent	SNP	G	G	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:160098456G>C	ENST00000361216.3	+	9	1121	c.1032G>C	c.(1030-1032)ctG>ctC	p.L344L	ATP1A2_ENST00000392233.3_Silent_p.L344L|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	344					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	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)			GCCTGACCCTGACAGCCAAGC	0.572000													11	433					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153599315	153599315	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:153599315C>T	ENST00000422373.1	-	2	547	c.299G>A	c.(298-300)cGc>cAc	p.R100H	FLNA_ENST00000344736.4_Missense_Mutation_p.R100H|FLNA_ENST00000360319.4_Missense_Mutation_p.R100H|FLNA_ENST00000369850.3_Missense_Mutation_p.R100H	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	100	Actin-binding.|CH 1.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGCATTTGGCGGAAAGTGGG	0.637000													2	1					0	0	1	0	0
ZNF660	285349	broad.mit.edu	37	3	44635921	44635921	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:44635921A>G	ENST00000322734.2	+	3	569	c.236A>G	c.(235-237)aAg>aGg	p.K79R	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		AAACCCTATAAGTGTAAGGAG	0.453000													4	127					0	0	1	0	0
YARS2	51067	broad.mit.edu	37	12	32900186	32900186	+	Silent	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:32900186A>T	ENST00000324868.8	-	5	1413	c.1386T>A	c.(1384-1386)ctT>ctA	p.L462L	YARS2_ENST00000551673.1_5'UTR	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	462					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	TTCCTATTTTAAGTAAGGAAA	0.338000													3	26					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76335071	76335071	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:76335071A>G	ENST00000357063.3	+	5	1630	c.370A>G	c.(370-372)Aat>Gat	p.N124D	LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000465261.2_5'UTR|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000526202.1_Missense_Mutation_p.N33D|LMO7_ENST00000377534.3_Missense_Mutation_p.N124D|LMO7_ENST00000341547.4_Missense_Mutation_p.N124D			Q8WWI1	LMO7_HUMAN	LIM domain 7	124	CH.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.N124D(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTCACAGGATAATATAAACGT	0.368000													36	80					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51947198	51947198	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:51947198G>A	ENST00000371117.3	-	4	548	c.273C>T	c.(271-273)tgC>tgT	p.C91C	PKHD1_ENST00000340994.4_Silent_p.C91C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	91	IPT/TIG 1; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.C91C(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACCTGGTCCGGCATGTCACCA	0.478000													6	427					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263026	140263026	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:140263026G>A	ENST00000289272.2	+	1	1173	c.1173G>A	c.(1171-1173)ccG>ccA	p.P391P	PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.P391P|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.P391P(4)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTGACGCCGCATGTCCCCT	0.547000													8	290					0	0	1	0	0
OAT	4942	broad.mit.edu	37	10	126100568	126100568	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:126100568A>G	ENST00000368845.5	-	2	265	c.173T>C	c.(172-174)tTa>tCa	p.L58S	OAT_ENST00000539214.1_Intron	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	58					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	GGCTACAGGTAAAGGATGGTA	0.373000													4	434					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149493507	149493507	+	RNA	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:149493507G>A	ENST00000378016.2	+	0	6583							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ATGGACTTTCGGCCGCATGGT	0.612000													3	95					0	0	1	0	0
NHP2L1	4809	broad.mit.edu	37	22	42071074	42071074	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:42071074G>A	ENST00000401959.1	-	4	566	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C|NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C|NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	84					nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						TGCTTGGAGCGCACAAACACG	0.577000													7	852					0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49155128	49155128	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:49155128G>A	ENST00000453664.1	-	4	752	c.434C>T	c.(433-435)gCt>gTt	p.A145V	USP19_ENST00000417901.1_Missense_Mutation_p.A145V|USP19_ENST00000488993.1_5'UTR|USP19_ENST00000398888.2_Missense_Mutation_p.A145V|USP19_ENST00000398892.3_Missense_Mutation_p.A83V|USP19_ENST00000398896.1_5'UTR|USP19_ENST00000398898.2_Missense_Mutation_p.A83V|USP19_ENST00000434032.2_Missense_Mutation_p.A145V	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	145	CS 1.				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		tgtgaaagcagcatctacatc	0.512000													6	660					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46930359	46930359	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:46930359A>T	ENST00000264318.3	-	9	2530	c.1548T>A	c.(1546-1548)agT>agA	p.S516R		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	516			S -> R (in a breast cancer sample; somatic mutation).		gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTCTATTTTACTTGTGCCAG	0.428000													6	197					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46776492	46776492	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:46776492C>T	ENST00000529230.1	-	36	4861	c.4815G>A	c.(4813-4815)ttG>ttA	p.L1605L	CKAP5_ENST00000354558.3_Intron|CKAP5_ENST00000415402.1_Silent_p.L1605L|CKAP5_ENST00000312055.5_Intron			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1605					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CGTCCTTCTCCAATTTCTCAT	0.438000													6	775					0	0	1	0	0
VAV2	7410	broad.mit.edu	37	9	136649535	136649535	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:136649535T>C	ENST00000371851.1	-	16	1833	c.1508A>G	c.(1507-1509)aAc>aGc	p.N503S	VAV2_ENST00000406606.3_Missense_Mutation_p.N503S|VAV2_ENST00000371850.3_Missense_Mutation_p.N513S			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	513	PH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	p.N503S(1)|p.N513S(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TGGCTTGATGTTTGACCTGGC	0.552000													43	252					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132512736	132512736	+	Missense_Mutation	SNP	G	G	A	rs141771146		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:132512736G>A	ENST00000333577.4	+	28	5501	c.5392G>A	c.(5392-5394)Ggg>Agg	p.G1798R	EP400_ENST00000332482.4_Missense_Mutation_p.G1725R|EP400_ENST00000389562.2_Missense_Mutation_p.G1761R|EP400_ENST00000330386.6_Missense_Mutation_p.G1681R|EP400_ENST00000389561.2_Missense_Mutation_p.G1762R			Q96L91	EP400_HUMAN	E1A binding protein p400	1798					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAAGGAGGCCGGGCCAGCGCA	0.552000													7	1156					0	0	1	0	0
CCNJL	79616	broad.mit.edu	37	5	159707565	159707565	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:159707565A>T	ENST00000393977.3	-	3	532	c.247T>A	c.(247-249)Tac>Aac	p.Y83N	CCNJL_ENST00000505287.2_Missense_Mutation_p.Y128N|CCNJL_ENST00000257536.7_Missense_Mutation_p.Y83N|CCNJL_ENST00000541762.1_Missense_Mutation_p.Y82N|CCNJL_ENST00000519673.1_Missense_Mutation_p.Y83N|CCNJL_ENST00000377503.2_5'UTR	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	83	Cyclin N-terminal.					nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCACGGTGTAGAGCTGCTTG	0.632000													8	883					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91726345	91726345	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:91726345C>T	ENST00000359028.2	+	41	10309	c.10084C>T	c.(10084-10086)Cgc>Tgc	p.R3362C	AKAP9_ENST00000358100.2_Missense_Mutation_p.R3308C|AKAP9_ENST00000356239.3_Missense_Mutation_p.R3358C			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3362					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)			AAAACACAGTCGCATAGTAGA	0.443000			T	BRAF	papillary thyroid								7	292					0	0	1	0	0
ZFP69	339559	broad.mit.edu	37	1	40961562	40961562	+	Missense_Mutation	SNP	G	G	A	rs149904505	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:40961562G>A	ENST00000372706.1	+	6	2418	c.1412G>A	c.(1411-1413)cGc>cAc	p.R471H	ZFP69_ENST00000372705.3_Missense_Mutation_p.R471H|RP11-656D10.3_ENST00000450713.1_RNA					ZFP69 zinc finger protein																		GAATGCAACCGCTGTGGAAAA	0.398000													5	271					0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98235213	98235213	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:98235213A>T	ENST00000284049.3	-	7	1205	c.1056T>A	c.(1054-1056)taT>taA	p.Y352*		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	352	Chromo 1.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CTTTTTTCTTATAATTATCCA	0.303000													3	31					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4735249	4735249	+	Missense_Mutation	SNP	C	C	T	rs61757109		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:4735249C>T	ENST00000354582.6	+	33	4455	c.4105C>T	c.(4105-4107)Cgg>Tgg	p.R1369W	ITPR1_ENST00000443694.2_Missense_Mutation_p.R1354W|ITPR1_ENST00000357086.4_Missense_Mutation_p.R1360W|ITPR1_ENST00000302640.8_Missense_Mutation_p.R1354W|ITPR1_ENST00000423119.2_Missense_Mutation_p.R1360W|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.R1345W			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1369					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	p.R1345W(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CCAGATGATGCGGTCAGAACG	0.517000													9	1054					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121437246	121437246	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:121437246G>A	ENST00000393667.3	-	8	984	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	GOLGB1_ENST00000340645.5_Nonsense_Mutation_p.Q287*	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	287					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGGTTTCTCTGCTCAGCAGCA	0.473000													5	275					0	0	1	0	0
SIK2	23235	broad.mit.edu	37	11	111590517	111590517	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:111590517G>A	ENST00000304987.3	+	10	1458	c.1285G>A	c.(1285-1287)Gac>Aac	p.D429N	SIK2_ENST00000533868.1_3'UTR	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	429					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CTGTCTGCTTGACCCTGTGCC	0.532000													6	424					0	0	1	0	0
ARNT2	9915	broad.mit.edu	37	15	80845046	80845046	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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	545					0	0	1	0	0
ZBTB5	9925	broad.mit.edu	37	9	37442383	37442383	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:37442383C>T	ENST00000307750.4	-	2	354	c.166G>A	c.(166-168)Gca>Aca	p.A56T		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	56	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		TCTCCTTCTGCCACTGAGAAC	0.527000													17	2591					0	0	1	0	0
ATG4A	115201	broad.mit.edu	37	X	107381390	107381390	+	Silent	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:107381390A>G	ENST00000372232.3	+	9	942	c.783A>G	c.(781-783)ccA>ccG	p.P261P	ATG4A_ENST00000345734.3_Intron|ATG4A_ENST00000545696.1_Intron|ATG4A_ENST00000372254.3_Silent_p.P237P	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	261					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						GAGGAAAACCAAATAACGCGT	0.458000													5	605					0	0	1	0	0
PLAT	5327	broad.mit.edu	37	8	42046464	42046464	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:42046464C>G	ENST00000220809.4	-	4	497	c.241G>C	c.(241-243)Gtg>Ctg	p.V81L	PLAT_ENST00000519510.1_Missense_Mutation_p.V81L|PLAT_ENST00000270189.6_Missense_Mutation_p.V81L|PLAT_ENST00000524009.1_Missense_Mutation_p.V81L|PLAT_ENST00000429089.2_Missense_Mutation_p.V81L|PLAT_ENST00000352041.3_Intron|PLAT_ENST00000429710.2_Missense_Mutation_p.V81L	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	81	Fibronectin type-I.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTGACAGGCACTGAGTGGCAC	0.572000													7	908					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396945	154396945	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:154396945G>A	ENST00000435029.4	+	1	3686	c.3526G>A	c.(3526-3528)Gag>Aag	p.E1176K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1176	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTGTGACATGGAGCAGGTGCT	0.512000													4	209					0	0	1	0	0
RNF8	9025	broad.mit.edu	37	6	37328288	37328288	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:37328288T>C	ENST00000373479.4	+	2	371	c.178T>C	c.(178-180)Tct>Cct	p.S60P	RNF8_ENST00000394443.4_Missense_Mutation_p.S60P|RNF8_ENST00000469731.1_Missense_Mutation_p.S60P|RNF8_ENST00000479516.1_3'UTR	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	60	FHA.				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						CCTGATGATTTCTCGAAACCA	0.423000													4	455					0	0	1	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182922161	182922161	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:182922161G>A	ENST00000367547.3	-	1	344	c.108C>T	c.(106-108)gcC>gcT	p.A36A	SHCBP1L_ENST00000488956.1_5'UTR	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	108										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						GGGTGGTCGCGGCCGCCGTGT	0.741000													2	6					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45811201	45811201	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr21:45811201A>T	ENST00000397928.1	+	11	1932	c.1487A>T	c.(1486-1488)aAg>aTg	p.K496M	TRPM2_ENST00000397932.2_Missense_Mutation_p.K496M|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.K496M|TRPM2_ENST00000300481.9_Missense_Mutation_p.K496M	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	496						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ATCTCCAACAAGCCTGAGTTT	0.542000													9	741					0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65622727	65622727	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:65622727C>T	ENST00000327987.4	-	11	2013	c.1762G>A	c.(1762-1764)Gca>Aca	p.A588T		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	588	Fibronectin type-III 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCATACACTGCAGTGGGGTCT	0.597000													6	414					0	0	1	0	0
CCDC91	55297	broad.mit.edu	37	12	28458580	28458580	+	Splice_Site	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:28458580A>T	ENST00000545336.1	+	7	528		c.e7-1		CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site|CCDC91_ENST00000381256.1_Splice_Site|CCDC91_ENST00000540401.1_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													5	375					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94055151	94055151	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:94055151T>A	ENST00000297268.6	+	44	3396	c.2925T>A	c.(2923-2925)caT>caA	p.H975Q		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	975					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.H975Q(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTGGCAAACATGGAAACCGTG	0.567000										HNSCC(75;0.22)			6	157					0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56527247	56527247	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:56527247G>A	ENST00000394048.5	+	11	1555	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N	ESYT1_ENST00000267113.4_Missense_Mutation_p.D431N|ESYT1_ENST00000541590.1_Missense_Mutation_p.D431N	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	431						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CGTTCTGGATGATGTAAGTTG	0.488000													5	343					0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46828803	46828803	+	Silent	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:46828803A>G	ENST00000339613.2	+	11	1434	c.1179A>G	c.(1177-1179)ccA>ccG	p.P393P	HIF3A_ENST00000472815.1_Silent_p.P380P|HIF3A_ENST00000300862.3_Silent_p.P447P|HIF3A_ENST00000600383.1_Silent_p.P380P|HIF3A_ENST00000244303.6_Silent_p.P380P|HIF3A_ENST00000420102.2_Silent_p.P398P|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000377670.4_Silent_p.P449P			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CTGATCTCCCAGATGAACTAC	0.498000													7	597					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98039406	98039406	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:98039406C>A	ENST00000370192.3	-	11	1349	c.1249G>T	c.(1249-1251)Gga>Tga	p.G417*		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	417					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTCCATTTTCCAGTTTCATCT	0.438000													7	336					7.48243e-07	8.16646e-07	1	1	0
WDR62	284403	broad.mit.edu	37	19	36564376	36564376	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:36564376C>T	ENST00000401500.2	+	9	1211	c.1176C>T	c.(1174-1176)aaC>aaT	p.N392N	WDR62_ENST00000388999.3_Silent_p.N392N|WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000270301.7_Silent_p.N392N	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	392					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGGACATCAACAGAGTGGGCA	0.587000													12	614					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	64021797	64021797	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:64021797T>C	ENST00000443617.2	-	15	3007	c.2920A>G	c.(2920-2922)Aca>Gca	p.T974A		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	974					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						GATGATGATGTTCCAAGTAGA	0.358000													4	417					0	0	1	0	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316834	39316834	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:39316834C>T	ENST00000390661.3	-	1	149	c.110G>A	c.(109-111)cGc>cAc	p.R37H		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	37	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGCTGGGGCGGCAGCAGGT	0.652000													6	481					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24460619	24460619	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:24460619T>C	ENST00000398319.2	+	15	2391	c.2006T>C	c.(2005-2007)cTc>cCc	p.L669P	CABIN1_ENST00000263119.5_Missense_Mutation_p.L669P|CABIN1_ENST00000405822.2_Missense_Mutation_p.L619P	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	669					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGCCCAACCTCCATAATGAC	0.498000													6	829					0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120437842	120437842	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:120437842C>T	ENST00000369400.1	-	1	1276	c.1118G>A	c.(1117-1119)tGc>tAc	p.C373Y		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	373	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GATATAACTGCAATTGCTAAA	0.403000													6	316					0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6635725	6635725	+	Missense_Mutation	SNP	G	G	C	rs149823221		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:6635725G>C	ENST00000315579.5	+	21	3477	c.2678G>C	c.(2677-2679)tGt>tCt	p.C893S	NCAPD2_ENST00000545962.1_Missense_Mutation_p.C848S|NCAPD2_ENST00000542492.1_3'UTR	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	893					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TTGCAGGGCTGTGCAAAACAG	0.567000													31	204					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40710628	40710628	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:40710628C>G	ENST00000373198.3	-	31	4467	c.4232G>C	c.(4231-4233)tGt>tCt	p.C1411S	PTPRT_ENST00000373201.1_Missense_Mutation_p.C1379S|PTPRT_ENST00000373184.1_Missense_Mutation_p.C1399S|PTPRT_ENST00000373193.3_Missense_Mutation_p.C1392S|PTPRT_ENST00000373187.1_Missense_Mutation_p.C1389S|PTPRT_ENST00000373190.1_Missense_Mutation_p.C1388S|PTPRT_ENST00000356100.2_Missense_Mutation_p.C1398S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1389	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCAGATGGCACAGAAGGTTCC	0.483000													13	2117					0	0	1	0	0
KLHL20	27252	broad.mit.edu	37	1	173720961	173720961	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:173720961C>G	ENST00000209884.4	+	4	792	c.656C>G	c.(655-657)tCc>tGc	p.S219C	KLHL20_ENST00000546011.1_Missense_Mutation_p.S30C	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	219	BACK.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GATATAATATCCAGTGATGAG	0.403000													4	77					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157511244	157511244	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:157511244G>A	ENST00000346085.5	+	15	3763	c.3762G>A	c.(3760-3762)atG>atA	p.M1254I	ARID1B_ENST00000367148.1_Missense_Mutation_p.M1294I|ARID1B_ENST00000275248.4_Missense_Mutation_p.M1236I|ARID1B_ENST00000350026.5_Missense_Mutation_p.M1241I	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1241					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.M1254I(1)|p.M1236I(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGAACTCCATGACTCCAAACG	0.517000													164	76					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161277882	161277882	+	Silent	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:161277882T>A	ENST00000428797.2	+	3	421	c.66T>A	c.(64-66)acT>acA	p.T22T	GABRA1_ENST00000444819.1_Silent_p.T22T|GABRA1_ENST00000023897.6_Silent_p.T22T|GABRA1_ENST00000393943.4_Silent_p.T22T|GABRA1_ENST00000437025.2_Silent_p.T22T|GABRA1_ENST00000420560.1_Silent_p.T22T	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	22					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	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)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GCACACTGACTGGAAGAAGGT	0.413000													62	141					0	0	1	0	0
CCDC14	64770	broad.mit.edu	37	3	123634543	123634543	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:123634543T>C	ENST00000485727.1	-	9	5937	c.1345A>G	c.(1345-1347)Aag>Gag	p.K449E	CCDC14_ENST00000433542.2_Missense_Mutation_p.K608E|CCDC14_ENST00000310351.4_Missense_Mutation_p.K489E|CCDC14_ENST00000489746.1_Missense_Mutation_p.K449E|CCDC14_ENST00000488653.2_Missense_Mutation_p.K649E|CCDC14_ENST00000483247.1_Intron			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	649						centrosome		p.K489E(1)|p.K608E(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GAGAGAAGCTTTGCCATGCTA	0.363000													16	181					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100451384	100451384	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:100451384C>T	ENST00000279907.7	-	15	3601	c.3389G>A	c.(3388-3390)aGt>aAt	p.S1130N	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.S780N	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1130										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ACTTCCATCACTTTCTAATAA	0.338000													23	115					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77296233	77296233	+	Splice_Site	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:77296233T>C	ENST00000341514.6	+	19	3956		c.e19+2		ATP7A_ENST00000343533.5_Splice_Site|ATP7A_ENST00000350425.4_Splice_Site	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide						ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						GCTTCTCAGGTAATTGATAGG	0.328000													3	140					0	0	1	0	0
ZNF732	654254	broad.mit.edu	37	4	265156	265156	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:265156G>C	ENST00000419098.1	-	4	1500	c.1490C>G	c.(1489-1491)aCt>aGt	p.T497S		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T497S(1)		endometrium(1)|lung(2)	3						TTTCTCTCCAGTATGAATTGT	0.378000													5	9					0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135825851	135825851	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:135825851T>C	ENST00000250617.6	-	5	1759	c.554A>G	c.(553-555)gAc>gGc	p.D185G	ARHGEF6_ENST00000535227.1_Missense_Mutation_p.D31G|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.D31G|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.D31G	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	185	SH3.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GTAAATGATGTCCCCCTTACA	0.423000													9	312					0	0	1	0	0
ADD1	118	broad.mit.edu	37	4	2900173	2900173	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:2900173G>C	ENST00000355842.3	+	9	1762	c.899G>C	c.(898-900)cGg>cCg	p.R300P	ADD1_ENST00000398129.1_Missense_Mutation_p.R300P|ADD1_ENST00000398123.2_Missense_Mutation_p.R300P|ADD1_ENST00000398125.1_Missense_Mutation_p.R300P|ADD1_ENST00000446856.1_Missense_Mutation_p.R300P|ADD1_ENST00000264758.7_Missense_Mutation_p.R300P|ADD1_ENST00000503455.2_Missense_Mutation_p.R300P|ADD1_ENST00000513328.2_Missense_Mutation_p.R300P			P35611	ADDA_HUMAN	adducin 1 (alpha)	300					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTATTCTCCGGAACCATGGG	0.488000													6	420					0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78398012	78398012	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:78398012C>T	ENST00000238561.5	+	10	1457	c.1358C>T	c.(1357-1359)tCc>tTc	p.S453F	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.S385F	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	460	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		AGCGCCAGCTCCTTTCTCAAC	0.652000													8	661					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25899693	25899693	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:25899693A>G	ENST00000520164.1	-	2	743	c.206T>C	c.(205-207)tTc>tCc	p.F69S		NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	69					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CGCCAGGACGAAGTGAAAGAA	0.577000													4	258					0	0	1	0	0
GPATCH4	54865	broad.mit.edu	37	1	156568273	156568273	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:156568273G>A	ENST00000368232.4	-	3	225	c.93C>T	c.(91-93)ggC>ggT	p.G31G	GPATCH4_ENST00000497287.1_5'UTR|GPATCH4_ENST00000334588.7_Intron|GPATCH4_ENST00000438976.2_Silent_p.G36G	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	31	G-patch.					intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTCCTTCCGGCCGAGGCCTT	0.562000													8	1152					0	0	1	0	0
LOH12CR1	118426	broad.mit.edu	37	12	12618552	12618552	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:12618552C>T	ENST00000314565.4	+	4	764	c.433C>T	c.(433-435)Cag>Tag	p.Q145*	LOH12CR1_ENST00000542728.1_Nonsense_Mutation_p.Q126*|LOH12CR1_ENST00000298571.6_Nonsense_Mutation_p.Q97*	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN	loss of heterozygosity, 12, chromosomal region 1	145								p.Q145*(1)		kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		GTATGCCGAGCAGATCCAGAA	0.527000													31	159					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111637961	111637961	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:111637961G>A	ENST00000431670.2	+	4	2173	c.1762G>A	c.(1762-1764)Gct>Act	p.A588T	PHLDB2_ENST00000481953.1_Missense_Mutation_p.A588T|PHLDB2_ENST00000393925.3_Missense_Mutation_p.A588T|PHLDB2_ENST00000412622.1_Missense_Mutation_p.A588T|PHLDB2_ENST00000393923.3_Missense_Mutation_p.A615T|PHLDB2_ENST00000495180.1_Missense_Mutation_p.A174T	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	588						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TCAGGAGTTGGCTGCAATGGA	0.408000													4	184					0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141334913	141334913	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:141334913G>A	ENST00000231484.3	-	1	3714	c.2504C>T	c.(2503-2505)cCg>cTg	p.P835L		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	835					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)			GCTCTCCGCCGGTGCTCCCTG	0.637000													5	358					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144999370	144999370	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:144999370G>A	ENST00000322810.4	-	31	5307	c.5138C>T	c.(5137-5139)gCg>gTg	p.A1713V	PLEC_ENST00000527096.1_Missense_Mutation_p.A1599V|PLEC_ENST00000357649.2_Missense_Mutation_p.A1580V|PLEC_ENST00000356346.3_Missense_Mutation_p.A1562V|PLEC_ENST00000354958.2_Missense_Mutation_p.A1554V|PLEC_ENST00000436759.2_Missense_Mutation_p.A1603V|PLEC_ENST00000345136.3_Missense_Mutation_p.A1576V|PLEC_ENST00000398774.2_Missense_Mutation_p.A1544V|PLEC_ENST00000354589.3_Missense_Mutation_p.A1576V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1713	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGCAGCTCCGCCTCTGCACT	0.716000													2	2					0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207851541	207851541	+	Splice_Site	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:207851541A>T	ENST00000508064.2	+	3	337		c.e3-1		CR1L_ENST00000530905.1_Splice_Site	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like							cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCTTTCCTGTAGGTAAATCAT	0.378000													7	259					0	0	1	0	0
C9orf43	257169	broad.mit.edu	37	9	116187992	116187992	+	Missense_Mutation	SNP	G	G	A	rs145109883		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:116187992G>A	ENST00000288462.4	+	11	1458	c.1012G>A	c.(1012-1014)Gtt>Att	p.V338I	C9orf43_ENST00000374165.1_Missense_Mutation_p.V338I	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	338										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						AGTTACCACCGTTCATGACCG	0.478000													5	631					0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101378874	101378874	+	Splice_Site	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:101378874T>A	ENST00000312938.4	-	6	2381		c.e6-2			NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTTACACAACTAAAAGAAAAA	0.323000													5	94					0	0	1	0	0
LHFP	10186	broad.mit.edu	37	13	39918104	39918104	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:39918104G>A	ENST00000379589.3	-	4	1034	c.572C>T	c.(571-573)tCg>tTg	p.S191L		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	191						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		TTTCTTGCCCGAAAAGCAAGC	0.557000			T	HMGA2	lipoma								6	448					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104640149	104640149	+	Silent	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:104640149G>T	ENST00000315264.7	+	9	1935	c.1557G>T	c.(1555-1557)tcG>tcT	p.S519S	KIF26A_ENST00000423312.2_Silent_p.S658S			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	658	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TGTCCCTGTCGGCCCTGGGCA	0.706000													2	3					1	1	1	1	0
ANKRD34A	284615	broad.mit.edu	37	1	145474166	145474166	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:145474166C>G	ENST00000323397.4	+	4	2131	c.838C>G	c.(838-840)Ctg>Gtg	p.L280V		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	280	Pro-rich.							p.L280V(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGCCTGACCCTGACCGGTCG	0.662000													56	58					0	0	1	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33906764	33906764	+	Silent	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:33906764T>C	ENST00000307296.3	+	17	2651	c.2274T>C	c.(2272-2274)ccT>ccC	p.P758P	PDCD6IP_ENST00000457054.2_Silent_p.P763P			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	758	Interaction with EIAV p9.|Pro-rich.|Self-association.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						CAGCCAGGCCTCCACCACCTG	0.483000													4	58					0	0	1	0	0
CREB3	10488	broad.mit.edu	37	9	35736669	35736669	+	Silent	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:35736669A>G	ENST00000353704.2	+	9	1500	c.1062A>G	c.(1060-1062)ggA>ggG	p.G354G	CREB3_ENST00000486056.1_3'UTR	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	378	Pro-rich.				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity	p.G354G(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		GGAAGGGAGGATGGCTTCCTA	0.592000											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	312	504					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74274362	74274362	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:74274362T>C	ENST00000295897.4	+	4	411	c.322T>C	c.(322-324)Tat>Cat	p.Y108H	ALB_ENST00000509063.1_Missense_Mutation_p.Y108H|ALB_ENST00000415165.2_Intron|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000503124.1_Intron|ALB_ENST00000401494.3_Intron	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	108	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TCGTGAAACCTATGGTGAAAT	0.428000													3	123					0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46787403	46787403	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:46787403A>G	ENST00000230588.4	+	7	527	c.518A>G	c.(517-519)gAt>gGt	p.D173G		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	173	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			ACGGACCGGGATGATTATGTG	0.473000													8	1089					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100680546	100680546	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100680546T>C	ENST00000306151.4	+	3	5913	c.5849T>C	c.(5848-5850)cTt>cCt	p.L1950P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1950	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAACAACTCTTGCTGACACC	0.488000													8	913					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24554859	24554859	+	Splice_Site	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:24554859T>C	ENST00000535378.1	-	20	3473	c.2830_splice	c.e20-1	p.E944_splice	KIAA0319_ENST00000537886.1_Intron|KIAA0319_ENST00000543707.1_Splice_Site_p.E953_splice|KIAA0319_ENST00000378214.3_Splice_Site_p.E953_splice|KIAA0319_ENST00000430948.2_Splice_Site_p.E908_splice	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	953					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TATACTCCACTCTGAAACACA	0.378000													7	301					0	0	1	0	0
KLF8	11279	broad.mit.edu	37	X	56276690	56276690	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:56276690G>T	ENST00000374928.3	+	3	520	c.34G>T	c.(34-36)Gag>Tag	p.E12*	KLF8_ENST00000468660.1_Nonsense_Mutation_p.E12*	NM_001159296.1	NP_001152768.1	O95600	KLF8_HUMAN	Kruppel-like factor 8	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						AAACAACTTGGAGGTCCAACT	0.343000													7	154					0.0381472	0.0394976	1	1	0
SMCR8	140775	broad.mit.edu	37	17	18221057	18221057	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:18221057C>T	ENST00000406438.3	+	1	2434	c.1954C>T	c.(1954-1956)Ctg>Ttg	p.L652L		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	652										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CGCTTATGAGCTGGACCCGAG	0.562000													9	773					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54305637	54305637	+	Silent	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:54305637A>G	ENST00000545554.1	+	1	537	c.537A>G	c.(535-537)ggA>ggG	p.G179G	UNC13C_ENST00000537900.1_Silent_p.G179G|UNC13C_ENST00000260323.11_Silent_p.G179G			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	179					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TAAAACTGGGAGCTTTACGAA	0.453000													6	723					0	0	1	0	0
SND1	27044	broad.mit.edu	37	7	127334966	127334966	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:127334966C>T	ENST00000354725.3	+	3	507	c.313C>T	c.(313-315)Cag>Tag	p.Q105*		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	105	TNase-like 1.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	p.Q105K(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CAAGACTCCCCAGGGGCGAGA	0.453000													8	465					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68133120	68133120	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:68133120C>T	ENST00000294304.7	+	5	1071	c.965C>T	c.(964-966)gCc>gTc	p.A322V		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	322	EGF-like 1.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TACACATGCGCCTGCCCCACG	0.682000													4	176					0	0	1	0	0
BICD2	23299	broad.mit.edu	37	9	95481510	95481510	+	Missense_Mutation	SNP	G	G	A	rs142203302		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:95481510G>A	ENST00000356884.6	-	5	1484	c.1417C>T	c.(1417-1419)Cgc>Tgc	p.R473C	BICD2_ENST00000375512.3_Missense_Mutation_p.R473C	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	473					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GCCTCATAGCGGCCCTTCTCC	0.687000													4	86					0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94716560	94716560	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:94716560C>A	ENST00000304338.3	+	15	1817	c.1663C>A	c.(1663-1665)Cgt>Agt	p.R555S		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	555						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CATTTTTCTGCGTTATAATCG	0.338000													4	76					1	1	1	1	0
CHAT	1103	broad.mit.edu	37	10	50828610	50828610	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:50828610G>A	ENST00000395562.2	+	5	872	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	CHAT_ENST00000395559.2_Missense_Mutation_p.A99T|CHAT_ENST00000455728.2_Missense_Mutation_p.A99T|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000339797.1_Missense_Mutation_p.A99T|CHAT_ENST00000351556.3_Missense_Mutation_p.A99T|CHAT_ENST00000337653.2_Missense_Mutation_p.A217T	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	217					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CTCCAGCCCTGCCGTGATCTT	0.612000													5	345					0	0	1	0	0
GATAD2A	54815	broad.mit.edu	37	19	19606631	19606631	+	Silent	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:19606631C>A	ENST00000404158.1	+	8	1111	c.693C>A	c.(691-693)tcC>tcA	p.S231S	GATAD2A_ENST00000252577.5_Silent_p.S231S|GATAD2A_ENST00000537887.1_Intron|GATAD2A_ENST00000494516.1_Intron|GATAD2A_ENST00000358713.3_Silent_p.S231S|GATAD2A_ENST00000429563.2_Silent_p.S58S|GATAD2A_ENST00000360315.3_Silent_p.S231S			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	231					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						AGCAGGCGTCCTCGAAGCTGG	0.647000													4	68					0.150653	0.154618	1	1	0
DHX16	8449	broad.mit.edu	37	6	30623271	30623271	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:30623271G>A	ENST00000376442.3	-	17	2797	c.2602C>T	c.(2602-2604)Cgt>Tgt	p.R868C	DHX16_ENST00000376437.5_Missense_Mutation_p.R387C	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	868					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						AAGTTGACACGGGCATTGTCA	0.537000													6	928					0	0	1	0	0
TPM1	7168	broad.mit.edu	37	15	63354948	63354948	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:63354948C>T	ENST00000560959.1	+	7	782	c.768C>T	c.(766-768)tgC>tgT	p.C256C	TPM1_ENST00000403994.3_Intron|TPM1_ENST00000358278.3_Intron|TPM1_ENST00000404484.4_Intron|TPM1_ENST00000559556.1_Intron|TPM1_ENST00000334895.5_Intron|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000288398.6_Intron|TPM1_ENST00000357980.4_Intron|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000559281.1_Intron|TPM1_ENST00000317516.7_Intron|TPM1_ENST00000559397.1_Intron			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	0					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						CGCTCCTTTGCACTTGCACAT	0.423000													20	8					0	0	1	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128887221	128887221	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:128887221C>T	ENST00000371106.3	+	11	1296	c.1104C>T	c.(1102-1104)agC>agT	p.S368S		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	368					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TCAAGGCCAGCCACGTAAGTC	0.542000													4	211					0	0	1	0	0
SPINT2	10653	broad.mit.edu	37	19	38774375	38774375	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:38774375A>G	ENST00000301244.7	+	2	650	c.215A>G	c.(214-216)gAc>gGc	p.D72G	SPINT2_ENST00000454580.3_Intron|SPINT2_ENST00000587090.1_Missense_Mutation_p.D22G	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	72	BPTI/Kunitz inhibitor 1.				cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGGGGCTGTGACGGAAACAGC	0.522000													6	383					0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71129001	71129001	+	Splice_Site	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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	226					0	0	1	0	0
C2CD5	9847	broad.mit.edu	37	12	22671015	22671015	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:22671015G>A	ENST00000333957.4	-	8	1112	c.857C>T	c.(856-858)cCt>cTt	p.P286L	C2CD5_ENST00000396028.2_Intron|C2CD5_ENST00000536386.1_Intron|C2CD5_ENST00000544930.1_Intron|C2CD5_ENST00000545552.1_Intron|C2CD5_ENST00000542676.1_Missense_Mutation_p.P286L|C2CD5_ENST00000446597.1_Missense_Mutation_p.P286L	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		GTTTTTCAGAGGGGTTGAGGG	0.428000													141	468					0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49154764	49154764	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:49154764G>A	ENST00000453664.1	-	6	925	c.607C>T	c.(607-609)Ccg>Tcg	p.P203S	USP19_ENST00000417901.1_Missense_Mutation_p.P213S|USP19_ENST00000488993.1_5'UTR|USP19_ENST00000398888.2_Intron|USP19_ENST00000398892.3_Missense_Mutation_p.P150S|USP19_ENST00000398896.1_Intron|USP19_ENST00000398898.2_Missense_Mutation_p.P150S|USP19_ENST00000434032.2_Missense_Mutation_p.P213S	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	212					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGCAGCCCCGGCACCAGCTCC	0.607000													4	89					0	0	1	0	0
PTP4A2	8073	broad.mit.edu	37	1	32374507	32374507	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:32374507T>C	ENST00000356536.3	-	4	1237	c.244A>G	c.(244-246)Acc>Gcc	p.T82A	RP11-84A19.4_ENST00000602889.1_lincRNA|PTP4A2_ENST00000602725.1_Silent_p.R150R|PTP4A2_ENST00000344035.6_Silent_p.R150R|PTP4A2_ENST00000470404.1_3'UTR|PTP4A2_ENST00000457805.2_Silent_p.R119R			Q12974	TP4A2_HUMAN	protein tyrosine phosphatase type IVA, member 2	0	Tyrosine-protein phosphatase.					early endosome|plasma membrane	prenylated protein tyrosine phosphatase activity|protein binding|protein tyrosine/serine/threonine phosphatase activity			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				GCATCTTAGGTCGGTATTTCT	0.398000													10	1541					0	0	1	0	0
PTGR1	22949	broad.mit.edu	37	9	114337124	114337124	+	Splice_Site	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:114337124T>A	ENST00000407693.2	-	8	914		c.e8-2		PTGR1_ENST00000309195.5_Splice_Site|PTGR1_ENST00000238248.3_Splice_Site|RP11-16L21.7_ENST00000450154.1_RNA|ZNF483_ENST00000358151.4_Intron|PTGR1_ENST00000538962.1_Splice_Site	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1						leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						TCCACCTACCTAAACAGATAG	0.368000													5	187					0	0	1	0	0
SYNPO	11346	broad.mit.edu	37	5	150029606	150029606	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:150029606C>T	ENST00000394243.1	+	3	2875	c.2501C>T	c.(2500-2502)cCc>cTc	p.P834L	SYNPO_ENST00000522122.1_Missense_Mutation_p.P834L|SYNPO_ENST00000307662.4_Missense_Mutation_p.P590L|SYNPO_ENST00000519664.1_Missense_Mutation_p.P590L	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	834	Pro-rich.				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGCCTCGCCCGCCAAGCCC	0.677000													4	319					0	0	1	0	0
TIGD6	81789	broad.mit.edu	37	5	149374551	149374551	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:149374551C>T	ENST00000296736.3	-	2	2135	c.1361G>A	c.(1360-1362)gGg>gAg	p.G454E	TIGD6_ENST00000515406.2_Missense_Mutation_p.G454E	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	454					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGATACCTCCCCTTCATCTTC	0.443000													4	436					0	0	1	0	0
NCS1	23413	broad.mit.edu	37	9	132980220	132980220	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:132980220T>A	ENST00000372398.3	+	3	285	c.199T>A	c.(199-201)Ttt>Att	p.F67I	NCS1_ENST00000458469.1_Missense_Mutation_p.F49I	NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN	neuronal calcium sensor 1	67	EF-hand 2.				negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding			large_intestine(1)|lung(4)|stomach(1)	6						GTTTGCCACATTTGTTTTCAA	0.562000													6	349					0	0	1	0	0
STX1A	6804	broad.mit.edu	37	7	73118581	73118581	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:73118581G>A	ENST00000222812.3	-	6	389	c.363C>T	c.(361-363)tcC>tcT	p.S121S	WBSCR22_ENST00000423166.2_3'UTR|STX1A_ENST00000395154.3_Silent_p.S121S|STX1A_ENST00000395155.3_Silent_p.S121S|STX1A_ENST00000395156.3_Silent_p.S121S	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	121					energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGGACAGCGTGGAGTGCTGGG	0.657000													3	59					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25765997	25765997	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:25765997C>T	ENST00000520164.1	-	7	1163	c.626G>A	c.(625-627)cGg>cAg	p.R209Q	EBF2_ENST00000408929.3_Missense_Mutation_p.R61Q	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	209					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TACCTGAAACCGTCTCATGTC	0.363000													3	112					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42492513	42492513	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:42492513G>A	ENST00000545399.1	-	3	302	c.149C>T	c.(148-150)tCa>tTa	p.S50L	ATP1A3_ENST00000468774.2_5'UTR|ATP1A3_ENST00000543770.1_Missense_Mutation_p.S48L|ATP1A3_ENST00000302102.5_Missense_Mutation_p.S37L|ATP1A3_ENST00000602133.1_Missense_Mutation_p.S7L	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	37					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CTCTTCCACTGACATCTTGTG	0.607000													15	2383					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121976052	121976052	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:121976052G>A	ENST00000498619.1	+	3	748	c.310G>A	c.(310-312)Gtt>Att	p.V104I	CASR_ENST00000490131.1_Missense_Mutation_p.V104I|CASR_ENST00000296154.5_Missense_Mutation_p.V104I	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	104					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TTGCAACACCGTTTCTAAGGC	0.453000													8	1016					0	0	1	0	0
MC2R	4158	broad.mit.edu	37	18	13884682	13884682	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr18:13884682C>T	ENST00000327606.3	-	2	1016	c.836G>A	c.(835-837)cGg>cAg	p.R279Q		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	279					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CTCTGGGCTCCGGAAGGCATA	0.498000													8	282					0	0	1	0	0
HIST1H2AK	8330	broad.mit.edu	37	6	27805804	27805804	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:27805804T>C	ENST00000330180.2	-	1	313	c.314A>G	c.(313-315)cAg>cGg	p.Q105R		NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	105					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						GACACCACCCTGGGCGATGGT	0.587000													9	938					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50758562	50758562	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:50758562G>A	ENST00000404971.1	-	12	3609	c.2270C>T	c.(2269-2271)aCg>aTg	p.T757M	NRXN1_ENST00000406316.2_Missense_Mutation_p.T717M|NRXN1_ENST00000401669.2_Missense_Mutation_p.T717M|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.T709M|NRXN1_ENST00000406859.3_Missense_Mutation_p.T717M|NRXN1_ENST00000402717.3_Missense_Mutation_p.T709M	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	717	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCTCAAAACCGTTGCCTCTAG	0.393000													3	57					0	0	1	0	0
C5AR1	728	broad.mit.edu	37	19	47823116	47823116	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:47823116A>G	ENST00000355085.3	+	2	104	c.82A>G	c.(82-84)Aaa>Gaa	p.K28E		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	28					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CCCTGTGGATAAAACTTCTAA	0.527000													4	276					0	0	1	0	0
KLF11	8462	broad.mit.edu	37	2	10186489	10186489	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:10186489G>A	ENST00000535335.1	+	2	420	c.204G>A	c.(202-204)gtG>gtA	p.V68V	KLF11_ENST00000540845.1_Silent_p.V68V|KLF11_ENST00000305883.1_Silent_p.V85V	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	85					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		CCACCACTGTGCATATGGATG	0.502000													31	171					0	0	1	0	0
BIVM	54841	broad.mit.edu	37	13	103492160	103492160	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:103492160A>G	ENST00000257336.1	+	11	2136	c.1457A>G	c.(1456-1458)cAt>cGt	p.H486R	BIVM_ENST00000419638.1_3'UTR|BIVM-ERCC5_ENST00000602836.1_Intron|BIVM_ENST00000448849.2_Missense_Mutation_p.H264R	NM_017693.3	NP_060163.2			basic, immunoglobulin-like variable motif containing											endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TCTAGTATCCATGAGAGAAGG	0.443000													7	508					0	0	1	0	0
UMOD	7369	broad.mit.edu	37	16	20352527	20352527	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:20352527C>T	ENST00000396134.2	-	8	1685	c.1562G>A	c.(1561-1563)gGc>gAc	p.G521D	UMOD_ENST00000302509.4_Missense_Mutation_p.G488D|UMOD_ENST00000396142.2_Missense_Mutation_p.G488D|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000424589.1_Missense_Mutation_p.G521D|UMOD_ENST00000396138.4_Missense_Mutation_p.G537D|UMOD_ENST00000570689.1_Missense_Mutation_p.G488D	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	488	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CAACATGGTGCCCACGTAGAG	0.582000													5	550					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136584121	136584121	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:136584121C>T	ENST00000371872.4	-	7	1216	c.959G>A	c.(958-960)cGc>cAc	p.R320H	SARDH_ENST00000439388.1_Missense_Mutation_p.R320H|SARDH_ENST00000371867.1_Missense_Mutation_p.R231H|SARDH_ENST00000422262.2_Missense_Mutation_p.R152H	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	320					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCCTTGGAGGCGGAGGTAGAC	0.572000													13	703					0	0	1	0	0
DNAAF2	55172	broad.mit.edu	37	14	50101771	50101771	+	Silent	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:50101771G>T	ENST00000298292.8	-	1	177	c.97C>A	c.(97-99)Cgg>Agg	p.R33R	DNAAF2_ENST00000406043.3_Silent_p.R33R	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	33					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						AACATTCGCCGGAACTCCGGG	0.682000													2	3					1	1	1	1	0
KIF26A	26153	broad.mit.edu	37	14	104639446	104639446	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:104639446T>G	ENST00000315264.7	+	7	1514	c.1136T>G	c.(1135-1137)gTc>gGc	p.V379G	KIF26A_ENST00000423312.2_Missense_Mutation_p.V518G			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	518	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TCCGTCCGGGTCTCAGCCGTG	0.701000													2	5					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34130561	34130561	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:34130561C>T	ENST00000389232.4	+	89	12450	c.12380C>T	c.(12379-12381)gCg>gTg	p.A4127V	RYR3_ENST00000415757.3_Missense_Mutation_p.A4122V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4127					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTAGAAATTGCGGGTGAAGAG	0.483000													4	440					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651084	121651084	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:121651084G>A	ENST00000393386.2	+	12	2395	c.1984G>A	c.(1984-1986)Gca>Aca	p.A662T	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.A662T	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	662					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGACATAACAGCACAGCCCGA	0.433000													4	210					0	0	1	0	0
SCAF8	22828	broad.mit.edu	37	6	155123148	155123148	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:155123148C>A	ENST00000367178.3	+	7	1226	c.650C>A	c.(649-651)cCc>cAc	p.P217H	SCAF8_ENST00000417268.1_Missense_Mutation_p.P217H|SCAF8_ENST00000367186.4_Missense_Mutation_p.P283H	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	217	Gln-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	p.P217H(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CAACAGAAGCCCCAGCCTTCC	0.428000													133	118					5.19043e-41	5.79466e-41	1	1	0
PLA2G4D	283748	broad.mit.edu	37	15	42361123	42361123	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:42361123G>A	ENST00000290472.3	-	20	2341	c.2247C>T	c.(2245-2247)ccC>ccT	p.P749P		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	749	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GGAGCTCTGCGGGGCTGCGCT	0.687000													3	29					0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10791902	10791902	+	Silent	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:10791902C>A	ENST00000449870.1	+	11	1394	c.1077C>A	c.(1075-1077)atC>atA	p.I359I	ILF3_ENST00000589998.1_Silent_p.I359I|ILF3_ENST00000250241.8_Silent_p.I359I|ILF3_ENST00000588657.1_Silent_p.I359I|ILF3_ENST00000318511.3_Silent_p.I359I|ILF3_ENST00000420083.1_Silent_p.I359I|ILF3_ENST00000407004.3_Silent_p.I359I|ILF3_ENST00000590261.1_Silent_p.I359I|ILF3_ENST00000592763.1_Silent_p.I359I	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	359					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CAGTTCAGATCCCACCAAGCA	0.572000													5	139					8.12818e-05	8.66118e-05	1	1	0
KCNQ5	56479	broad.mit.edu	37	6	73332245	73332245	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:73332245C>T	ENST00000342056.2	+	1	726	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	KCNQ5_ENST00000370398.1_Missense_Mutation_p.R110W|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R110W|KCNQ5_ENST00000370392.1_Missense_Mutation_p.R110W|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R110W|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R110W|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R110W|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R110W	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	110					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.V111fs*41(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CAAGTACCGGCGGGTGCAGAA	0.667000													3	10					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142609690	142609690	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:142609690G>T	ENST00000265310.1	-	13	2094	c.1746C>A	c.(1744-1746)caC>caA	p.H582Q		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	582					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)					CCACCCTCCAGTGGGTGTCGC	0.517000													31	1081					2.44723e-14	2.71142e-14	1	1	0
C19orf40	91442	broad.mit.edu	37	19	33464192	33464192	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:33464192G>A	ENST00000588258.1	+	2	200	c.90G>A	c.(88-90)ctG>ctA	p.L30L	C19orf40_ENST00000590281.1_Silent_p.L30L|C19orf40_ENST00000590179.1_Intron|C19orf40_ENST00000589646.1_Intron	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	30					DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					GGTCACAGCTGGCGCAGGAGA	0.532000								Direct reversal of damage					10	1393					0	0	1	0	0
WLS	79971	broad.mit.edu	37	1	68611602	68611602	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:68611602T>C	ENST00000262348.4	-	9	1481	c.1228A>G	c.(1228-1230)Aag>Gag	p.K410E	WLS_ENST00000370976.3_Missense_Mutation_p.K319E|WLS_ENST00000491811.1_5'UTR|WLS_ENST00000354777.2_Missense_Mutation_p.K408E|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000540432.1_Missense_Mutation_p.K410E|GNG12-AS1_ENST00000420587.1_RNA	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	410					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity	p.K410E(1)|p.K408E(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						CTGGACTGCTTCCCACTGATG	0.517000													70	797					0	0	1	0	0
DTX4	23220	broad.mit.edu	37	11	58959700	58959700	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:58959700G>A	ENST00000227451.3	+	6	1455	c.1351G>A	c.(1351-1353)Gcc>Acc	p.A451T	DTX4_ENST00000531902.1_3'UTR|DTX4_ENST00000532982.1_Missense_Mutation_p.A345T	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	451					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CTGCTTGGTTGCCATGTACAA	0.582000													7	1248					0	0	1	0	0
S100A9	6280	broad.mit.edu	37	1	153330777	153330777	+	Silent	SNP	G	G	A	rs112531265	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:153330777G>A	ENST00000368738.3	+	2	61	c.18G>A	c.(16-18)tcG>tcA	p.S6S		NM_002965.3	NP_002956.1	P06702	S10A9_HUMAN	S100 calcium binding protein A9	6				S -> H (in Ref. 12; AA sequence).	cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAAAATGTCGCAGCTGGAAC	0.478000													5	371					0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16593959	16593959	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:16593959G>A	ENST00000443444.2	+	1	385	c.245G>A	c.(244-246)gGc>gAc	p.G82D	CCDC144A_ENST00000360524.8_Missense_Mutation_p.G82D|CCDC144A_ENST00000340621.5_Missense_Mutation_p.G82D|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.G82D|CCDC144A_ENST00000456009.1_Missense_Mutation_p.G82D|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000399273.1_Missense_Mutation_p.G82D			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	82																	GAAGATCTTGGCGAGCTCCAC	0.627000													35	481					0	0	1	0	0
TPK1	27010	broad.mit.edu	37	7	144150707	144150707	+	Silent	SNP	G	G	A	rs113536847	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:144150707G>A	ENST00000360057.3	-	9	765	c.663C>T	c.(661-663)taC>taT	p.Y221Y	TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000549981.1_3'UTR|TPK1_ENST00000378099.3_Silent_p.Y172Y|TPK1_ENST00000538212.2_Silent_p.Y167Y	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	221					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	CAGACCCGTCGTAGGTATTGG	0.428000													5	549					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5244191	5244191	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:5244191G>A	ENST00000372412.4	-	11	1527	c.1294C>T	c.(1294-1296)Cgg>Tgg	p.R432W	PTPRS_ENST00000262963.6_Missense_Mutation_p.R427W|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000348075.2_Missense_Mutation_p.R418W|PTPRS_ENST00000353284.2_Missense_Mutation_p.R418W|PTPRS_ENST00000588012.1_Missense_Mutation_p.R418W|PTPRS_ENST00000587303.1_Missense_Mutation_p.R431W|PTPRS_ENST00000357368.4_Missense_Mutation_p.R431W|PTPRS_ENST00000592099.1_Missense_Mutation_p.R418W			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	431	Fibronectin type-III 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TGCACGTTCCGCGGCGCGCTG	0.697000													7	718					0	0	1	0	0
C14orf177	283598	broad.mit.edu	37	14	99183502	99183502	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:99183502G>T	ENST00000325812.2	+	4	688	c.269G>T	c.(268-270)gGg>gTg	p.G90V		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	90								p.G90V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				ACTTCTCCAGGGTCATGTAAT	0.433000													7	332					1.33987e-11	1.47059e-11	1	1	0
PREP	5550	broad.mit.edu	37	6	105800954	105800954	+	Splice_Site	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:105800954T>A	ENST00000369110.3	-	7	910		c.e7-2			NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase						proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	ATCAGATAACTAAAAAAGAAA	0.343000													5	130					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222320373	222320373	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:222320373A>G	ENST00000281821.2	-	8	1650	c.1609T>C	c.(1609-1611)Tcc>Ccc	p.S537P	EPHA4_ENST00000409938.1_Missense_Mutation_p.S537P|EPHA4_ENST00000409854.1_Missense_Mutation_p.S537P|EPHA4_ENST00000392071.4_Missense_Mutation_p.S486P	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	537						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ATGATCCGGGAAGGCACTGGG	0.488000													3	95					0	0	1	0	0
MPV17L2	84769	broad.mit.edu	37	19	18305895	18305895	+	Splice_Site	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:18305895G>A	ENST00000599612.2	+	4	663	c.564_splice	c.e4+1	p.R188_splice	MPV17L2_ENST00000534474.2_Splice_Site_p.P162_splice	NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	188						integral to membrane				large_intestine(1)|lung(2)|urinary_tract(1)	4						TTGAAGTACCGGGTGAGTGTG	0.612000													6	521					0	0	1	0	0
METTL7B	196410	broad.mit.edu	37	12	56075856	56075856	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:56075856C>A	ENST00000394252.3	+	1	527	c.318C>A	c.(316-318)ttC>ttA	p.F106L		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	106							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						TTGAGAAGTTCCTGACAAAGA	0.572000													4	235					0.184627	0.189154	1	1	0
REPIN1	29803	broad.mit.edu	37	7	150069860	150069860	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:150069860G>A	ENST00000397281.2	+	4	2019	c.1530G>A	c.(1528-1530)acG>acA	p.T510T	REPIN1_ENST00000489432.2_Silent_p.T567T|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000444957.1_Silent_p.T510T|REPIN1_ENST00000540729.1_Silent_p.T510T|REPIN1_ENST00000425389.2_Silent_p.T510T	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	510					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GCATCCACACGGGCGAGCGGC	0.667000													5	377					0	0	1	0	0
VSIG1	340547	broad.mit.edu	37	X	107316490	107316490	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:107316490C>T	ENST00000415430.3	+	6	848	c.687C>T	c.(685-687)acC>acT	p.T229T	VSIG1_ENST00000217957.5_Silent_p.T193T|VSIG1_ENST00000485533.1_3'UTR	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	193						integral to membrane		p.T229T(2)|p.T193T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						ACCCAACCACCGGGATTTTGG	0.428000													13	1774					0	0	1	0	0
BRI3BP	140707	broad.mit.edu	37	12	125478492	125478492	+	Silent	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:125478492C>A	ENST00000341446.8	+	1	247	c.156C>A	c.(154-156)acC>acA	p.T52T		NM_080626.5	NP_542193.3	Q8WY22	BRI3B_HUMAN	BRI3 binding protein	52						integral to membrane|mitochondrial outer membrane				large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		CGGTCAACACCTTCTCCCAGA	0.756000													2	3					6.4e-05	6.83212e-05	1	1	0
DMBT1	1755	broad.mit.edu	37	10	124380741	124380741	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:124380741C>T	ENST00000368909.3	+	41	5172	c.5066C>T	c.(5065-5067)gCc>gTc	p.A1689V	DMBT1_ENST00000368955.3_Missense_Mutation_p.A1679V|DMBT1_ENST00000330163.4_Missense_Mutation_p.A1061V|DMBT1_ENST00000368956.2_Missense_Mutation_p.A1061V|DMBT1_ENST00000344338.3_Missense_Mutation_p.A1679V|DMBT1_ENST00000338354.3_Missense_Mutation_p.A1689V|DMBT1_ENST00000359586.6_Intron	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1689	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCCATGTCGGCCCCAGGAAAT	0.607000													7	445					0	0	1	0	0
RWDD2B	10069	broad.mit.edu	37	21	30380563	30380563	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr21:30380563G>A	ENST00000493196.1	-	3	460	c.360C>T	c.(358-360)gtC>gtT	p.V120V	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	120	RWD.									endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						TAACGTACCTGACAGTAATTT	0.383000													4	166					0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	884125	884125	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:884125G>A	ENST00000323510.4	-	5	605	c.606C>T	c.(604-606)caC>caT	p.H202H	BRD9_ENST00000388890.4_Silent_p.H182H|BRD9_ENST00000435709.2_Silent_p.H182H|BRD9_ENST00000494422.1_Intron|BRD9_ENST00000483173.1_Silent_p.H245H|BRD9_ENST00000467963.1_Silent_p.H298H			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	298	Bromo.						nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GCGCCAGCACGTGCTCCTCTG	0.627000													4	374					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73071211	73071211	+	RNA	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:73071211G>A	ENST00000429829.1	-	0	1377					NR_001564.2																						ACCTTCAGCCGCCATCTTTTC	0.542000													4	177					0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207890965	207890965	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:207890965G>A	ENST00000508064.2	+	11	1631	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	524	Sushi 8.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACCATCCGCCGCACAAGTGAA	0.522000													4	459					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18069699	18069699	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:18069699G>A	ENST00000205890.5	+	61	10150	c.9812G>A	c.(9811-9813)cGc>cAc	p.R3271H	MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.R535H	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3271	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCACTCAGTCGCCGTGCTTAC	0.607000													11	1283					0	0	1	0	0
FAM120A	23196	broad.mit.edu	37	9	96291654	96291654	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:96291654C>A	ENST00000277165.6	+	9	1720	c.1526C>A	c.(1525-1527)gCc>gAc	p.A509D	FAM120A_ENST00000333936.5_Missense_Mutation_p.A537D|FAM120A_ENST00000375389.3_Missense_Mutation_p.A509D|FAM120A_ENST00000340893.4_Missense_Mutation_p.A509D	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	509						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCGTCCACTGCCTCTTCAGGA	0.532000													4	179					1	1	1	1	0
NUCB2	4925	broad.mit.edu	37	11	17351711	17351711	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:17351711T>C	ENST00000529010.1	+	12	1259	c.1040T>C	c.(1039-1041)cTa>cCa	p.L347P	NUCB2_ENST00000323688.6_Missense_Mutation_p.L347P|NUCB2_ENST00000458064.2_Missense_Mutation_p.L317P	NM_005013.2	NP_005004.1	P80303	NUCB2_HUMAN	nucleobindin 2	347	Binds to necdin (By similarity).					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding	p.L347P(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAGGAAGAACTAAAAGAATAT	0.308000													31	47					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43174057	43174057	+	Splice_Site	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:43174057A>T	ENST00000252050.4	+	26	5106		c.e26-1		CUL9_ENST00000372647.2_Splice_Site|CUL9_ENST00000354495.3_Splice_Site	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9						ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TCTGTCCCTCAGGAGGAAGAG	0.512000													5	223					0	0	1	0	0
SLC29A1	2030	broad.mit.edu	37	6	44197380	44197380	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:44197380C>A	ENST00000393841.1	+	5	657	c.166C>A	c.(166-168)Ctg>Atg	p.L56M	SLC29A1_ENST00000371724.1_Missense_Mutation_p.L56M|SLC29A1_ENST00000371755.3_Missense_Mutation_p.L56M|SLC29A1_ENST00000371708.1_Missense_Mutation_p.L56M|SLC29A1_ENST00000371713.1_Missense_Mutation_p.L56M|SLC29A1_ENST00000313248.7_Missense_Mutation_p.L135M|SLC29A1_ENST00000427851.2_Missense_Mutation_p.L56M|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371740.5_Missense_Mutation_p.L56M|SLC29A1_ENST00000371731.1_Missense_Mutation_p.L56M|SLC29A1_ENST00000393844.1_Missense_Mutation_p.L56M	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	56					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	CACTGCTGAACTGAGCAAGGA	0.552000													4	244					1	1	1	1	0
ILDR2	387597	broad.mit.edu	37	1	166891960	166891960	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:166891960A>G	ENST00000271417.3	-	8	1136	c.1081T>C	c.(1081-1083)Ttc>Ctc	p.F361L	ILDR2_ENST00000526687.1_Missense_Mutation_p.F253L|ILDR2_ENST00000469934.2_Missense_Mutation_p.F361L|ILDR2_ENST00000525740.1_Missense_Mutation_p.F234L|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.F342L|ILDR2_ENST00000528703.1_Missense_Mutation_p.F302L	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	361						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GACACAGGGAACTGCTTGCTT	0.532000													5	705					0	0	1	0	0
SLC39A10	57181	broad.mit.edu	37	2	196571342	196571342	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:196571342T>C	ENST00000409086.3	+	4	1494	c.1219T>C	c.(1219-1221)Tgg>Cgg	p.W407R	SLC39A10_ENST00000359634.5_Missense_Mutation_p.W407R|SLC39A10_ENST00000541054.1_5'UTR	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	407					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TTCTACAGCCTGGATTTGTGG	0.338000													3	121					0	0	1	0	0
VSIG2	23584	broad.mit.edu	37	11	124617504	124617504	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:124617504T>C	ENST00000326621.5	-	7	1011	c.911A>G	c.(910-912)aAg>aGg	p.K304R	NRGN_ENST00000526916.2_3'UTR	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	304						integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		CAGGAACCCCTTGCTAGAATC	0.562000													7	720					0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159176167	159176167	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:159176167G>A	ENST00000537147.1	+	3	1781	c.938G>A	c.(937-939)cGc>cAc	p.R313H	DARC_ENST00000368121.2_Missense_Mutation_p.R315H|DARC_ENST00000368122.2_Missense_Mutation_p.R313H			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	313					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CAGGCCACCCGCACCCTCTTG	0.582000													14	2419					0	0	1	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98643423	98643423	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:98643423A>T	ENST00000288985.7	+	2	657	c.352A>T	c.(352-354)Aaa>Taa	p.K118*	ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	118					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										TGTTGCTTTTAAATTATCTGA	0.338000													5	91					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100124679	100124679	+	Silent	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:100124679T>A	ENST00000375202.2	+	42	5342	c.3990T>A	c.(3988-3990)tcT>tcA	p.S1330S	CCDC180_ENST00000357054.1_Silent_p.S1264S|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Silent_p.S1330S					coiled-coil domain containing 180																		CAGAAAACTCTGGGAAGAAGG	0.607000													4	372					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100416207	100416207	+	Missense_Mutation	SNP	C	C	T	rs138234752	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100416207C>T	ENST00000358173.3	-	7	1825	c.1357G>A	c.(1357-1359)Gcc>Acc	p.A453T	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.A453T	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	453	Fibronectin type-III 2.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					ACAGCCCAGGCCAGGCTCAAG	0.627000													3	97					0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106208039	106208039	+	RNA	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:106208039A>G	ENST00000390548.2	-	0	763																											GCTGGGATAGAAGCCTTTGAC	0.622000													4	335					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14846003	14846003	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:14846003G>A	ENST00000380881.4	-	9	2166	c.1351C>T	c.(1351-1353)Cta>Tta	p.L451L	FREM1_ENST00000380880.3_Silent_p.L450L|FREM1_ENST00000422223.2_Silent_p.L450L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	450					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.L451L(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ACGGTGACTAGCCGGACAGCA	0.473000													30	32					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209828	140209828	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:140209828T>C	ENST00000529310.1	+	1	2266	c.2152T>C	c.(2152-2154)Tac>Cac	p.Y718H	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.Y718H(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACTGCTGTACACAGCGCT	0.692000													21	46					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28543670	28543670	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:28543670C>T	ENST00000452236.2	-	3	1429	c.812G>A	c.(811-813)cGt>cAt	p.R271H		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	271					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AGCCAAGCGACGGTAGTCAAC	0.353000													7	188					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9878128	9878128	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:9878128G>A	ENST00000256190.8	-	19	2377	c.2240C>T	c.(2239-2241)gCc>gTc	p.A747V	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	747					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AAAGTGAATGGCCTGACTAAA	0.507000													12	714					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41597544	41597544	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:41597544C>T	ENST00000262415.3	+	19	2918	c.2846C>T	c.(2845-2847)cCa>cTa	p.P949L	DHX8_ENST00000540306.1_Missense_Mutation_p.P949L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	949						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ATGGATGCCCCACCTATGGAA	0.542000											OREG0024435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	416					0	0	1	0	0
NEK1	4750	broad.mit.edu	37	4	170523663	170523663	+	Splice_Site	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:170523663A>G	ENST00000439128.2	-	2	758		c.e2+1		NEK1_ENST00000510533.1_Splice_Site|NEK1_ENST00000512193.1_Splice_Site|NEK1_ENST00000507142.1_Splice_Site|NEK1_ENST00000511633.1_Splice_Site	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1						cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		AAATATACTTACTCTTGAGAT	0.299000													3	62					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23888811	23888811	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:23888811A>G	ENST00000355349.3	-	28	3896	c.3734T>C	c.(3733-3735)cTg>cCg	p.L1245P		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1245					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATCTTCTCCAGGTTAGCCTG	0.562000													9	769					0	0	1	0	0
ZNF546	339327	broad.mit.edu	37	19	40520041	40520041	+	Silent	SNP	T	T	A	rs145892364		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:40520041T>A	ENST00000347077.4	+	7	1080	c.864T>A	c.(862-864)ctT>ctA	p.L288L	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Silent_p.L262L	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ATTATCACCTTACTGAACATC	0.438000													6	304					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72412153	72412153	+	Silent	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:72412153T>C	ENST00000340595.3	+	16	2593	c.2397T>C	c.(2395-2397)gcT>gcC	p.A799A	SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000425175.1_Silent_p.A843A|SLC4A4_ENST00000264485.5_Silent_p.A843A	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	843				Q -> R (in Ref. 4; AAG47773).		basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GGTATGTAGCTGCTACGGTCA	0.473000													5	303					0	0	1	0	0
AGO4	192670	broad.mit.edu	37	1	36316462	36316462	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:36316462G>A	ENST00000373210.3	+	17	2530	c.2285G>A	c.(2284-2286)aGc>aAc	p.S762N	AGO4_ENST00000488778.1_3'UTR	NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		CAGGGAACCAGCCGTCCCTCA	0.403000													4	359					0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146824346	146824346	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:146824346G>A	ENST00000508784.1	-	2	292	c.65C>T	c.(64-66)gCg>gTg	p.A22V	ZNF827_ENST00000379448.4_Missense_Mutation_p.A22V|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	22					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CTCTCCCTCCGCCTCTTCCTG	0.453000													6	350					0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89068354	89068354	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:89068354G>A	ENST00000251038.5	+	11	1666	c.1441G>A	c.(1441-1443)Gca>Aca	p.A481T	ZC3H14_ENST00000555900.1_Missense_Mutation_p.A183T|ZC3H14_ENST00000318308.6_Intron|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000555755.1_Missense_Mutation_p.A481T|ZC3H14_ENST00000393514.5_Missense_Mutation_p.A456T|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000336693.4_Intron	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	481						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						AGTAGTAGTGGCACCAAACCA	0.438000													7	844					0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18891720	18891720	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:18891720G>A	ENST00000388995.6	-	3	753	c.530C>T	c.(529-531)gCt>gTt	p.A177V	SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.A177V|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.A177V|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	177										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CATGACCACAGCTATCACCTG	0.587000													4	361					0	0	1	0	0
NOXA1	10811	broad.mit.edu	37	9	140323382	140323382	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:140323382G>T	ENST00000341349.2	+	4	598	c.418G>T	c.(418-420)Gag>Tag	p.E140*	NOXA1_ENST00000392815.2_Nonsense_Mutation_p.E140*	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	140	Mediates interaction with RAC1.				regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		GCTCTGGACAGAGGCGGCCAG	0.667000													2	0					2.56e-06	2.77333e-06	1	1	0
SLC1A3	6507	broad.mit.edu	37	5	36686317	36686317	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:36686317G>A	ENST00000265113.4	+	10	2051	c.1575G>A	c.(1573-1575)ctG>ctA	p.L525L	SLC1A3_ENST00000381918.3_Silent_p.L480L|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	525					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)	CATATCAACTGATTGCACAGG	0.393000													7	464					0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47870598	47870598	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:47870598G>A	ENST00000446256.2	+	7	795	c.223G>A	c.(223-225)Gca>Aca	p.A75T	DHX30_ENST00000348968.4_Missense_Mutation_p.A86T|DHX30_ENST00000457607.1_Missense_Mutation_p.A142T|DHX30_ENST00000445061.1_Missense_Mutation_p.A114T	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	114	DRBM.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GCGGCAGGCTGCAGCTGCAGC	0.527000													3	18					0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107434873	107434873	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:107434873T>C	ENST00000340010.5	-	2	266	c.82A>G	c.(82-84)Aca>Gca	p.T28A	SLC26A3_ENST00000422236.2_Silent_p.R9R	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	28					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TGTCTTCCTGTCTTTTTATGA	0.343000													5	453					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64669525	64669525	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:64669525T>C	ENST00000421419.2	-	29	4148	c.4034A>G	c.(4033-4035)gAg>gGg	p.E1345G	ATG2A_ENST00000377264.3_Missense_Mutation_p.E1343G			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1343							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ATCTTCCTTCTCCTCTGAGCA	0.617000													3	70					0	0	1	0	0
RSRC2	65117	broad.mit.edu	37	12	123006692	123006692	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:123006692G>A	ENST00000331738.7	-	2	306	c.161C>T	c.(160-162)tCa>tTa	p.S54L	RSRC2_ENST00000354654.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	54	Ser-rich.									breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		ATTCATACCTGACTTTCGTTT	0.358000													3	75					0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89104958	89104958	+	RNA	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:89104958A>G	ENST00000393525.3	+	0	4898																											AATTCAAATCATTGATTTCTG	0.289000													3	5					0	0	1	0	0
SOX10	6663	broad.mit.edu	37	22	38373927	38373927	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:38373927C>T	ENST00000396884.2	-	3	926	c.644G>A	c.(643-645)cGg>cAg	p.R215Q	SOX10_ENST00000360880.2_Missense_Mutation_p.R215Q|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000407936.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	215						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					TCCTGGGTGCCGGTGGTCCAA	0.692000													6	351					0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58206970	58206970	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:58206970T>A	ENST00000302572.2	-	1	676	c.655A>T	c.(655-657)Ata>Tta	p.I219L		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTGATAAATATAAATAAGTAG	0.408000													5	259					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201777164	201777164	+	Silent	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:201777164T>A	ENST00000367296.4	+	18	4152	c.3732T>A	c.(3730-3732)gcT>gcA	p.A1244A	NAV1_ENST00000367295.1_Silent_p.A850A|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Silent_p.A1184A|NAV1_ENST00000367302.1_Silent_p.A1197A|NAV1_ENST00000295624.6_Silent_p.A1241A|NAV1_ENST00000367297.4_Silent_p.A1236A	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1244					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						AGGAGATTGCTACACCCGACT	0.502000													25	284					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27419897	27419897	+	Silent	SNP	T	T	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:27419897T>G	ENST00000527372.1	-	33	5229	c.5049A>C	c.(5047-5049)cgA>cgC	p.R1683R	MYO18A_ENST00000354329.4_Silent_p.R1683R|MYO18A_ENST00000531253.1_Silent_p.R1683R|MYO18A_ENST00000533112.1_Silent_p.R1646R	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1683					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GGGCAATCTCTCGCTTGCTGG	0.572000													5	887					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7805978	7805978	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:7805978C>A	ENST00000380358.4	+	21	3481	c.3480C>A	c.(3478-3480)taC>taA	p.Y1160*	CHD3_ENST00000330494.7_Nonsense_Mutation_p.Y1101*|CHD3_ENST00000358181.4_Nonsense_Mutation_p.Y1101*	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1101	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	p.Y1101*(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ATGAAGGCTACAAGTATGAGC	0.502000													48	1449					2.68265e-12	2.95546e-12	1	1	0
OR51B5	282763	broad.mit.edu	37	11	5364136	5364136	+	Silent	SNP	G	G	A	rs140365125		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:5364136G>A	ENST00000300773.2	-	1	673	c.619C>T	c.(619-621)Ctg>Ttg	p.L207L	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATAATCCAGCACAAATATA	0.463000													4	294					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109694958	109694958	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:109694958G>A	ENST00000465301.2	+	3	1359	c.1113G>A	c.(1111-1113)gcG>gcA	p.A371A	RGAG1_ENST00000540313.1_Silent_p.A371A	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	371								p.A371A(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GCTCTGGGGCGATGTCCCCAT	0.557000													8	963					0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	17992783	17992783	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:17992783G>A	ENST00000222248.3	+	9	1420	c.1073G>A	c.(1072-1074)aGc>aAc	p.S358N		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	358					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GCATCCACCAGCATCAATGCT	0.587000													3	99					0	0	1	0	0
FUK	197258	broad.mit.edu	37	16	70500809	70500809	+	Missense_Mutation	SNP	G	G	A	rs17881323	by1000genomes	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:70500809G>A	ENST00000288078.6	+	6	668	c.436G>A	c.(436-438)Gtg>Atg	p.V146M	FUK_ENST00000378912.2_Missense_Mutation_p.V178M|FUK_ENST00000571514.1_Intron|FUK_ENST00000428974.2_Missense_Mutation_p.V129M	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	146			V -> M (in dbSNP:rs17881323).			cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CCCGCCAGGCGTGTGGGTCTG	0.637000													9	77					0	0	1	0	0
ARPC2	10109	broad.mit.edu	37	2	219099073	219099073	+	Splice_Site	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:219099073A>T	ENST00000295685.10	+	4	483		c.e4-1		ARPC2_ENST00000315717.5_Splice_Site	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa						cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TTTATTTTCTAGTTATTAAAG	0.363000													6	243					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004165	74004165	+	Silent	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:74004165G>T	ENST00000301607.3	-	22	5374	c.5121C>A	c.(5119-5121)atC>atA	p.I1707I	EVPL_ENST00000586740.1_Silent_p.I1729I	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1707	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCCTGTCGATGATGCCCCTCT	0.617000													5	496					0.000602214	0.000637062	1	1	0
ARHGEF10	9639	broad.mit.edu	37	8	1857559	1857559	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:1857559C>G	ENST00000518288.1	+	19	2301	c.2138C>G	c.(2137-2139)gCa>gGa	p.A713G	ARHGEF10_ENST00000262112.6_Missense_Mutation_p.A714G|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.A689G|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.A714G|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.A651G			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	714					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GGCAGCAGCGCAGGCACGGGC	0.602000													4	280					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63137720	63137720	+	Silent	SNP	T	T	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:63137720T>G	ENST00000279178.3	+	1	441	c.192T>G	c.(190-192)acT>acG	p.T64T	SLC22A9_ENST00000310969.4_Silent_p.T64T	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	64					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ACAATGACACTGGGGCCCTCA	0.512000													7	451					0	0	1	0	0
SNX13	23161	broad.mit.edu	37	7	17833769	17833769	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:17833769A>G	ENST00000428135.3	-	26	2972	c.2774T>C	c.(2773-2775)tTc>tCc	p.F925S	SNX13_ENST00000409389.1_3'UTR|SNX13_ENST00000496855.1_5'UTR	NM_015132.4	NP_055947.1	Q9Y5W8	SNX13_HUMAN	sorting nexin 13	936					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	p.F925S(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AAGTTCACGGAATTTATACTG	0.358000													42	20					0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25917879	25917879	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:25917879C>T	ENST00000398988.3	+	8	1123	c.678C>T	c.(676-678)tgC>tgT	p.C226C	KSR1_ENST00000581975.1_3'UTR|KSR1_ENST00000509603.2_Silent_p.C363C|KSR1_ENST00000319524.6_Silent_p.C363C|KSR1_ENST00000268763.6_Silent_p.C226C	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	361					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCCACGTGTGCCAGAAGAGCA	0.557000													4	334					0	0	1	0	0
SCLY	51540	broad.mit.edu	37	2	238999888	238999888	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:238999888T>C	ENST00000254663.6	+	8	1080	c.938T>C	c.(937-939)cTt>cCt	p.L313P	SCLY_ENST00000429612.2_Intron|SCLY_ENST00000373332.3_Missense_Mutation_p.L223P|SCLY_ENST00000422984.2_Missense_Mutation_p.L211P|SCLY_ENST00000555827.1_Missense_Mutation_p.L305P|SCLY_ENST00000409736.2_Missense_Mutation_p.L305P	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	305					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		ATTGCTGGCCTTGGGAAGGTG	0.478000													6	448					0	0	1	0	0
EIF2B3	8891	broad.mit.edu	37	1	45407191	45407191	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:45407191C>T	ENST00000360403.2	-	4	567	c.441G>A	c.(439-441)ggG>ggA	p.G147G	EIF2B3_ENST00000480675.1_5'UTR|EIF2B3_ENST00000372183.3_Silent_p.G147G	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	147					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					CTTTTTTTTTCCCCTTTTGAC	0.368000													6	200					0	0	1	0	0
GOLIM4	27333	broad.mit.edu	37	3	167747822	167747822	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:167747822C>T	ENST00000470487.1	-	10	1868	c.1179G>A	c.(1177-1179)gtG>gtA	p.V393V	GOLIM4_ENST00000309027.4_Silent_p.V365V	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	393	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						CTGAAGGGTACACCTAGGGTG	0.517000													78	579					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58589212	58589212	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:58589212G>C	ENST00000317147.5	-	21	3166	c.2834C>G	c.(2833-2835)cCt>cGt	p.P945R	CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000569240.1_Missense_Mutation_p.P940R|CNOT1_ENST00000441024.2_Missense_Mutation_p.P945R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	945					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.P945R(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GGATCCAAAAGGCTTGCGTAA	0.428000													79	224					0	0	1	0	0
IGLV2-18	28814	broad.mit.edu	37	22	23077568	23077568	+	RNA	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:23077568C>T	ENST00000390310.2	+	0	358																											ATACAAGCAGCAGCACTTTCC	0.572000													5	299					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	41961522	41961522	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:41961522C>G	ENST00000219905.7	+	2	611	c.430C>G	c.(430-432)Cct>Gct	p.P144A	MGA_ENST00000568630.1_Intron|MGA_ENST00000389936.4_Missense_Mutation_p.P144A|MGA_ENST00000566586.1_Missense_Mutation_p.P144A|MGA_ENST00000570161.1_Missense_Mutation_p.P144A|MGA_ENST00000545763.1_Missense_Mutation_p.P144A	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	144						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TTGGTGGGAACCTAGTGGGAA	0.403000													6	851					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6754991	6754991	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:6754991G>A	ENST00000230859.6	+	13	1691	c.1562G>A	c.(1561-1563)cGc>cAc	p.R521H		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	521					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CAGTATAACCGCACCGGCTGG	0.642000													5	138					0	0	1	0	0
PAXIP1	22976	broad.mit.edu	37	7	154738246	154738246	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:154738246G>A	ENST00000404141.1	-	19	3263	c.3109C>T	c.(3109-3111)Cga>Tga	p.R1037*	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Nonsense_Mutation_p.R1037*			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	1037	BRCT 6.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		AAATATTCTCGGCATAAATGA	0.408000													6	194					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60687749	60687749	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:60687749G>A	ENST00000335712.6	-	4	2525	c.2298C>T	c.(2296-2298)ggC>ggT	p.G766G	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000358510.4_Silent_p.G732G|BCL11A_ENST00000356842.4_Intron|BCL11A_ENST00000538214.1_Silent_p.G732G	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	766					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AAGGCCTTTCGCCCGTGTGGC	0.532000			T	IGH@	B-CLL								8	191					0	0	1	0	0
RBM28	55131	broad.mit.edu	37	7	127965927	127965927	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:127965927A>C	ENST00000223073.1	-	11	1261	c.1147T>G	c.(1147-1149)Ttc>Gtc	p.F383V	RBM28_ENST00000415472.2_Missense_Mutation_p.F242V	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	383	RRM 3.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	p.F383V(1)		breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TGAGTCATGAACTGGGCAAAT	0.443000													128	139					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50947024	50947024	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:50947024C>T	ENST00000357701.5	+	11	1135	c.1084C>T	c.(1084-1086)Cgg>Tgg	p.R362W		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	362	Ig-like C2-type 3.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TGTGGGTGACCGGGTGGAAAT	0.552000													6	798					0	0	1	0	0
P2RY1	5028	broad.mit.edu	37	3	152554482	152554482	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:152554482C>T	ENST00000305097.3	+	1	1747	c.911C>T	c.(910-912)gCc>gTc	p.A304V		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	304					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AGGGTTTATGCCACGTATCAG	0.478000													5	180					0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8390885	8390885	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:8390885G>A	ENST00000471889.1	+	5	1717	c.1332G>A	c.(1330-1332)aaG>aaA	p.K444K	SLC45A1_ENST00000289877.8_Silent_p.K444K|SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Silent_p.K478K			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	444					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		ACACCTCTAAGCCGAGGTCAT	0.622000													3	86					0	0	1	0	0
HEXIM1	10614	broad.mit.edu	37	17	43227150	43227150	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:43227150A>T	ENST00000332499.2	+	1	2467	c.593A>T	c.(592-594)cAg>cTg	p.Q198L		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	198					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCCAAGGGCCAGCCGGTCGCG	0.577000											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	138					0	0	1	0	0
SCARNA2	677766	broad.mit.edu	37	1	109642843	109642843	+	RNA	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:109642843C>A	ENST00000458748.1	+	0	29					NR_003023.1																						GGCCTGGGTCCTGGGTGTTGT	0.647000													23	28					3.28513e-13	3.62604e-13	1	1	0
MYO10	4651	broad.mit.edu	37	5	16672852	16672852	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:16672852T>C	ENST00000513610.1	-	37	5709	c.5255A>G	c.(5254-5256)gAc>gGc	p.D1752G	MYO10_ENST00000515803.1_Missense_Mutation_p.D1091G|MYO10_ENST00000505695.1_Missense_Mutation_p.D1091G|MYO10_ENST00000274203.9_Missense_Mutation_p.D1109G|MYO10_ENST00000427430.2_Missense_Mutation_p.D1109G	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1752	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AATGGCTTTGTCGACGTGGCC	0.483000													3	95					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201046093	201046093	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:201046093G>A	ENST00000362061.3	-	12	2008	c.1782C>T	c.(1780-1782)cgC>cgT	p.R594R	CACNA1S_ENST00000367338.3_Silent_p.R594R	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	594					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)	CAAAGTTGCTGCGCCGTACTT	0.557000													8	948					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176317826	176317826	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:176317826G>A	ENST00000292432.5	-	5	622	c.531C>T	c.(529-531)gaC>gaT	p.D177D		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	177	Glucose-binding (Potential).|Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	p.D177D(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCTCACCCTGTCCAAGCCCG	0.597000													7	130					0	0	1	0	0
AP5M1	55745	broad.mit.edu	37	14	57741171	57741171	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:57741171C>T	ENST00000261558.3	+	2	690	c.284C>T	c.(283-285)cCa>cTa	p.P95L	AP5M1_ENST00000431972.2_Missense_Mutation_p.P109L	NM_018229.3	NP_060699.3	Q9H0R1	MUDEN_HUMAN	adaptor-related protein complex 5, mu 1 subunit	95					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex											GAACTCTGGCCAGTTGTTGCT	0.423000													4	51					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37128142	37128142	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:37128142G>A	ENST00000262879.6	+	5	890	c.606G>A	c.(604-606)gtG>gtA	p.V202V	RALGAPB_ENST00000397042.3_Silent_p.V202V|RALGAPB_ENST00000537204.1_Silent_p.V202V|RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000397040.1_Silent_p.V202V			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	202					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCTTTGAGGTGTGGTTACTAG	0.453000													23	822					0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47098519	47098519	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:47098519G>A	ENST00000377107.2	+	2	581	c.227G>A	c.(226-228)gGa>gAa	p.G76E	USP11_ENST00000218348.3_Missense_Mutation_p.G119E			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	119	DUSP.				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						TACGTGCAGGGAGGGGACCAG	0.557000													13	132					0	0	1	0	0
FKBP9L	360132	broad.mit.edu	37	7	55755682	55755682	+	RNA	SNP	G	G	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:55755682G>C	ENST00000455909.1	-	0	389					NR_027340.1|NR_027342.1				FK506 binding protein 9-like											endometrium(1)|kidney(1)|lung(3)	5						GTGTTCCTAtgagaagaacac	0.413000													123	275					0	0	1	0	0
PEPD	5184	broad.mit.edu	37	19	33904523	33904523	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:33904523C>T	ENST00000244137.6	-	10	731	c.698G>A	c.(697-699)cGg>cAg	p.R233Q	PEPD_ENST00000436370.3_Missense_Mutation_p.R169Q|PEPD_ENST00000397032.4_Missense_Mutation_p.R192Q	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	233					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					CATGCCGCCCCGGGAGTAGCA	0.667000													2	5					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178494151	178494151	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:178494151T>C	ENST00000286063.5	-	20	3103	c.2786A>G	c.(2785-2787)aAg>aGg	p.K929R	PDE11A_ENST00000409504.1_Missense_Mutation_p.K571R|PDE11A_ENST00000450799.2_Missense_Mutation_p.K120R|PDE11A_ENST00000358450.4_Missense_Mutation_p.K679R|PDE11A_ENST00000389683.3_Missense_Mutation_p.K485R|PDE11A_ENST00000449286.2_Missense_Mutation_p.K571R	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	929					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CCTGTCTTCCTTGGCTACCAT	0.478000									Primary Pigmented Nodular Adrenocortical Disease, Familial				5	296					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72831119	72831119	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:72831119G>A	ENST00000268489.5	-	9	6134	c.5462C>T	c.(5461-5463)gCa>gTa	p.A1821V	ZFHX3_ENST00000397992.5_Missense_Mutation_p.A907V	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1821					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)				CAGTGTCAGTGCCCCACTGGT	0.592000													7	747					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7402776	7402776	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:7402776G>A	ENST00000322644.6	+	10	2036	c.1637G>A	c.(1636-1638)cGc>cAc	p.R546H	POLR2A_ENST00000572844.1_Missense_Mutation_p.R546H	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	546					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACAGCAGTGCGCAAATTCACC	0.577000													4	246					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139828797	139828797	+	Splice_Site	SNP	C	C	T	rs138219375	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:139828797C>T	ENST00000297183.6	+	7	1273	c.1147_splice	c.e7-1	p.G383_splice	ANKHD1_ENST00000360839.2_Splice_Site_p.G383_splice|ANKHD1_ENST00000394722.3_Splice_Site_p.G372_splice|ANKHD1_ENST00000394723.3_Splice_Site_p.G383_splice|ANKHD1-EIF4EBP3_ENST00000532219.1_Splice_Site_p.G383_splice	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTTCAAGGCCATTTGGATA	0.343000													3	32					0	0	1	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13400102	13400102	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:13400102G>A	ENST00000284110.1	-	2	1430	c.633C>T	c.(631-633)atC>atT	p.I211I	HS3ST3A1_ENST00000578576.1_Silent_p.I9I	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	211						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCTCCATGGTGATCTGCCCGT	0.602000													11	572					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105185083	105185083	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:105185083G>A	ENST00000369797.3	+	20	3200	c.3106G>A	c.(3106-3108)Ggg>Agg	p.G1036R		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1036	S1 motif 9.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CCTCTCCATCGGGGACATGGT	0.512000													11	375					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158632529	158632529	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:158632529G>C	ENST00000368148.3	-	17	2607	c.2427C>G	c.(2425-2427)atC>atG	p.I809M	SPTA1_ENST00000368147.3_Missense_Mutation_p.I809M	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	809			I -> V (in dbSNP:rs7547313).		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGTCTCTTGGATCCAGGCCT	0.502000													5	661					0	0	1	0	0
WWC2	80014	broad.mit.edu	37	4	184233572	184233572	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:184233572C>T	ENST00000403733.3	+	22	3662	c.3463C>T	c.(3463-3465)Cgg>Tgg	p.R1155W	WWC2_ENST00000448232.2_Missense_Mutation_p.R1179W|WWC2_ENST00000508747.1_Missense_Mutation_p.R283W|WWC2_ENST00000513834.1_Missense_Mutation_p.R1106W|WWC2_ENST00000504005.1_Missense_Mutation_p.R837W	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	1155										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GGACGTGTGTCGGCTCCGGGA	0.537000													5	178					0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	77059426	77059426	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:77059426T>A	ENST00000538941.2	-	11	1453	c.514A>T	c.(514-516)Atg>Ttg	p.M172L	SCAPER_ENST00000324767.7_Missense_Mutation_p.M418L|SCAPER_ENST00000563290.1_Missense_Mutation_p.M418L	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	417						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ACTTCTGCCATGGACTATAAA	0.338000													2	6					0	0	1	0	0
GPR182	11318	broad.mit.edu	37	12	57389178	57389178	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:57389178C>T	ENST00000300098.1	+	2	404	c.185C>T	c.(184-186)gCc>gTc	p.A62V		NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	62						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CTCTACCTGGCCATGTTTGTG	0.587000													10	1167					0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118778210	118778210	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:118778210G>T	ENST00000334801.3	-	3	1478	c.514C>A	c.(514-516)Ccc>Acc	p.P172T	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	172					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCCCCAATGGGCTTGTCGTCC	0.632000											OREG0021388	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	676					0.0215528	0.022395	1	1	0
CELF2	10659	broad.mit.edu	37	10	11317066	11317066	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:11317066G>A	ENST00000379261.4	+	8	895	c.803G>A	c.(802-804)gGc>gAc	p.G268D	CELF2_ENST00000416382.2_Missense_Mutation_p.G268D|CELF2_ENST00000542579.1_Missense_Mutation_p.G275D|CELF2_ENST00000427450.1_Missense_Mutation_p.G244D|CELF2_ENST00000354440.2_Missense_Mutation_p.G244D|CELF2_ENST00000399850.3_Missense_Mutation_p.G244D|CELF2_ENST00000537122.1_Missense_Mutation_p.G157D|CELF2_ENST00000354897.3_Missense_Mutation_p.G244D|CELF2_ENST00000315874.3_Missense_Mutation_p.G244D|CELF2_ENST00000417956.2_Missense_Mutation_p.G244D|CELF2_ENST00000450189.1_Missense_Mutation_p.G275D	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	268	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						GCGTTCAGCGGCATTCAACAA	0.547000													6	804					0	0	1	0	0
NUP85	79902	broad.mit.edu	37	17	73231693	73231693	+	Silent	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:73231693C>A	ENST00000245544.4	+	19	1961	c.1890C>A	c.(1888-1890)acC>acA	p.T630T	NUP85_ENST00000579324.1_Silent_p.T518T|NUP85_ENST00000447371.2_3'UTR|NUP85_ENST00000541827.1_Silent_p.T584T|NUP85_ENST00000540768.1_Silent_p.T233T|NUP85_ENST00000579298.1_Silent_p.T585T	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	630					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			TAGAGACCACCAAGGTGGAAA	0.493000													4	326					0.248553	0.254201	1	1	0
ALG6	29929	broad.mit.edu	37	1	63876912	63876912	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:63876912T>A	ENST00000371108.4	+	8	895	c.590T>A	c.(589-591)aTa>aAa	p.I197K	ALG6_ENST00000263440.4_Missense_Mutation_p.I199K	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	197					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TGCTTAGCTATAAATTATAAA	0.398000													6	423					0	0	1	0	0
NSDHL	50814	broad.mit.edu	37	X	152018854	152018854	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:152018854C>T	ENST00000370274.3	+	3	348	c.154C>T	c.(154-156)Cac>Tac	p.H52Y	NSDHL_ENST00000440023.1_Missense_Mutation_p.H52Y	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	52					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CCTGGGGCAGCACATGGTGGA	0.532000													11	520					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72877314	72877314	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:72877314C>A	ENST00000339594.4	-	12	3525	c.3187G>T	c.(3187-3189)Gca>Tca	p.A1063S	BAZ1B_ENST00000404251.1_Missense_Mutation_p.A1063S	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1063					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				AACCTTGTTGCAACTTCAATG	0.403000													17	468					0.000422831	0.000448923	1	1	0
FGF7	2252	broad.mit.edu	37	15	49776572	49776572	+	Silent	SNP	A	A	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:49776572A>C	ENST00000267843.4	+	4	1067	c.456A>C	c.(454-456)gcA>gcC	p.A152A	FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560704.1_3'UTR	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	152					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	p.A152A(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	ACACATATGCATCAGCTAAAT	0.338000													3	74					0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102160008	102160008	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:102160008C>T	ENST00000299314.7	-	12	1735	c.1473G>A	c.(1471-1473)caG>caA	p.Q491Q		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	491	Gly-rich.				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						ACTGCCAGGGCTGTCCAACTC	0.493000													4	452					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207751292	207751292	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:207751292G>A	ENST00000367049.4	+	29	4680	c.4680G>A	c.(4678-4680)gaG>gaA	p.E1560E	CR1_ENST00000367053.1_Silent_p.E1110E|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Silent_p.E1110E|CR1_ENST00000400960.2_Silent_p.E1110E|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Silent_p.E1110E	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1110	Sushi 24.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTGTGGGTGAGCCCTCCATAT	0.512000													7	578					0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14711388	14711388	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:14711388T>C	ENST00000284268.6	-	12	1727	c.1397A>G	c.(1396-1398)gAg>gGg	p.E466G	ANKH_ENST00000535119.1_Missense_Mutation_p.E268G	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	466					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GTCTTCCCCCTCCGTGGCCGA	0.547000													8	1282					0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219029724	219029724	+	Missense_Mutation	SNP	G	G	A	rs1805038	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:219029724G>A	ENST00000295683.2	-	2	331	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	71			R -> C (in dbSNP:rs1805038).		dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						GTGACGGAGCGGCCGACCCTG	0.567000													12	1321					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43836661	43836661	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:43836661G>A	ENST00000372781.3	+	2	780	c.723G>A	c.(721-723)gcG>gcA	p.A241A	SEMG1_ENST00000244069.6_Silent_p.A241A	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TCTGTCCTGCGCACCAAGACA	0.378000													6	282					0	0	1	0	0
ODF4	146852	broad.mit.edu	37	17	8243508	8243508	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:8243508T>C	ENST00000328248.2	+	1	327	c.139T>C	c.(139-141)Tcc>Ccc	p.S47P	ODF4_ENST00000584943.1_Intron	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	47					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						GAGACTGCTGTCCTCCACCCT	0.567000													5	269					0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203329534	203329534	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:203329534T>C	ENST00000374580.4	+	2	618	c.79T>C	c.(79-81)Tcg>Ccg	p.S27P	BMPR2_ENST00000374574.2_Missense_Mutation_p.S27P	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	27					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TATTTTAGCTTCGCAGAATCA	0.318000													4	147					0	0	1	0	0
DCAF4	26094	broad.mit.edu	37	14	73420870	73420870	+	Splice_Site	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:73420870A>G	ENST00000553457.1	+	9	798		c.e9-1		DCAF4_ENST00000509153.1_Splice_Site_p.A209_splice|DCAF4_ENST00000394234.2_Splice_Site|DCAF4_ENST00000358377.2_Splice_Site|DCAF4_ENST00000353777.3_Intron|DCAF4_ENST00000555042.1_Splice_Site_p.A270_splice			Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4							CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						TCCCCTTAGCAGGAATAGACC	0.537000													13	933					0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49772609	49772609	+	Silent	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:49772609T>C	ENST00000492622.2	+	23	3191	c.2886T>C	c.(2884-2886)ttT>ttC	p.F962F	FNDC3A_ENST00000541916.1_Silent_p.F962F|FNDC3A_ENST00000398316.3_Silent_p.F906F	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	962	Fibronectin type-III 8.					Golgi membrane|integral to membrane		p.F962F(1)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GTGTTGCCTTTAGCCACCAGA	0.448000													8	716					0	0	1	0	0
LCP1	3936	broad.mit.edu	37	13	46701809	46701809	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:46701809G>A	ENST00000398576.2	-	19	2189	c.1801C>T	c.(1801-1803)Cca>Tca	p.P601S	LCP1_ENST00000435666.2_Missense_Mutation_p.P170S|LCP1_ENST00000323076.2_Missense_Mutation_p.P601S			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	601	Actin-binding 2.|CH 4.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		AGGTCTTCTGGCAGGGCATAC	0.498000			T	BCL6	NHL								9	1259					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86019572	86019572	+	Silent	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:86019572G>T	ENST00000360375.3	+	1	191	c.42G>T	c.(40-42)gtG>gtT	p.V14V		NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	14					cell division|mitosis	centriole|nucleus		p.V14V(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						aggcggAAGTGGAAAACGAAG	0.667000													10	12					4.36969e-10	4.78702e-10	1	1	0
ATP10D	57205	broad.mit.edu	37	4	47538567	47538567	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:47538567A>C	ENST00000273859.3	+	8	1398	c.1129A>C	c.(1129-1131)Atc>Ctc	p.I377L	ATP10D_ENST00000504445.1_Missense_Mutation_p.I377L	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	377					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTGGACCATGATCATTTTGTT	0.353000													5	156					0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52966401	52966401	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:52966401C>T	ENST00000549343.1	-	2	560	c.522G>A	c.(520-522)ctG>ctA	p.L174L	KRT74_ENST00000305620.2_Silent_p.L174L			Q7RTS7	K2C74_HUMAN	keratin 74	174	Coil 1A.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GCTGCTGCAGCAGCTCCCACT	0.552000													4	184					0	0	1	0	0
IGKV1-16	28938	broad.mit.edu	37	2	89399455	89399455	+	RNA	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:89399455T>C	ENST00000479981.1	-	0	274																											GCCGCTGAACTTTGATGGGAC	0.468000													38	681					0	0	1	0	0
FDFT1	2222	broad.mit.edu	37	8	11689141	11689141	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:11689141C>A	ENST00000220584.4	+	7	1216	c.994C>A	c.(994-996)Cca>Aca	p.P332T	FDFT1_ENST00000528643.1_Missense_Mutation_p.P247T|FDFT1_ENST00000528812.1_Missense_Mutation_p.P268T|FDFT1_ENST00000443614.2_Missense_Mutation_p.P289T|FDFT1_ENST00000525900.1_Missense_Mutation_p.P325T|FDFT1_ENST00000525777.1_Missense_Mutation_p.P247T|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000538689.1_Missense_Mutation_p.P221T|FDFT1_ENST00000530664.1_Missense_Mutation_p.P268T	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	332					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		CACCAATATGCCAGCTGTCAA	0.408000													34	615					2.51541e-25	2.79756e-25	1	1	0
GGA2	23062	broad.mit.edu	37	16	23480293	23480293	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:23480293C>T	ENST00000309859.4	-	16	1727	c.1645G>A	c.(1645-1647)Gca>Aca	p.A549T	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	549	GAE.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		GAGCTGGATGCCGGCTGCAGC	0.493000													4	238					0	0	1	0	0
CETN1	1068	broad.mit.edu	37	18	580860	580860	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr18:580860G>A	ENST00000327228.3	+	1	494	c.452G>A	c.(451-453)cGg>cAg	p.R151Q		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	151	EF-hand 4.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GAAGCTGATCGGGATGGGGAC	0.542000													6	197					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175240	51175240	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:51175240C>G	ENST00000440970.1	-	2	1033	c.602G>C	c.(601-603)gGa>gCa	p.G201A	SALL1_ENST00000251020.4_Missense_Mutation_p.G298A|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	298					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTGTGCCAATCCAGCTGCTGC	0.517000													10	392					0	0	1	0	0
NCK1	4690	broad.mit.edu	37	3	136664749	136664749	+	Missense_Mutation	SNP	A	A	G	rs145545353	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:136664749A>G	ENST00000469404.1	+	2	450	c.359A>G	c.(358-360)aAt>aGt	p.N120S	NCK1_ENST00000481752.1_Missense_Mutation_p.N184S|NCK1_ENST00000288986.2_Missense_Mutation_p.N184S	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN	NCK adaptor protein 1	184	SH3 2.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						GCAGTCGTCAATAACCTAAAT	0.423000													5	469					0	0	1	0	0
VDAC1P8	100310840	broad.mit.edu	37	6	143811741	143811741	+	RNA	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:143811741T>A	ENST00000591892.1	+	0	270																											TAAAACCTGATTTGAAAACAA	0.433000													7	11					0	0	1	0	0
PLBD2	196463	broad.mit.edu	37	12	113824827	113824827	+	Silent	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:113824827C>A	ENST00000280800.3	+	10	1403	c.1372C>A	c.(1372-1374)Cgg>Agg	p.R458R	PLBD2_ENST00000545182.2_Silent_p.R426R	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	458					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CGGGAGCCCCCGGGCCCAGAT	0.607000													38	458					5.2432e-18	5.82025e-18	1	1	0
MUC16	94025	broad.mit.edu	37	19	9089833	9089833	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:9089833C>T	ENST00000397910.4	-	1	2185	c.1982G>A	c.(1981-1983)gGc>gAc	p.G661D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	661	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						AGGACTTGAGCCAGCAGCCGT	0.532000													9	1009					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108385347	108385347	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:108385347T>A	ENST00000265843.4	-	6	997	c.887A>T	c.(886-888)gAt>gTt	p.D296V	EXPH5_ENST00000428840.1_Missense_Mutation_p.D220V|EXPH5_ENST00000443411.1_Missense_Mutation_p.D108V|EXPH5_ENST00000525344.1_Missense_Mutation_p.D289V|EXPH5_ENST00000524840.1_5'UTR	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	296					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CCTATACATATCATAAATTGT	0.393000													3	103					0	0	1	0	0
KDM7A	80853	broad.mit.edu	37	7	139801846	139801846	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:139801846G>A	ENST00000397560.2	-	12	1640	c.1543C>T	c.(1543-1545)Cga>Tga	p.R515*	JHDM1D_ENST00000006967.5_Nonsense_Mutation_p.R515*	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		515					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TTATGATCTCGAAGTTTCCTC	0.448000													11	866					0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183226024	183226024	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:183226024C>T	ENST00000341319.3	-	3	767	c.732G>A	c.(730-732)cgG>cgA	p.R244R		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	244	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			ATGGCTTGTGCCGGACCCAGC	0.562000													4	352					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173232867	173232867	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:173232867C>A	ENST00000506823.1	+	4	1007	c.350C>A	c.(349-351)gCt>gAt	p.A117D	GALNTL6_ENST00000457021.1_3'UTR|GALNTL6_ENST00000508122.1_Missense_Mutation_p.A100D	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	117						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AACAATATTGCTCTAGAGAGG	0.393000													4	400					1	1	1	1	0
SCUBE3	222663	broad.mit.edu	37	6	35211519	35211519	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:35211519C>T	ENST00000274938.7	+	16	2058	c.2058C>T	c.(2056-2058)gtC>gtT	p.V686V	SCUBE3_ENST00000394681.1_Silent_p.V702V	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	686					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CCACCAACGTCACCACGTGTG	0.632000													4	196					0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1575967	1575967	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:1575967G>A	ENST00000426508.2	-	21	3052	c.2689C>T	c.(2689-2691)Cgc>Tgc	p.R897C	IFT140_ENST00000361339.5_Missense_Mutation_p.R91C	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	897										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)				AGGTGCACGCGATCGTGGTGC	0.687000													2	4					0	0	1	0	0
ANKRD22	118932	broad.mit.edu	37	10	90591657	90591657	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:90591657G>A	ENST00000371930.4	-	2	358	c.148C>T	c.(148-150)Cga>Tga	p.R50*		NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	50										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		ACATGCCCTCGCCTGCAAGCA	0.463000													11	1199					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43606730	43606730	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:43606730G>A	ENST00000355710.3	+	7	1571	c.1339G>A	c.(1339-1341)Gcc>Acc	p.A447T	RET_ENST00000340058.5_Missense_Mutation_p.A447T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	447					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TTCCTCTGGTGCCAACTGCAG	0.592000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				5	213					0	0	1	0	0
NDUFS6	4726	broad.mit.edu	37	5	1801536	1801536	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:1801536C>A	ENST00000274137.5	+	1	23	c.5C>A	c.(4-6)gCg>gAg	p.A2E	NDUFS6_ENST00000469176.1_Missense_Mutation_p.A2E|NDUFS6_ENST00000510329.1_3'UTR	NM_004553.4	NP_004544.1	O75380	NDUS6_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)	2					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7					NADH(DB00157)	CGCAAAATGGCGGCGGCGATG	0.687000													3	30					0.014758	0.015362	1	1	0
GABPB2	126626	broad.mit.edu	37	1	151076146	151076146	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:151076146C>T	ENST00000368918.3	+	6	1062	c.731C>T	c.(730-732)gCc>gTc	p.A244V	GABPB2_ENST00000368916.1_Intron|GABPB2_ENST00000368917.1_Intron|GABPB2_ENST00000467551.1_Intron	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	244					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		TCACACAGAGCCACAGGTAGG	0.433000													4	147					0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48154790	48154790	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:48154790C>G	ENST00000320031.8	+	16	2448	c.2118C>G	c.(2116-2118)aaC>aaG	p.N706K	ITGA3_ENST00000007722.7_Missense_Mutation_p.N706K	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	706					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						AGCTGGGGAACCCCTTCAAAC	0.592000													4	303					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	250347	250347	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:250347C>T	ENST00000538872.1	+	5	2167	c.2049C>T	c.(2047-2049)ccC>ccT	p.P683P	RP11-598F7.4_ENST00000505893.2_RNA|RP11-598F7.4_ENST00000508953.2_RNA|IQSEC3_ENST00000326261.4_Silent_p.P683P|IQSEC3_ENST00000382841.2_Silent_p.P380P			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	683	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CGGACACCCCCATCGGTGTGG	0.602000													4	325					0	0	1	0	0
ZNF678	339500	broad.mit.edu	37	1	227842419	227842419	+	Silent	SNP	C	C	T	rs145594170		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:227842419C>T	ENST00000343776.4	+	4	813	c.468C>T	c.(466-468)gaC>gaT	p.D156D	ZNF678_ENST00000397097.3_Silent_p.D211D|ZNF678_ENST00000498759.1_Intron			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	211					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D156D(1)|p.D211D(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				ACAAATGTGACGAATGTGGCA	0.343000													3	94					0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134073762	134073762	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:134073762C>T	ENST00000359428.5	+	29	5025	c.4881C>T	c.(4879-4881)ggC>ggT	p.G1627G	NUP214_ENST00000451030.1_Silent_p.G1628G|NUP214_ENST00000411637.2_Silent_p.G1617G|NUP214_ENST00000483497.2_Silent_p.G453G			P35658	NU214_HUMAN	nucleoporin 214kDa	1627	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 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)		TTGCTCCCGGCCCATCTGCAG	0.572000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								6	250					0	0	1	0	0
LPAR5	57121	broad.mit.edu	37	12	6729643	6729643	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:6729643C>G	ENST00000329858.4	-	2	1528	c.772G>C	c.(772-774)Ggg>Cgg	p.G258R	LPAR5_ENST00000540335.1_5'UTR|LPAR5_ENST00000431922.1_Missense_Mutation_p.G258R	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	258						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						CGCAGCAGCCCGTAGACCGCC	0.692000													6	16					0	0	1	0	0
TP53I3	9540	broad.mit.edu	37	2	24307066	24307066	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:24307066A>G	ENST00000238721.4	-	1	985	c.131T>C	c.(130-132)tTa>tCa	p.L44S	TP53I3_ENST00000417886.1_5'UTR|TP53I3_ENST00000335934.4_Missense_Mutation_p.L44S|TP53I3_ENST00000407482.1_Missense_Mutation_p.L44S|TP53I3_ENST00000313482.4_Missense_Mutation_p.L44S|FAM228B_ENST00000461972.1_Intron	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	44					induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding	p.L44S(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACCTGCATTAAGTCCGCCCG	0.667000											OREG0014492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	86	34					0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100479340	100479340	+	Silent	SNP	T	T	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100479340T>G	ENST00000388793.4	+	4	532	c.312T>G	c.(310-312)ggT>ggG	p.G104G	SRRT_ENST00000347433.4_Silent_p.G104G|SRRT_ENST00000432932.1_Silent_p.G104G|SRRT_ENST00000457580.2_Silent_p.G104G	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	104					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.G104G(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CTGGGGGGGGTGGGGGCCCAA	0.607000													20	529					0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	124007759	124007759	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:124007759C>A	ENST00000456829.2	+	15	1914	c.1663C>A	c.(1663-1665)Cag>Aag	p.Q555K	VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Missense_Mutation_p.Q555K	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	555										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GTCCTTGCTCCAGACCAAGGA	0.453000													5	102					1.23904e-05	1.33734e-05	1	1	0
SCUBE2	57758	broad.mit.edu	37	11	9043470	9043470	+	Silent	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:9043470G>T	ENST00000457346.2	-	22	2961	c.2887C>A	c.(2887-2889)Cga>Aga	p.R963R	SCUBE2_ENST00000450649.2_Silent_p.R742R|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Silent_p.R934R|SCUBE2_ENST00000520467.1_Silent_p.R906R			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	934						extracellular region	calcium ion binding	p.R934R(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CTGCCATCTCGAACTATGTCT	0.433000													9	304					3.03607e-14	3.35747e-14	1	1	0
TRPV4	59341	broad.mit.edu	37	12	110230554	110230554	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:110230554G>A	ENST00000418703.2	-	10	1821	c.1727C>T	c.(1726-1728)gCc>gTc	p.A576V	TRPV4_ENST00000346520.2_Missense_Mutation_p.A516V|TRPV4_ENST00000392719.2_Missense_Mutation_p.A529V|TRPV4_ENST00000544971.1_Missense_Mutation_p.A469V|TRPV4_ENST00000537083.1_Missense_Mutation_p.A516V|TRPV4_ENST00000536838.1_Missense_Mutation_p.A542V|TRPV4_ENST00000541794.1_Missense_Mutation_p.A529V|TRPV4_ENST00000261740.2_Missense_Mutation_p.A576V	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	576					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GACCATCACGGCCAGGTAGGC	0.572000													4	148					0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69344706	69344706	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:69344706C>T	ENST00000305363.4	+	9	1171	c.1107C>T	c.(1105-1107)tgC>tgT	p.C369C		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	369	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CAGATGCATGCCAGGTAAACA	0.363000													6	491					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32165316	32165316	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:32165316G>A	ENST00000375023.3	-	27	4950	c.4812C>T	c.(4810-4812)acC>acT	p.T1604T	NOTCH4_ENST00000443903.2_Silent_p.T13T	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1604					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						CCCCTTGGAAGGTCCCGGACT	0.587000													4	216					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28847437	28847437	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:28847437C>T	ENST00000336783.4	+	22	3246	c.3079C>T	c.(3079-3081)Ccc>Tcc	p.P1027S	ATXN2L_ENST00000564304.1_Missense_Mutation_p.P1033S|ATXN2L_ENST00000570200.1_Missense_Mutation_p.P1027S|ATXN2L_ENST00000395547.2_Missense_Mutation_p.P1027S|ATXN2L_ENST00000382686.4_Missense_Mutation_p.P1027S|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000325215.6_Missense_Mutation_p.P1027S|ATXN2L_ENST00000340394.8_Missense_Mutation_p.P1027S	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1027						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CATCGGACACCCCCAAGGTGA	0.632000													4	142					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17110165	17110165	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:17110165A>G	ENST00000377833.4	-	21	2971	c.2906T>C	c.(2905-2907)cTg>cCg	p.L969P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	969	CUB 5.		L -> V (in dbSNP:rs11254354).		cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.L969P(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TAAATGAATCAGGTGATTAGG	0.413000													121	247					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53845394	53845394	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:53845394G>C	ENST00000288139.3	+	49	6625	c.6507G>C	c.(6505-6507)gaG>gaC	p.E2169D	CACNA1D_ENST00000350061.5_Missense_Mutation_p.E2149D|CACNA1D_ENST00000422281.2_Missense_Mutation_p.E2125D	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2149					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.E2169D(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GGGATGAGGAGGACCTGGCGG	0.622000													9	58					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17131353	17131353	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:17131353C>T	ENST00000418129.2	+	6	3420	c.2955C>T	c.(2953-2955)cgC>cgT	p.R985R	PLCL2_ENST00000432376.1_Silent_p.R985R	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	1111					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AGAAGCCACGCCGGAGCTTGG	0.418000													4	151					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20066823	20066823	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:20066823A>T	ENST00000396085.1	+	14	3870	c.3509A>T	c.(3508-3510)gAt>gTt	p.D1170V	NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000349880.4_Missense_Mutation_p.D1170V|NAV2_ENST00000527559.2_Missense_Mutation_p.D1122V|NAV2_ENST00000311043.8_Missense_Mutation_p.D256V|NAV2_ENST00000360655.4_Missense_Mutation_p.D1106V|NAV2_ENST00000540292.1_Missense_Mutation_p.D1124V|NAV2_ENST00000533917.1_Missense_Mutation_p.D256V|NAV2_ENST00000396087.3_Missense_Mutation_p.D1193V	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1193						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						TCAAGTATGGATGGGGCTCAG	0.572000													6	364					0	0	1	0	0
ADTRP	84830	broad.mit.edu	37	6	11768573	11768573	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:11768573A>G	ENST00000414691.3	-	2	607	c.197T>C	c.(196-198)gTg>gCg	p.V66A	ADTRP_ENST00000229583.5_Missense_Mutation_p.V84A|ADTRP_ENST00000379413.2_Missense_Mutation_p.V66A	NM_032744.3	NP_116133.1	Q96IZ2	CF105_HUMAN	androgen-dependent TFPI-regulating protein	66						integral to membrane											TCTTTTCAGCACATCATCCAG	0.418000													6	235					0	0	1	0	0
OR4C12	283093	broad.mit.edu	37	11	50003718	50003718	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:50003718G>A	ENST00000335238.4	-	1	353	c.320C>T	c.(319-321)gCt>gTt	p.A107V		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GATCTCAGTAGCACCAAAAAT	0.448000													10	582					0	0	1	0	0
KRT17	3872	broad.mit.edu	37	17	39780508	39780508	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:39780508T>C	ENST00000311208.8	-	1	321	c.254A>G	c.(253-255)aAg>aGg	p.K85R	JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	85	Coil 1A.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				CATGGTGGCCTTCTCACCTCC	0.612000													5	338					0	0	1	0	0
ATP6V0D1	9114	broad.mit.edu	37	16	67514882	67514882	+	Silent	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:67514882C>A	ENST00000290949.3	-	1	258	c.108G>T	c.(106-108)ctG>ctT	p.L36L	ATP6V0D1_ENST00000540149.1_Silent_p.L36L	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	36					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CGCACTGCACCAGGTTGAGGT	0.647000													5	103					0.014758	0.015362	1	1	0
ZNF93	81931	broad.mit.edu	37	19	20044507	20044507	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:20044507A>G	ENST00000343769.5	+	4	771	c.743A>G	c.(742-744)gAg>gGg	p.E248G	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	248						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						AGTAAACATGAGATCATTCAT	0.363000													3	85					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52387249	52387249	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:52387249T>C	ENST00000420323.2	+	19	3419	c.3158T>C	c.(3157-3159)cTg>cCg	p.L1053P		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1053	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L1053P(2)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCTGAGCAGCTGGAGAAGAAC	0.577000													46	62					0	0	1	0	0
NXF1	10482	broad.mit.edu	37	11	62569086	62569086	+	Silent	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:62569086T>A	ENST00000531709.2	-	7	770	c.657A>T	c.(655-657)cgA>cgT	p.R219R	NXF1_ENST00000294172.2_Silent_p.R219R|NXF1_ENST00000532297.1_Silent_p.R219R|NXF1_ENST00000531131.1_5'UTR|NXF1_ENST00000439713.2_Silent_p.R219R	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	219	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGCCATCGTATCGTTTGCTCA	0.507000													9	1315					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936658	15936658	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:15936658C>T	ENST00000504595.1	+	4	1320	c.839C>T	c.(838-840)aCg>aTg	p.T280M	FBXL7_ENST00000510662.1_Missense_Mutation_p.T233M|FBXL7_ENST00000329673.7_Missense_Mutation_p.T268M	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	280					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CTGGACATGACGGACTGCTTC	0.612000													5	400					0	0	1	0	0
PARL	55486	broad.mit.edu	37	3	183547481	183547481	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:183547481C>T	ENST00000317096.4	-	10	1105	c.1045G>A	c.(1045-1047)Ggt>Agt	p.G349S	PARL_ENST00000311101.5_Missense_Mutation_p.G299S|PARL_ENST00000435888.1_Missense_Mutation_p.G265S	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	349					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGTTCATGACCGTAAGTAACA	0.428000													4	344					0	0	1	0	0
SLC19A3	80704	broad.mit.edu	37	2	228552284	228552284	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:228552284T>A	ENST00000258403.3	-	6	1391	c.1320A>T	c.(1318-1320)ttA>ttT	p.L440F	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.L436F	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	440					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	TCCCATAAACTAAAAACTGGA	0.353000													3	30					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801529	185801529	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:185801529T>A	ENST00000302277.6	+	4	2000	c.1406T>A	c.(1405-1407)gTa>gAa	p.V469E		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	469						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCTACTAAAGTAAATAATAAT	0.353000													4	41					0	0	1	0	0
UHRF2	115426	broad.mit.edu	37	9	6420910	6420910	+	Splice_Site	SNP	A	A	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:6420910A>T	ENST00000276893.5	+	2	321		c.e2-1		RP11-307L3.4_ENST00000411561.1_RNA|UHRF2_ENST00000381373.3_Splice_Site	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase						cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		TTTATTTTCTAGTTGGAAAAT	0.343000													4	97					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143048986	143048986	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:143048986G>T	ENST00000343257.2	+	23	2982	c.2895G>T	c.(2893-2895)gaG>gaT	p.E965D		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	965					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TGGAAGAGGAGCTGGCCGACA	0.622000													8	1028					6.5536e-12	7.2065e-12	1	1	0
ASAH1	427	broad.mit.edu	37	8	17920737	17920737	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:17920737G>A	ENST00000262097.6	-	7	771	c.460C>T	c.(460-462)Cat>Tat	p.H154Y	ASAH1_ENST00000520781.1_Missense_Mutation_p.H129Y|ASAH1_ENST00000314146.10_Missense_Mutation_p.H148Y|ASAH1_ENST00000381733.4_Missense_Mutation_p.H170Y|ASAH1_ENST00000417108.2_Missense_Mutation_p.H64Y	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	154					ceramide metabolic process	lysosome	ceramidase activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TGTATTAGATGACCTATTTGA	0.353000													6	712					0	0	1	0	0
PKN3	29941	broad.mit.edu	37	9	131477488	131477488	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:131477488G>A	ENST00000291906.4	+	14	2083	c.1690G>A	c.(1690-1692)Gtg>Atg	p.V564M	PKN3_ENST00000485301.1_3'UTR	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	564	Protein kinase.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						CTGCTTAGCTGTGCTGGGCCG	0.612000													8	396					0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38791915	38791915	+	Splice_Site	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:38791915T>A	ENST00000310301.4	-	22	1843		c.e22-2		VPS41_ENST00000395969.2_Splice_Site	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)						Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						ATGCAAATACTAAAAGGAACA	0.388000													6	185					0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:12155673A>C	ENST00000602107.1	-	5	683	c.684T>G	c.(682-684)agT>agG	p.S228R	CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000476474.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	181					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						AACTGGGAAAACTGAATGCTT	0.403000													6	705					0	0	1	0	0
ZBTB5	9925	broad.mit.edu	37	9	37442314	37442314	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:37442314C>T	ENST00000307750.4	-	2	423	c.235G>A	c.(235-237)Gca>Aca	p.A79T		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	79	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		TCAATCAGTGCAGCAAAGGCC	0.512000													28	2978					0	0	1	0	0
NETO2	81831	broad.mit.edu	37	16	47165938	47165938	+	Splice_Site	SNP	T	T	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:47165938T>A	ENST00000562435.1	-	2	419		c.e2-2		NETO2_ENST00000303155.5_Splice_Site	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2							integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TTAACAACACTAGAGAAATAA	0.313000										HNSCC(25;0.065)			5	258					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412857	105412857	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:105412857C>T	ENST00000333244.5	-	7	9050	c.8931G>A	c.(8929-8931)aaG>aaA	p.K2977K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2977						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)			GCATTTTGAACTTGCTGTCTT	0.607000													5	229					0	0	1	0	0
EML4	27436	broad.mit.edu	37	2	42522564	42522564	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:42522564G>T	ENST00000318522.5	+	13	1659	c.1397G>T	c.(1396-1398)gGg>gTg	p.G466V	EML4_ENST00000402711.2_Missense_Mutation_p.G408V|EML4_ENST00000401738.3_Missense_Mutation_p.G477V	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	466					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GCATTCTTGGGGAATGGAGAT	0.388000			T	ALK	NSCLC								5	138					0.00116845	0.00123383	1	1	0
PDIA5	10954	broad.mit.edu	37	3	122843162	122843162	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:122843162G>T	ENST00000316218.7	+	10	840	c.745G>T	c.(745-747)Gct>Tct	p.A249S		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	249	Thioredoxin 1.				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)		TGGGTCCACAGCTGAGGACAT	0.572000													6	1012					0.115264	0.118923	1	1	0
PLXND1	23129	broad.mit.edu	37	3	129280738	129280738	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:129280738C>T	ENST00000393239.1	-	28	5012	c.4834G>A	c.(4834-4836)Gcc>Acc	p.A1612T	PLXND1_ENST00000324093.4_Missense_Mutation_p.A1612T			Q9Y4D7	PLXD1_HUMAN	plexin D1	1612					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GTGCTGGAGGCGAACCACTCT	0.632000													8	189					0	0	1	0	0
ALCAM	214	broad.mit.edu	37	3	105253632	105253632	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:105253632T>C	ENST00000306107.5	+	6	1173	c.673T>C	c.(673-675)Tat>Cat	p.Y225H	ALCAM_ENST00000472644.2_Missense_Mutation_p.Y225H|ALCAM_ENST00000486979.2_Missense_Mutation_p.Y174H|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000389927.4_Missense_Mutation_p.Y34H	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	225	Ig-like V-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GGTGACATATTATGGACCATC	0.378000													4	276					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8993009	8993009	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:8993009C>A	ENST00000397910.4	-	67	41953	c.41750G>T	c.(41749-41751)aGc>aTc	p.S13917I	MUC16_ENST00000380951.5_Missense_Mutation_p.S558I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13920				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATACTCACTGCTGGTGGTGGG	0.532000													7	465					0.00010058	0.00010698	1	1	0
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:71346978T>C	ENST00000413702.1	+	4	805	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.					extracellular region	protein binding	p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522000													6	406					0	0	1	0	0
HAVCR2	84868	broad.mit.edu	37	5	156533904	156533904	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:156533904G>A	ENST00000307851.4	-	2	858	c.128C>T	c.(127-129)gCc>gTc	p.A43V	HAVCR2_ENST00000517358.1_5'UTR|CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_Missense_Mutation_p.A43V	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	43	Ig-like V-type.					integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCCTGGGGCGGCTGGGGTGTA	0.567000													9	794					0	0	1	0	0
SSU72	29101	broad.mit.edu	37	1	1500119	1500120	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:1500119_1500120insG	ENST00000359060.4	-	2	283_284	c.257_258insC	c.(256-258)ctgfs	p.L86fs	SSU72_ENST00000291386.3_Intron			Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	0					mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GAGGACCACACGGGGGGTTTTT	0.505													11	1130	---	---	---	---					
PLOD1	5351	broad.mit.edu	37	1	12024284	12024285	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:12024284_12024285insG	ENST00000196061.4	+	12	1282_1283	c.1255_1256insG	c.(1255-1257)gggfs	p.G419fs	PLOD1_ENST00000376369.3_Frame_Shift_Ins_p.G466fs	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	419					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	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 homodimerization activity	p.A421fs*45(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	GTCGAACTTCTGGGGGGCTCTC	0.629													7	485	---	---	---	---					
VPS13D	55187	broad.mit.edu	37	1	12422832	12422833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													15	493	---	---	---	---					
PRAMEF11	440560	broad.mit.edu	37	1	12885010	12885011	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:12885010_12885011insT	ENST00000535591.1	-	4	1295_1296	c.1100_1101insA	c.(1099-1101)attfs	p.I367fs		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	367										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CCAGGCATAAGTTTTTGAGTAT	0.510													8	1115	---	---	---	---					
SPEN	23013	broad.mit.edu	37	1	16259479	16259480	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													18	662	---	---	---	---					
NBPF1	55672	broad.mit.edu	37	1	16907916	16907917	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:16907916_16907917insG	ENST00000430580.2	-	15	2264_2265	c.1379_splice	c.e15+1	p.PG459_splice		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	459	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAGTGTTACCTGGGGGCAGATG	0.436													7	1952	---	---	---	---					
ARHGEF10L	55160	broad.mit.edu	37	1	17914102	17914103	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:17914102_17914103insC	ENST00000361221.3	+	3	344_345	c.185_186insC	c.(184-186)gccfs	p.A62fs	ARHGEF10L_ENST00000434513.1_Frame_Shift_Ins_p.A62fs|ARHGEF10L_ENST00000452522.1_Frame_Shift_Ins_p.A62fs|ARHGEF10L_ENST00000375415.1_Frame_Shift_Ins_p.A62fs	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	62					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		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;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGGGACACAGACCCCCCACTGA	0.589													12	1934	---	---	---	---					
LUZP1	7798	broad.mit.edu	37	1	23417944	23417945	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:23417944_23417945insG	ENST00000302291.4	-	4	3611_3612	c.2810_2811insC	c.(2809-2811)cacfs	p.H937fs	LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000374623.3_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													8	775	---	---	---	---					
HTR1D	3352	broad.mit.edu	37	1	23520194	23520195	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:23520194_23520195insG	ENST00000374619.1	-	1	1027_1028	c.518_519insC	c.(517-519)cctfs	p.P173fs	HTR1D_ENST00000314113.3_Frame_Shift_Ins_p.P173fs	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	173					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	p.P173P(1)		NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GCCAGAAGAGCGGGGGGATGGA	0.594													7	736	---	---	---	---					
STPG1	90529	broad.mit.edu	37	1	24700236	24700237	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:24700236_24700237insT	ENST00000374409.1	-	6	780_781	c.526_527insA	c.(526-528)ccafs	p.P176fs	STPG1_ENST00000440416.1_Frame_Shift_Ins_p.P129fs|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000337248.4_Frame_Shift_Ins_p.P176fs|STPG1_ENST00000003583.8_Frame_Shift_Ins_p.P129fs	NM_001199012.1	NP_001185941.1			sperm-tail PG-rich repeat containing 1																		TCCTCTTTGGGTTTTTGACATA	0.485													11	1520	---	---	---	---					
LDLRAP1	26119	broad.mit.edu	37	1	25889626	25889627	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:25889626_25889627insC	ENST00000374338.4	+	6	717_718	c.598_599insC	c.(598-600)cccfs	p.P200fs	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	200					amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		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;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		CCAAGACTGCACCCCCTCCTTG	0.634													15	173	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs	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"""								19	513	---	---	---	---					
RAB42	115273	broad.mit.edu	37	1	28920546	28920547	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:28920546_28920547insG	ENST00000373826.3	+	2	541_542	c.235_236insG	c.(235-237)gggfs	p.G79fs	RAB42_ENST00000465518.1_3'UTR|TAF12_ENST00000471683.1_Intron	NM_152304.1	NP_689517.1	Q8N4Z0	RAB42_HUMAN	RAB42, member RAS oncogene family	79					small GTPase mediated signal transduction	membrane	GTP binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAGAGGGCTGGGGGGGTGTC	0.584													7	140	---	---	---	---					
PUM1	9698	broad.mit.edu	37	1	31406073	31406074	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:31406073_31406074insG	ENST00000373747.3	-	22	3653_3654	c.3554_3555insC	c.(3553-3555)caafs	p.Q1185fs	PUM1_ENST00000426105.2_Frame_Shift_Ins_p.Q1184fs|PUM1_ENST00000424085.2_Frame_Shift_Ins_p.Q940fs|PUM1_ENST00000423018.2_Frame_Shift_Ins_p.Q1040fs|PUM1_ENST00000257075.5_Frame_Shift_Ins_p.Q1182fs|PUM1_ENST00000373742.2_Frame_Shift_Ins_p.Q1123fs|PUM1_ENST00000440538.2_Frame_Shift_Ins_p.Q1158fs|PUM1_ENST00000373741.4_Frame_Shift_Ins_p.Q1220fs	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1182					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TGATACCATTAGGGGGGCCACA	0.525													7	907	---	---	---	---					
FABP3	2170	broad.mit.edu	37	1	31842272	31842273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:31842272_31842273insC	ENST00000373713.2	-	2	266_267	c.205_206insG	c.(205-207)ggafs	p.G69fs	FABP3_ENST00000497275.1_5'UTR	NM_004102.3	NP_004093.1	P05413	FABPH_HUMAN	fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	69					negative regulation of cell proliferation					large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		ATCGAACTCCACCCCCAACTTA	0.475													7	2565	---	---	---	---					
BAI2	576	broad.mit.edu	37	1	32207235	32207236	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:32207235_32207236insG	ENST00000373658.3	-	10	2017_2018	c.1676_1677insC	c.(1675-1677)caafs	p.Q559fs	BAI2_ENST00000398538.1_Frame_Shift_Ins_p.Q547fs|BAI2_ENST00000373655.2_Frame_Shift_Ins_p.Q559fs|BAI2_ENST00000398542.1_Frame_Shift_Ins_p.Q492fs|BAI2_ENST00000440175.2_Frame_Shift_Ins_p.Q201fs|BAI2_ENST00000398556.3_Frame_Shift_Ins_p.Q507fs|BAI2_ENST00000257070.4_Frame_Shift_Ins_p.Q559fs|BAI2_ENST00000398547.1_Frame_Shift_Ins_p.Q492fs|BAI2_ENST00000527361.1_Frame_Shift_Ins_p.Q559fs	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	559					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P559Q(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTGAGGCATTCGGGGGGCACTT	0.594													7	251	---	---	---	---					
KHDRBS1	10657	broad.mit.edu	37	1	32503458	32503459	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:32503458_32503459insG	ENST00000327300.7	+	6	1095_1096	c.928_929insG	c.(928-930)gggfs	p.G310fs	KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Frame_Shift_Ins_p.G271fs	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	310	Arg/Gly-rich.				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGGACCACCTCGGGGGGCTTTG	0.500													11	702	---	---	---	---					
IQCC	55721	broad.mit.edu	37	1	32673442	32673443	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:32673442_32673443insG	ENST00000537469.1	+	5	1447_1448	c.1400_1401insG	c.(1399-1401)tggfs	p.W467fs	IQCC_ENST00000291358.6_Frame_Shift_Ins_p.W387fs	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	387										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATGGTACCTTGGGGGGGCCAG	0.550													9	295	---	---	---	---					
MARCKSL1	65108	broad.mit.edu	37	1	32800539	32800540	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:32800539_32800540insG	ENST00000329421.7	-	2	591_592	c.246_247insC	c.(244-249)ccaggafs	p.G83fs		NM_023009.6	NP_075385.1	P49006	MRP_HUMAN	MARCKS-like 1	83						plasma membrane	calmodulin binding	p.K83fs*33(2)		breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGGGTCTCCTTGGGGGGGACCT	0.589													9	228	---	---	---	---					
BSDC1	55108	broad.mit.edu	37	1	32842206	32842207	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:32842206_32842207insG	ENST00000341071.7	-	9	874_875	c.863_864insC	c.(862-864)cgcfs	p.R288fs	BSDC1_ENST00000446293.2_Frame_Shift_Ins_p.R288fs|BSDC1_ENST00000413080.1_Frame_Shift_Ins_p.R210fs|BSDC1_ENST00000419121.2_Frame_Shift_Ins_p.R215fs|BSDC1_ENST00000449308.1_Frame_Shift_Ins_p.R271fs|BSDC1_ENST00000526031.1_Frame_Shift_Ins_p.R176fs|BSDC1_ENST00000455895.2_Frame_Shift_Ins_p.R271fs			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	271							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TCACCTCTGCTGGGGGCTCAAC	0.574													7	2000	---	---	---	---					
KIAA1522	57648	broad.mit.edu	37	1	33233494	33233495	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:33233494_33233495insC	ENST00000401073.2	+	2	412_413	c.342_343insC	c.(340-345)cgccccfs	p.RP114fs	KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.RP66fs|KIAA1522_ENST00000373480.1_Frame_Shift_Ins_p.RP55fs	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	55			S -> P (in dbSNP:rs3737994).							breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAGTGGGCGACCCCCCCACCT	0.614													23	275	---	---	---	---					
FNDC5	252995	broad.mit.edu	37	1	33330279	33330280	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:33330279_33330280insC	ENST00000373471.3	-	5	684_685	c.393_394insG	c.(391-396)ggttctfs	p.S132fs	FNDC5_ENST00000481487.1_5'UTR	NM_001171940.1|NM_153756.2	NP_001165411.1|NP_715637.1	Q8NAU1	FNDC5_HUMAN	fibronectin type III domain containing 5	191						integral to membrane|peroxisomal membrane				breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTGCGGAGAAGCCCCCCGCCCT	0.584													7	364	---	---	---	---					
ZSCAN20	7579	broad.mit.edu	37	1	33955164	33955165	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:33955164_33955165insC	ENST00000361328.3	+	5	881_882	c.728_729insC	c.(727-729)gccfs	p.A243fs	ZSCAN20_ENST00000373413.2_Intron	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	243					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTCTGTAAAGACCCCCCAGGAG	0.545													7	479	---	---	---	---					
CSMD2	114784	broad.mit.edu	37	1	34180227	34180228	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:34180227_34180228insC	ENST00000373381.4	-	21	3541_3542	c.3365_3366insG	c.(3364-3366)gagfs	p.E1122fs		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1082	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCGCCGTCTGCCCCCCAGGCA	0.599													29	2652	---	---	---	---					
BMP8B	656	broad.mit.edu	37	1	40228876	40228877	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:40228876_40228877insG	ENST00000372827.3	-	6	1324		c.e6-2		PPIE_ENST00000372830.1_Intron|PPIE_ENST00000356511.2_Intron	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b						cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GACCCAGTCCTGGGGGGCAAGG	0.639													9	292	---	---	---	---					
NFYC	4802	broad.mit.edu	37	1	41236477	41236478	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:41236477_41236478insC	ENST00000372652.1	+	10	1565_1566	c.1297_1298insC	c.(1297-1299)cccfs	p.P433fs	NFYC_ENST00000372651.1_Frame_Shift_Ins_p.P329fs|NFYC_ENST00000372653.1_Frame_Shift_Ins_p.P295fs|NFYC_ENST00000372654.1_Frame_Shift_Ins_p.P329fs|NFYC_ENST00000440226.3_Frame_Shift_Ins_p.P329fs|NFYC_ENST00000447388.3_Frame_Shift_Ins_p.P329fs|NFYC_ENST00000427410.2_Frame_Shift_Ins_p.P291fs|NFYC_ENST00000425457.2_Frame_Shift_Ins_p.P348fs|NFYC_ENST00000456393.2_Frame_Shift_Ins_p.P328fs|NFYC_ENST00000308733.5_Frame_Shift_Ins_p.P452fs			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	452					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			CGACGGGCAGGCCCCCCAGGTG	0.639													7	508	---	---	---	---					
HIVEP3	59269	broad.mit.edu	37	1	42050006	42050007	+	Frame_Shift_Ins	INS	-	-	G	rs138785392		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:42050006_42050007insG	ENST00000372584.1	-	3	1476_1477	c.462_463insC	c.(460-465)ccaggafs	p.G155fs	HIVEP3_ENST00000372583.1_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.G155fs	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	155					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGAAGGTCCTCGGGGGGAATGA	0.604													9	510	---	---	---	---					
HIVEP3	59269	broad.mit.edu	37	1	42050225	42050226	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:42050225_42050226insG	ENST00000372584.1	-	3	1257_1258	c.243_244insC	c.(241-246)ccaaagfs	p.PK81fs	HIVEP3_ENST00000372583.1_Frame_Shift_Ins_p.PK81fs|HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.PK81fs|HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.PK81fs	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	81					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGGGCCTTTTGGGGGGCTTCT	0.619													8	591	---	---	---	---					
LEPRE1	64175	broad.mit.edu	37	1	43223458	43223459	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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	1570	---	---	---	---					
TIE1	7075	broad.mit.edu	37	1	43778814	43778815	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:43778814_43778815insC	ENST00000372476.3	+	13	2015_2016	c.1936_1937insC	c.(1936-1938)cccfs	p.P646fs	TIE1_ENST00000433781.2_Frame_Shift_Ins_p.P291fs	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	646	Fibronectin type-III 3.				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)				AGGGCCTCCAGCCCCCCGACAC	0.629													8	363	---	---	---	---					
SZT2	23334	broad.mit.edu	37	1	43894059	43894060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:43894059_43894060insC	ENST00000562955.1	+	27	3897_3898	c.3897_3898insC	c.(3895-3900)gcccccfs	p.AP1299fs	SZT2_ENST00000372442.1_Frame_Shift_Ins_p.AP457fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1356						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGCCTCATGCACCCCCAAGTCC	0.554													14	635	---	---	---	---					
KDM4A	9682	broad.mit.edu	37	1	44156564	44156565	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:44156564_44156565insC	ENST00000372396.3	+	14	2220_2221	c.2086_2087insC	c.(2086-2088)cccfs	p.P696fs		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	696					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TTCAGATTTAGCCCCCCAGAAG	0.470													23	2540	---	---	---	---					
ST3GAL3	6487	broad.mit.edu	37	1	44386217	44386218	+	Frame_Shift_Ins	INS	-	-	G	rs137939894		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:44386217_44386218insG	ENST00000262915.3	+	11	1270_1271	c.1093_1094insG	c.(1093-1095)gggfs	p.G365fs	ST3GAL3_ENST00000361746.4_Frame_Shift_Ins_p.G365fs|ST3GAL3_ENST00000372375.2_Frame_Shift_Ins_p.G350fs|ST3GAL3_ENST00000372369.1_Frame_Shift_Ins_p.G266fs|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000335430.6_Frame_Shift_Ins_p.AG217fs|ST3GAL3_ENST00000372377.4_3'UTR|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000372368.2_Frame_Shift_Ins_p.G350fs|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000372372.2_Frame_Shift_Ins_p.G334fs|ST3GAL3_ENST00000372374.2_Frame_Shift_Ins_p.G265fs|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000361392.4_Frame_Shift_Ins_p.G296fs|ST3GAL3_ENST00000361400.4_Frame_Shift_Ins_p.G280fs|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000351035.3_Frame_Shift_Ins_p.G334fs|ST3GAL3_ENST00000347631.2_Frame_Shift_Ins_p.G311fs|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000332628.6_Frame_Shift_Ins_p.G265fs	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	296					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity	p.R365Q(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CCTCATGGGCCGGGGGGTGAGA	0.604													16	419	---	---	---	---					
DPH2	1802	broad.mit.edu	37	1	44437613	44437614	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:44437613_44437614insC	ENST00000255108.3	+	4	1211_1212	c.1039_1040insC	c.(1039-1041)cccfs	p.P347fs	DPH2_ENST00000412950.2_Frame_Shift_Ins_p.P212fs|DPH2_ENST00000396758.2_Intron	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	347					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GGGTGCTCTAGCCCCCCAGCTT	0.609													12	975	---	---	---	---					
MAST2	23139	broad.mit.edu	37	1	46494558	46494559	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:46494558_46494559insT	ENST00000361297.2	+	18	2454_2455	c.2171_2172insT	c.(2170-2172)cttfs	p.L724fs	MAST2_ENST00000372008.1_Frame_Shift_Ins_p.L609fs|MAST2_ENST00000372009.2_Frame_Shift_Ins_p.L654fs	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	724	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GGCTGCGTCCCTTTTTTTGGAG	0.550													8	675	---	---	---	---					
CC2D1B	200014	broad.mit.edu	37	1	52824122	52824123	+	Frame_Shift_Ins	INS	-	-	G	rs147528491		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:52824122_52824123insG	ENST00000371586.2	-	13	1479_1480	c.1341_1342insC	c.(1339-1344)cctcccfs	p.P448fs	CC2D1B_ENST00000284376.3_Frame_Shift_Ins_p.P448fs|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000438831.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	448										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						AGGCCAGGGATGGGGGGAAATC	0.629													9	309	---	---	---	---					
ECHDC2	55268	broad.mit.edu	37	1	53370708	53370709	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:53370708_53370709insC	ENST00000536120.1	-	9	1190_1191	c.373_374insG	c.(373-375)aggfs	p.R125fs	ECHDC2_ENST00000371522.4_Frame_Shift_Ins_p.R171fs|ECHDC2_ENST00000358358.5_Frame_Shift_Ins_p.R140fs			Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	171					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						GCGATTACCTGCCCCCGGGAGG	0.614													7	508	---	---	---	---					
C1orf168	199920	broad.mit.edu	37	1	57254648	57254649	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:57254648_57254649insC	ENST00000343433.6	-	3	996_997	c.916_917insG	c.(916-918)agtfs	p.S306fs	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	306										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TTCCTTACCTTCCCCCTGAGTC	0.594													8	1281	---	---	---	---					
DAB1	1600	broad.mit.edu	37	1	57491653	57491654	+	Splice_Site	INS	-	-	G	rs138352976		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:57491653_57491654insG	ENST00000371236.2	-	10	1049_1050		c.e10+1		DAB1_ENST00000414851.2_Splice_Site|DAB1_ENST00000439789.2_Splice_Site|DAB1_ENST00000371234.4_Splice_Site|DAB1_ENST00000420954.2_Splice_Site|DAB1_ENST00000485760.1_Splice_Site|DAB1_ENST00000371231.1_Splice_Site			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)						cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGCATACTTACGGGGGGAGAGG	0.465													9	1153	---	---	---	---					
INADL	10207	broad.mit.edu	37	1	62293159	62293160	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:62293159_62293160insC	ENST00000371158.2	+	16	1998_1999	c.1884_1885insC	c.(1882-1887)ccccccfs	p.PP628fs	INADL_ENST00000316485.6_Frame_Shift_Ins_p.PP628fs	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	628	PDZ 4.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AAGAAGTGCCACCCCCTTTTAC	0.470													7	959	---	---	---	---					
C1orf173	127254	broad.mit.edu	37	1	75036818	75036819	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:75036818_75036819insG	ENST00000326665.5	-	14	4793_4794	c.4575_4576insC	c.(4573-4578)ccacaafs	p.Q1526fs	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1526										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						TGCACGTTGTTGGGGGAAACAT	0.515													8	2508	---	---	---	---					
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)gggfs	p.G170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386													28	426	---	---	---	---					
CDC14A	8556	broad.mit.edu	37	1	100964709	100964710	+	Frame_Shift_Ins	INS	-	-	C	rs35385659	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:100964709_100964710insC	ENST00000336454.3	+	15	2001_2002	c.1646_1647insC	c.(1645-1647)accfs	p.T549fs	CDC14A_ENST00000361544.6_Frame_Shift_Ins_p.T549fs|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000542213.1_Frame_Shift_Ins_p.T491fs|CDC14A_ENST00000544534.1_Frame_Shift_Ins_p.T549fs	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	549					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AACCTGAACAGCCCCCCAGGCC	0.559													7	243	---	---	---	---					
MYBPHL	343263	broad.mit.edu	37	1	109840130	109840131	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:109840130_109840131insCC	ENST00000357155.1	-	3	392_393	c.343_344insGG	c.(343-345)ccafs	p.P115fs	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	115	Ig-like C2-type 1.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		AGCACGTTGGGCTTCTCGGATG	0.594													100	621	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)catfs	p.H352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505													70	1062	---	---	---	---					
FAM212B	55924	broad.mit.edu	37	1	112269924	112269925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:112269924_112269925insC	ENST00000357260.5	-	2	740_741	c.559_560insG	c.(559-561)acgfs	p.T187fs	FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Frame_Shift_Ins_p.T172fs	NM_019099.4	NP_061972.1	Q9NTI7	CA183_HUMAN	family with sequence similarity 212, member B	187										cervix(1)|endometrium(1)	2						GGGTTCACGTGCCCCCCCAGTC	0.579													17	307	---	---	---	---					
SYT6	148281	broad.mit.edu	37	1	114641766	114641767	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:114641766_114641767insG	ENST00000393296.1	-	5	1390_1391	c.1313_1314insC	c.(1312-1314)cgafs	p.R438fs	SYT6_ENST00000369547.1_Frame_Shift_Ins_p.R353fs			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	438	C2 2.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	p.P353P(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-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)		CCATGTTTTCCGGGGGAATGTC	0.480													11	2466	---	---	---	---					
IGSF3	3321	broad.mit.edu	37	1	117131467	117131468	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:117131467_117131468insC	ENST00000369486.3	-	8	3053_3054	c.2288_2289insG	c.(2287-2289)gctfs	p.A763fs	IGSF3_ENST00000369483.1_Frame_Shift_Ins_p.A783fs|IGSF3_ENST00000318837.6_Frame_Shift_Ins_p.A783fs	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	763	Ig-like C2-type 6.					integral to membrane		p.G763D(1)|p.G783D(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GGCTGAACAGGCCCCCCGACAC	0.614													13	386	---	---	---	---					
NOTCH2	4853	broad.mit.edu	37	1	120458435	120458436	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:120458435_120458436insG	ENST00000256646.2	-	34	7128_7129	c.6909_6910insC	c.(6907-6912)ccttgtfs	p.C2304fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2304					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAGTCACAATGGGGGGCAAGG	0.649			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				10	401	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													15	1208	---	---	---	---					
GJA5	2702	broad.mit.edu	37	1	147230551	147230552	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:147230551_147230552insG	ENST00000271348.2	-	2	956_957	c.795_796insC	c.(793-798)ccacttfs	p.L266fs	GJA5_ENST00000369237.1_Frame_Shift_Ins_p.L266fs	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	266					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		p.P265P(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TGATTAAAGTCGGGGGGTGGTG	0.530													11	460	---	---	---	---					
SV2A	9900	broad.mit.edu	37	1	149885018	149885019	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:149885018_149885019insC	ENST00000369146.3	-	2	864_865	c.374_375insG	c.(373-375)gttfs	p.V125fs	SV2A_ENST00000369145.1_Frame_Shift_Ins_p.V125fs	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	125					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CATCACTCAAGCCCCCCCTTAC	0.629													7	151	---	---	---	---					
OTUD7B	56957	broad.mit.edu	37	1	149916719	149916720	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:149916719_149916720insC	ENST00000369135.3	-	12	1862_1863	c.1568_1569insG	c.(1567-1569)gctfs	p.A523fs		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	523					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TGTGCATCAGGCCCCCCATGTT	0.540													9	610	---	---	---	---					
PLEKHO1	51177	broad.mit.edu	37	1	150129649	150129650	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:150129649_150129650insC	ENST00000369124.4	+	5	772_773	c.494_495insC	c.(493-495)cccfs	p.P165fs	PLEKHO1_ENST00000025469.6_Intron|PLEKHO1_ENST00000369126.1_Intron|PLEKHO1_ENST00000479194.1_3'UTR	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	165	Interaction with ATM, CKIP, IFP35 and NMI.|Interaction with capping proteins (CPs).					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACTCCCGCCGCCCCCCAACAA	0.505													12	612	---	---	---	---					
TARS2	80222	broad.mit.edu	37	1	150471073	150471074	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:150471073_150471074insG	ENST00000369064.3	+	11	1368_1369	c.1334_1335insG	c.(1333-1335)cggfs	p.R445fs	TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000606933.1_Frame_Shift_Ins_p.R363fs|TARS2_ENST00000369054.2_Frame_Shift_Ins_p.R315fs|TARS2_ENST00000463555.1_3'UTR	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	445					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)	TCTGGTGGTCTGGGGGGACTGA	0.609													15	1137	---	---	---	---					
TARS2	80222	broad.mit.edu	37	1	150477198	150477199	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:150477198_150477199insG	ENST00000369064.3	+	15	1843_1844	c.1809_1810insG	c.(1807-1812)tgggggfs	p.WG603fs	TARS2_ENST00000606933.1_Frame_Shift_Ins_p.WG521fs|TARS2_ENST00000369054.2_Frame_Shift_Ins_p.WG473fs	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													10	992	---	---	---	---					
ECM1	1893	broad.mit.edu	37	1	150482150	150482151	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:150482150_150482151insC	ENST00000369047.4	+	3	260_261	c.135_136insC	c.(133-138)gcccccfs	p.AP45fs	ECM1_ENST00000346569.6_Frame_Shift_Ins_p.AP45fs|ECM1_ENST00000470432.1_3'UTR|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	947	---	---	---	---					
SETDB1	9869	broad.mit.edu	37	1	150933158	150933159	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:150933158_150933159insC	ENST00000271640.5	+	16	2810_2811	c.2620_2621insC	c.(2620-2622)cccfs	p.P874fs	SETDB1_ENST00000368969.4_Frame_Shift_Ins_p.P874fs|SETDB1_ENST00000459773.1_3'UTR	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	874	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)			TGAGAGTGATGCCCCCTGTTCC	0.490													8	1598	---	---	---	---					
VPS72	6944	broad.mit.edu	37	1	151149363	151149364	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:151149363_151149364insG	ENST00000354473.4	-	6	920_921	c.884_885insC	c.(883-885)caafs	p.Q295fs	VPS72_ENST00000496809.1_5'UTR	NM_001271087.1|NM_005997.1	NP_001258016.1|NP_005988.1	Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	284					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGGGACTTTTGGGGGCCGCCC	0.569													7	314	---	---	---	---					
POGZ	23126	broad.mit.edu	37	1	151377673	151377674	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:151377673_151377674insT	ENST00000271715.2	-	19	4151_4152	c.3837_3838insA	c.(3835-3840)aaggaafs	p.E1280fs	POGZ_ENST00000368863.2_Frame_Shift_Ins_p.E1185fs|POGZ_ENST00000392723.1_Frame_Shift_Ins_p.E1227fs|POGZ_ENST00000531094.1_Frame_Shift_Ins_p.E1218fs|POGZ_ENST00000491586.1_Frame_Shift_Ins_p.E1236fs|POGZ_ENST00000361398.3_Frame_Shift_Ins_p.E1227fs|POGZ_ENST00000409503.1_Frame_Shift_Ins_p.E1271fs|POGZ_ENST00000540984.1_Frame_Shift_Ins_p.E642fs	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1280	DDE.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGTTCCTTCCATTTTTTATGCA	0.480													8	1572	---	---	---	---					
CELF3	11189	broad.mit.edu	37	1	151681714	151681715	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:151681714_151681715insC	ENST00000290583.4	-	4	1180_1181	c.387_388insG	c.(385-390)ggcagafs	p.R130fs	CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Frame_Shift_Ins_p.R130fs	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	130	RRM 2.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						GTGCCATCTGGCCCCCGGAGCA	0.614													7	1817	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152325997	152325998	+	Frame_Shift_Ins	INS	-	-	ATCCCCT			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:152325997_152325998insATCCCCT	ENST00000388718.5	-	3	4336_4337	c.4264_4265insAGGGGAT	c.(4264-4266)tggfs	p.W1422fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1422							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)			ACTATGGCCAGATCCCCTTCTT	0.530													16	1118	---	---	---	---					
LCE3B	353143	broad.mit.edu	37	1	152586348	152586349	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:152586348_152586349insC	ENST00000335633.1	+	1	62_63	c.62_63insC	c.(61-63)tccfs	p.S21fs		NM_178433.1	NP_848520.1	Q5TA77	LCE3B_HUMAN	late cornified envelope 3B	21	Cys-rich.				keratinization					large_intestine(1)|lung(2)|prostate(1)	4	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		TCACCCAAGTGCCCCCCAAAGA	0.619													8	425	---	---	---	---					
LCE2C	353140	broad.mit.edu	37	1	152648575	152648576	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:152648575_152648576insC	ENST00000368783.1	+	2	139_140	c.84_85insC	c.(82-87)tgccccfs	p.CP28fs	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	28	Cys-rich.				keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			cacctaagtgtccccccaaATG	0.589													12	1050	---	---	---	---					
SPRR4	163778	broad.mit.edu	37	1	152944453	152944454	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:152944453_152944454insC	ENST00000328051.2	+	2	136_137	c.87_88insC	c.(85-90)ccccccfs	p.PP29fs		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	29	Gln-rich.				keratinization|peptide cross-linking	cell cortex				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTTGTCAGCCACCCCCTGTTAA	0.574													7	588	---	---	---	---					
CREB3L4	148327	broad.mit.edu	37	1	153941096	153941097	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:153941096_153941097insC	ENST00000368607.3	+	2	361_362	c.95_96insC	c.(94-96)tccfs	p.S32fs	CREB3L4_ENST00000271889.4_Frame_Shift_Ins_p.S32fs|CREB3L4_ENST00000368601.1_Frame_Shift_Ins_p.S32fs|CREB3L4_ENST00000368603.1_Frame_Shift_Ins_p.S32fs|CREB3L4_ENST00000368600.3_Frame_Shift_Ins_p.S32fs|CREB3L4_ENST00000405694.3_5'UTR	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	32					response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	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)			GGACTCCACTGCCCCCCTCCAG	0.614													25	1513	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154246356	154246357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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_ENST00000457918.2_Frame_Shift_Ins_p.LG93fs|HAX1_ENST00000532105.1_Frame_Shift_Ins_p.LG13fs	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				11	344	---	---	---	---					
SHC1	6464	broad.mit.edu	37	1	154938467	154938468	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:154938467_154938468insG	ENST00000448116.2	-	10	1561_1562	c.1341_1342insC	c.(1339-1344)ccatccfs	p.S448fs	SHC1_ENST00000368445.5_Frame_Shift_Ins_p.S447fs|SHC1_ENST00000606391.1_Frame_Shift_Ins_p.S248fs|SHC1_ENST00000368449.4_Frame_Shift_Ins_p.S218fs|SHC1_ENST00000368453.4_Frame_Shift_Ins_p.S338fs|SHC1_ENST00000368450.1_Frame_Shift_Ins_p.S337fs	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	447	CH1.|Pro-rich.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ATAGCAGGATTGGGGGGCCCAG	0.569													8	791	---	---	---	---					
ASH1L	55870	broad.mit.edu	37	1	155408568	155408569	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:155408568_155408569insG	ENST00000368346.3	-	5	6016_6017	c.5377_5378insC	c.(5377-5379)tcafs	p.S1793fs	ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.S1793fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1793					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	p.H1793Y(1)		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)			CTTGATATGATGGGGGGAACAG	0.446													9	504	---	---	---	---					
BCAN	63827	broad.mit.edu	37	1	156628493	156628494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:156628493_156628494insC	ENST00000329117.4	+	13	2932_2933	c.2596_2597insC	c.(2596-2598)cccfs	p.P866fs	BCAN_ENST00000496038.1_3'UTR|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	866	Sushi.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCGTTGGGAGGCCCCCCAGATC	0.604													8	504	---	---	---	---					
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													14	225	---	---	---	---					
KIRREL	55243	broad.mit.edu	37	1	158059509	158059510	+	Splice_Site	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:158059509_158059510insC	ENST00000368172.1	+	6	627_628	c.613_splice	c.e6-1	p.GP205_splice	KIRREL_ENST00000416935.2_Splice_Site_p.GP291_splice|KIRREL_ENST00000392272.2_Splice_Site_p.GP288_splice|KIRREL_ENST00000360089.4_Splice_Site_p.GP227_splice|KIRREL_ENST00000359209.6_Splice_Site_p.GP391_splice|KIRREL_ENST00000368173.3_Splice_Site_p.GP407_splice			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	391	Ig-like C2-type 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TGCTTGCAGGGCCCCCCATCAT	0.579													14	842	---	---	---	---					
IGSF9	57549	broad.mit.edu	37	1	159900127	159900128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:159900127_159900128insC	ENST00000368094.1	-	15	2112_2113	c.1915_1916insG	c.(1915-1917)actfs	p.T639fs	IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.T623fs|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	639	Fibronectin type-III 2.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGCAGGAGTACCCCCCGGGGT	0.673													18	1169	---	---	---	---					
IGSF9	57549	broad.mit.edu	37	1	159904586	159904587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:159904586_159904587insG	ENST00000368094.1	-	7	896_897	c.699_700insC	c.(697-702)ccagaafs	p.E234fs	IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.E234fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	234	Ig-like 3.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGCTGTTCTTGGGGGGCACCA	0.569													30	939	---	---	---	---					
IGSF9	57549	broad.mit.edu	37	1	159912845	159912846	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:159912845_159912846insG	ENST00000368094.1	-	3	351_352	c.154_155insC	c.(154-156)gcafs	p.A52fs	IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.A52fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	52	Ig-like 1.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GATGACATGCAgggggggccgg	0.634													8	143	---	---	---	---					
ATP1A2	477	broad.mit.edu	37	1	160093110	160093111	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:160093110_160093111insG	ENST00000361216.3	+	4	374_375	c.285_286insG	c.(283-288)ttggggfs	p.LG95fs	ATP1A2_ENST00000392233.3_Frame_Shift_Ins_p.LG95fs|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	95					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	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)			GTCAGCTTTTCGGGGGGTTCTC	0.604													10	1573	---	---	---	---					
ADAMTS4	9507	broad.mit.edu	37	1	161163067	161163068	+	Frame_Shift_Ins	INS	-	-	G	rs142227379		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:161163067_161163068insG	ENST00000367996.4	-	7	2274_2275	c.1846_1847insC	c.(1846-1848)ggafs	p.G616fs		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	616	Cys-rich.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			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)			GCACTGGTCCTGGGGGGCCACG	0.644													12	571	---	---	---	---					
ADCY10	55811	broad.mit.edu	37	1	167865905	167865906	+	Frame_Shift_Ins	INS	-	-	G	rs35604923		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:167865905_167865906insG	ENST00000367848.1	-	7	887_888	c.390_391insC	c.(388-393)ccatttfs	p.F131fs	ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.F223fs|ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.F70fs			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													16	494	---	---	---	---					
F5	2153	broad.mit.edu	37	1	169483601	169483602	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:169483601_169483602delTC	ENST00000367796.3	-	25	6840_6841	c.6639_6640delGA	c.(6637-6642)tgatfs	p.WN2213fs	F5_ENST00000495481.1_5'UTR|F5_ENST00000367797.3_Frame_Shift_Del_p.WN2208fs			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2208	F5/8 type C 2.			A -> T (in Ref. 1; AAA52424).	cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ATACTTTGATTCCATGTTTTAG	0.376													7	201	---	---	---	---					
F5	2153	broad.mit.edu	37	1	169528487	169528488	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:169528487_169528488insG	ENST00000367796.3	-	5	834_835	c.633_634insC	c.(631-636)attgctfs	p.A212fs	F5_ENST00000367797.3_Frame_Shift_Ins_p.A212fs|F5_ENST00000546081.1_Frame_Shift_Ins_p.A75fs			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	212	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AATAGTAGCACGATTTGCTTGT	0.441													14	597	---	---	---	---					
TNN	63923	broad.mit.edu	37	1	175096158	175096159	+	Frame_Shift_Ins	INS	-	-	C	rs59588723	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													11	710	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176563963	176563964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:176563963_176563964insG	ENST00000367662.3	+	3	2387_2388	c.1223_1224insG	c.(1222-1224)cggfs	p.R408fs	PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.R408fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	408					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.L408fs*49(2)|p.L408L(2)		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						TCTTTGCTCCTGGGGGGAGACA	0.574													11	425	---	---	---	---					
CACNA1E	777	broad.mit.edu	37	1	181549749	181549750	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:181549749_181549750insC	ENST00000526775.1	+	6	953_954	c.788_789insC	c.(787-789)gccfs	p.A263fs	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_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_ENST00000367573.2_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													16	2425	---	---	---	---					
DHX9	1660	broad.mit.edu	37	1	182852697	182852698	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:182852697_182852698insC	ENST00000367549.3	+	26	3297_3298	c.3187_3188insC	c.(3187-3189)cccfs	p.P1063fs	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1063				T -> P (in Ref. 1; AAB48855 and 2; CAA71668).	CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GACTTTAGTCACCCCCCTGCAG	0.441													10	958	---	---	---	---					
NMNAT2	23057	broad.mit.edu	37	1	183255841	183255842	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:183255841_183255842insG	ENST00000287713.6	-	5	737_738	c.403_404insC	c.(403-405)gccfs	p.A135fs	NMNAT2_ENST00000473046.1_5'UTR|NMNAT2_ENST00000294868.4_Frame_Shift_Ins_p.A130fs	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	135					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						GTAAATGGGCTGGGGGGTCTCG	0.540													8	1072	---	---	---	---					
COLGALT2	23127	broad.mit.edu	37	1	183938467	183938468	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:183938467_183938468insG	ENST00000361927.4	-	5	1138_1139	c.767_768insC	c.(766-768)ccafs	p.P256fs	COLGALT2_ENST00000546159.1_Frame_Shift_Ins_p.P256fs	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		AGTCCTGGTGTGGGGGGTAGAA	0.535													7	491	---	---	---	---					
SWT1	54823	broad.mit.edu	37	1	185191025	185191026	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:185191025_185191026insA	ENST00000367500.4	+	15	2331_2332	c.2166_2167insA	c.(2164-2169)acaaaafs	p.TK722fs	SWT1_ENST00000367501.3_Frame_Shift_Ins_p.TK722fs	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	722										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						ACACAGTGACTAAAAAGCAGGA	0.376													7	326	---	---	---	---					
CDC73	79577	broad.mit.edu	37	1	193091457	193091458	+	Frame_Shift_Ins	INS	-	-	G	rs121434263		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:193091457_193091458insG	ENST00000367435.3	+	1	311_312	c.127_128insG	c.(127-129)gggfs	p.G43fs		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	43					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	p.W43*(3)|p.?(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						CTATGTTGTTTGGGGGTAAGTC	0.579											OREG0014058	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	1173	---	---	---	---					
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													29	970	---	---	---	---					
NAV1	89796	broad.mit.edu	37	1	201779175	201779176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:201779175_201779176insC	ENST00000367296.4	+	23	4923_4924	c.4503_4504insC	c.(4501-4506)gaccccfs	p.DP1501fs	NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs	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													14	966	---	---	---	---					
FMOD	2331	broad.mit.edu	37	1	203316599	203316600	+	Frame_Shift_Ins	INS	-	-	C	rs139730140	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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	445	---	---	---	---					
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-255)accfs	p.T85fs	ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367218.3_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													17	385	---	---	---	---					
PIK3C2B	5287	broad.mit.edu	37	1	204438071	204438072	+	Frame_Shift_Ins	INS	-	-	G	rs115574296	by1000genomes	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													41	380	---	---	---	---					
CNTN2	6900	broad.mit.edu	37	1	205033832	205033833	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:205033832_205033833insCC	ENST00000331830.4	+	12	1757_1758	c.1473_1474insCC	c.(1471-1476)gaacttfs	p.EL491fs		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	491	Ig-like C2-type 5.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCTTTGCTGAGAACTTCATGGG	0.540													31	852	---	---	---	---					
RBBP5	5929	broad.mit.edu	37	1	205065949	205065950	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:205065949_205065950insG	ENST00000264515.6	-	12	1397_1398	c.1256_1257insC	c.(1255-1257)cccfs	p.P419fs	RBBP5_ENST00000367164.1_Frame_Shift_Ins_p.P419fs	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	419					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CTGCATCCGGTGGGGGGCCGTA	0.505													16	781	---	---	---	---					
C4BPB	725	broad.mit.edu	37	1	207263775	207263776	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:207263775_207263776insT	ENST00000243611.5	+	2	475_476	c.181_182insT	c.(181-183)tttfs	p.F61fs	C4BPB_ENST00000367078.3_Frame_Shift_Ins_p.F61fs|C4BPB_ENST00000367076.3_Frame_Shift_Ins_p.F60fs|C4BPB_ENST00000391923.1_Frame_Shift_Ins_p.F61fs|C4BPB_ENST00000451804.2_Frame_Shift_Ins_p.F51fs	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	61	Sushi 1.				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						AAAGAAGACCCTTTTTTGCAAT	0.441													8	626	---	---	---	---					
CAMK1G	57172	broad.mit.edu	37	1	209782336	209782337	+	Frame_Shift_Ins	INS	-	-	C	rs144298174		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:209782336_209782337insC	ENST00000009105.1	+	8	892_893	c.647_648insC	c.(646-648)tccfs	p.S216fs	CAMK1G_ENST00000361322.2_Frame_Shift_Ins_p.S216fs|CAMK1G_ENST00000494990.1_3'UTR			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	216	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CTCTGTGGATACCCCCCATTCT	0.510													8	661	---	---	---	---					
IRF6	3664	broad.mit.edu	37	1	209974763	209974764	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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)			8	220	---	---	---	---					
DIEXF	27042	broad.mit.edu	37	1	210014266	210014267	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													9	668	---	---	---	---					
FAM71A	149647	broad.mit.edu	37	1	212799035	212799036	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:212799035_212799036insG	ENST00000294829.3	+	1	1247_1248	c.816_817insG	c.(814-819)acggggfs	p.TG272fs	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	272										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		AGCCAGCAACAGGGGGGATTAA	0.559													8	349	---	---	---	---					
PTPN14	5784	broad.mit.edu	37	1	214557490	214557491	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:214557490_214557491insG	ENST00000366956.5	-	13	1901_1902	c.1707_1708insC	c.(1705-1710)ccacccfs	p.P570fs	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	570	Poly-Pro.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGCCGTGGGTAGGGGGGCGGTG	0.653													7	281	---	---	---	---					
PARP1	142	broad.mit.edu	37	1	226568817	226568818	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:226568817_226568818insC	ENST00000366794.5	-	9	1394_1395	c.1251_1252insG	c.(1249-1254)ggagttfs	p.V418fs		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	418	Automodification domain.|BRCT.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CCCGTCAACTTCCCCCCGAGTT	0.485								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					8	443	---	---	---	---					
CDC42BPA	8476	broad.mit.edu	37	1	227300374	227300375	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:227300374_227300375insT	ENST00000366769.3	-	13	3178_3179	c.1887_1888insA	c.(1885-1890)aaagctfs	p.A630fs	CDC42BPA_ENST00000334218.5_Frame_Shift_Ins_p.A630fs|CDC42BPA_ENST00000366765.3_Frame_Shift_Ins_p.A630fs|CDC42BPA_ENST00000366764.2_Frame_Shift_Ins_p.A630fs|CDC42BPA_ENST00000366766.2_Frame_Shift_Ins_p.A630fs|CDC42BPA_ENST00000366767.3_Intron|CDC42BPA_ENST00000535525.1_Frame_Shift_Ins_p.A630fs	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	630					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CTACTAACCTCTTTTTTGGCTC	0.371													7	386	---	---	---	---					
TRIM17	51127	broad.mit.edu	37	1	228596934	228596935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000456946.2_Frame_Shift_Ins_p.H274fs|TRIM17_ENST00000295033.3_Frame_Shift_Ins_p.H274fs			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													21	263	---	---	---	---					
ACTA1	58	broad.mit.edu	37	1	229567546	229567547	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													13	394	---	---	---	---					
SIPA1L2	57568	broad.mit.edu	37	1	232650637	232650638	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:232650637_232650638insG	ENST00000366630.1	-	2	806_807	c.448_449insC	c.(448-450)aagfs	p.K150fs	SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.K150fs			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	150					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAGTCCTCTTTGGGGGGAATGG	0.490													12	840	---	---	---	---					
MAP10	54627	broad.mit.edu	37	1	232940911	232940912	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:232940911_232940912insA	ENST00000418460.1	+	1	269_270	c.142_143insA	c.(142-144)aaafs	p.K48fs		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		AACCATTACCCAAAAAACTCAC	0.371													13	877	---	---	---	---					
TARBP1	6894	broad.mit.edu	37	1	234556531	234556532	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:234556531_234556532insT	ENST00000040877.1	-	21	3470_3471	c.3471_3472insA	c.(3469-3474)aagctafs	p.L1158fs		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1158					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACATAGTAGCGTTTTTTGGACT	0.366													7	319	---	---	---	---					
RBM34	23029	broad.mit.edu	37	1	235323946	235323947	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:235323946_235323947insT	ENST00000408888.3	-	3	474_475	c.244_245insA	c.(244-246)gaafs	p.E82fs	RBM34_ENST00000366606.3_Frame_Shift_Ins_p.E77fs			P42696	RBM34_HUMAN	RNA binding motif protein 34	82						nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			ATTCCGTTTCGTTTTTTTGATG	0.371													10	358	---	---	---	---					
HEATR1	55127	broad.mit.edu	37	1	236718038	236718039	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:236718038_236718039insA	ENST00000366582.3	-	42	6051_6052	c.5937_5938insT	c.(5935-5940)ttactcfs	p.LL1979fs	HEATR1_ENST00000366581.2_Frame_Shift_Ins_p.LL1898fs	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1979					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTTTCAGAGTCAAAAAATGCTT	0.307													10	817	---	---	---	---					
TRIM58	25893	broad.mit.edu	37	1	248039439	248039440	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:248039439_248039440insG	ENST00000366481.3	+	6	1157_1158	c.1109_1110insG	c.(1108-1110)aggfs	p.R370fs	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	370	B30.2/SPRY.					intracellular	zinc ion binding	p.K370R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTGCCAAGAAAGGGGGAAACCA	0.564													10	1194	---	---	---	---					
OR2T3	343173	broad.mit.edu	37	1	248637291	248637292	+	Frame_Shift_Ins	INS	-	-	C	rs1770109	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:248637291_248637292insC	ENST00000359594.2	+	1	665_666	c.640_641insC	c.(640-642)cccfs	p.P214fs		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A214T(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATGCTTCTCGCCCCCATCATG	0.559													7	585	---	---	---	---					
TPO	7173	broad.mit.edu	37	2	1507747	1507748	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:1507747_1507748insC	ENST00000345913.4	+	14	2505_2506	c.2414_2415insC	c.(2413-2415)cccfs	p.P805fs	TPO_ENST00000337415.3_Frame_Shift_Ins_p.P805fs|TPO_ENST00000349624.3_Frame_Shift_Ins_p.P632fs|TPO_ENST00000382201.3_Frame_Shift_Ins_p.P748fs|TPO_ENST00000346956.3_Intron|TPO_ENST00000329066.4_Frame_Shift_Ins_p.P805fs|TPO_ENST00000382198.1_Frame_Shift_Ins_p.P632fs|TPO_ENST00000497517.2_3'UTR	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	805	EGF-like; calcium-binding (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.H805L(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GACGGTGCCCACCCCCCCTGCC	0.644													7	224	---	---	---	---					
PXDN	7837	broad.mit.edu	37	2	1652959	1652960	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:1652959_1652960insG	ENST00000252804.4	-	17	2642_2643	c.2592_2593insC	c.(2590-2595)ccatgafs	p.*865fs		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	865					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGGGAGTCATTGGGGGGGATCA	0.653													8	84	---	---	---	---					
ASAP2	8853	broad.mit.edu	37	2	9528642	9528643	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:9528642_9528643insC	ENST00000281419.3	+	22	2690_2691	c.2350_2351insC	c.(2350-2352)cccfs	p.P784fs	ASAP2_ENST00000491413.1_3'UTR|ASAP2_ENST00000315273.4_Frame_Shift_Ins_p.P784fs	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	784	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CACCACCAGCGCCCCCCCGCTT	0.579													7	72	---	---	---	---					
GREB1	9687	broad.mit.edu	37	2	11738052	11738053	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													9	439	---	---	---	---					
TRIB2	28951	broad.mit.edu	37	2	12863619	12863620	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:12863619_12863620insG	ENST00000155926.4	+	2	1923_1924	c.504_505insG	c.(502-507)gaggggfs	p.EG168fs	TRIB2_ENST00000405331.3_Frame_Shift_Ins_p.EG168fs|TRIB2_ENST00000381465.2_Frame_Shift_Ins_p.EG32fs	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	168	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.D168D(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACTGCCATGACGGGGGGCTGGT	0.579													8	471	---	---	---	---					
TP53I3	9540	broad.mit.edu	37	2	24303725	24303726	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:24303725_24303726insT	ENST00000238721.4	-	3	1436_1437	c.582_583insA	c.(580-585)aaaggafs	p.G195fs	TP53I3_ENST00000417886.1_5'UTR|FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000313482.4_Frame_Shift_Ins_p.G195fs|TP53I3_ENST00000407482.1_Frame_Shift_Ins_p.G195fs|TP53I3_ENST00000335934.4_Frame_Shift_Ins_p.G195fs	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	195					induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGAAATCCTCTTTTTTGTAAT	0.446													8	1089	---	---	---	---					
DNMT3A	1788	broad.mit.edu	37	2	25523008	25523009	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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								25	959	---	---	---	---					
DTNB	1838	broad.mit.edu	37	2	25754395	25754396	+	Frame_Shift_Ins	INS	-	-	G	rs143218564	by1000genomes	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:25754395_25754396insG	ENST00000406818.3	-	9	1196_1197	c.947_948insC	c.(946-948)ccafs	p.P316fs	DTNB_ENST00000405222.1_Frame_Shift_Ins_p.P316fs|DTNB_ENST00000407186.1_Frame_Shift_Ins_p.P316fs|DTNB_ENST00000496972.2_Frame_Shift_Ins_p.P259fs|DTNB_ENST00000545439.1_Frame_Shift_Ins_p.P112fs|DTNB_ENST00000407038.3_Frame_Shift_Ins_p.P316fs|DTNB_ENST00000404103.3_Frame_Shift_Ins_p.P316fs|DTNB_ENST00000288642.8_Frame_Shift_Ins_p.P316fs|DTNB_ENST00000407661.3_Frame_Shift_Ins_p.P316fs	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	316						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAACAGGATGCGGGGGTTCTCT	0.455													7	637	---	---	---	---					
AGBL5	60509	broad.mit.edu	37	2	27292516	27292517	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:27292516_27292517insC	ENST00000360131.4	+	14	2590_2591	c.2431_2432insC	c.(2431-2433)cccfs	p.P811fs		NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	811					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)					CACATCCCCTACCCCCCGGACC	0.644													10	384	---	---	---	---					
CAD	790	broad.mit.edu	37	2	27456981	27456982	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:27456981_27456982insC	ENST00000264705.4	+	22	3667_3668	c.3505_3506insC	c.(3505-3507)cccfs	p.P1169fs	CAD_ENST00000403525.1_Frame_Shift_Ins_p.P1106fs	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1169	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GACGCTGGTGACCCCCCCACAA	0.574													16	280	---	---	---	---					
CAD	790	broad.mit.edu	37	2	27460371	27460372	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:27460371_27460372insC	ENST00000264705.4	+	28	4683_4684	c.4521_4522insC	c.(4519-4524)cgccccfs	p.RP1507fs	CAD_ENST00000403525.1_Frame_Shift_Ins_p.RP1444fs	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1507	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CTAATACCCGGCCCCCCATCAT	0.614													7	218	---	---	---	---					
SLC30A3	7781	broad.mit.edu	37	2	27479379	27479380	+	Frame_Shift_Ins	INS	-	-	G	rs146572471	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:27479379_27479380insG	ENST00000233535.4	-	7	1244_1245	c.892_893insC	c.(892-894)caafs	p.Q298fs	SLC30A3_ENST00000447008.2_Frame_Shift_Ins_p.Q293fs	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	298					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	p.R298H(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCACATTGCGGGGGGTACCT	0.604													20	711	---	---	---	---					
GTF3C2	2976	broad.mit.edu	37	2	27549709	27549710	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:27549709_27549710insC	ENST00000359541.2	-	19	2997_2998	c.2568_2569insG	c.(2566-2571)ggagtcfs	p.V857fs	GTF3C2_ENST00000264720.3_Frame_Shift_Ins_p.V857fs			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	857						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCCCTGACTGCCCCCCAGATA	0.535													7	280	---	---	---	---					
XDH	7498	broad.mit.edu	37	2	31572969	31572970	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:31572969_31572970insC	ENST00000379416.3	-	25	2799_2800	c.2751_2752insG	c.(2749-2754)ggcccafs	p.GP917fs		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	917					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.G917G(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	ATCCCCTGGGGCCCCCCAAAGC	0.569													8	632	---	---	---	---					
CRIM1	51232	broad.mit.edu	37	2	36764627	36764628	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:36764627_36764628insC	ENST00000280527.2	+	14	2928_2929	c.2561_2562insC	c.(2560-2562)tccfs	p.S854fs	AC007401.2_ENST00000406220.1_Intron	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	854	VWFC 6.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				ACCGTCAGCTGCCCCCCTCTGC	0.584													7	122	---	---	---	---					
SLC8A1	6546	broad.mit.edu	37	2	40366704	40366705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:40366704_40366705insG	ENST00000406785.1	-	7	2462_2463	c.2273_2274insC	c.(2272-2274)cacfs	p.H758fs	SLC8A1_ENST00000403092.1_Frame_Shift_Ins_p.H794fs|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Ins_p.H789fs|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000542024.1_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000406391.2_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000402441.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000405901.3_Frame_Shift_Ins_p.H789fs|SLC8A1_ENST00000408028.2_Frame_Shift_Ins_p.H786fs|SLC8A1_ENST00000332839.4_Frame_Shift_Ins_p.H794fs|SLC8A1_ENST00000405269.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000435515.1_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													14	1007	---	---	---	---					
SIX3	6496	broad.mit.edu	37	2	45169256	45169257	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:45169256_45169257insC	ENST00000260653.3	+	1	355_356	c.13_14insC	c.(13-15)cccfs	p.P5fs		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	5					visual perception	nucleus				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGTATTCCGCTCCCCCCTAGAC	0.584													11	752	---	---	---	---					
CCDC85A	114800	broad.mit.edu	37	2	56420367	56420368	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:56420367_56420368insG	ENST00000407595.2	+	2	1534_1535	c.1032_1033insG	c.(1030-1035)ctggggfs	p.LG344fs	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	344	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AACACGCTCTTGGGGGGAGCCT	0.624													11	252	---	---	---	---					
BCL11A	53335	broad.mit.edu	37	2	60688968	60688969	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:60688968_60688969insG	ENST00000335712.6	-	4	1305_1306	c.1078_1079insC	c.(1078-1080)cccfs	p.P360fs	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Frame_Shift_Ins_p.P360fs|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Frame_Shift_Ins_p.P326fs|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000358510.4_Frame_Shift_Ins_p.P326fs	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	360	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CAGAGGAGGGAGGGGGGGCGTC	0.634			T	IGH@	B-CLL								21	484	---	---	---	---					
ANTXR1	84168	broad.mit.edu	37	2	69409763	69409764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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				16	693	---	---	---	---					
NAT8	9027	broad.mit.edu	37	2	73868515	73868516	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													12	985	---	---	---	---					
NAT8	9027	broad.mit.edu	37	2	73868608	73868609	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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	698	---	---	---	---					
TET3	200424	broad.mit.edu	37	2	74329151	74329152	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:74329151_74329152insG	ENST00000409262.3	+	9	4831_4832	c.4831_4832insG	c.(4831-4833)gggfs	p.G1611fs		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1611							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAAGCGCAAGTGGGGGGGCACT	0.688													16	141	---	---	---	---					
SLC4A5	57835	broad.mit.edu	37	2	74480126	74480127	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:74480126_74480127insG	ENST00000394019.2	-	15	1639_1640	c.1242_1243insC	c.(1240-1245)ccagaafs	p.E415fs	SLC4A5_ENST00000377632.1_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000377634.4_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000359484.4_Frame_Shift_Ins_p.E351fs|SLC4A5_ENST00000357822.5_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000358683.4_Frame_Shift_Ins_p.E351fs|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000346834.4_Frame_Shift_Ins_p.E415fs|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_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	458	---	---	---	---					
DCTN1	1639	broad.mit.edu	37	2	74593376	74593377	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:74593376_74593377insG	ENST00000361874.3	-	23	3071_3072	c.2754_2755insC	c.(2752-2757)ccgcaafs	p.Q919fs	DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.Q899fs|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.Q882fs|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.Q912fs|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.Q902fs|DCTN1_ENST00000495643.1_5'UTR	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	919					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTACCTTGCTGGGGGGCCGCT	0.559													9	861	---	---	---	---					
WBP1	23559	broad.mit.edu	37	2	74687542	74687543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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_ENST00000409737.1_Frame_Shift_Ins_p.P179fs|WBP1_ENST00000494741.1_3'UTR			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													10	170	---	---	---	---					
HK2	3099	broad.mit.edu	37	2	75104377	75104378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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	1251	---	---	---	---					
HK2	3099	broad.mit.edu	37	2	75113706	75113707	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:75113706_75113707insG	ENST00000290573.2	+	15	2725_2726	c.2125_2126insG	c.(2125-2127)gggfs	p.G709fs	HK2_ENST00000409174.1_Frame_Shift_Ins_p.G681fs	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	709	Catalytic.				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						GAACATGGAATGGGGGGCCTTC	0.564													8	527	---	---	---	---					
KCMF1	56888	broad.mit.edu	37	2	85280407	85280408	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:85280407_85280408insG	ENST00000409785.3	+	7	1380_1381	c.1021_1022insG	c.(1021-1023)gggfs	p.G341fs		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	341						intracellular	ligase activity|zinc ion binding			ovary(3)	3						TGAGGATGATCGGGGGGAGATG	0.450													8	205	---	---	---	---					
RETSAT	54884	broad.mit.edu	37	2	85578846	85578847	+	Frame_Shift_Ins	INS	-	-	C	rs148610568		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:85578846_85578847insC	ENST00000295802.4	-	2	423_424	c.311_312insG	c.(310-312)gtgfs	p.V104fs	RETSAT_ENST00000263854.6_Frame_Shift_Ins_p.V104fs|RETSAT_ENST00000457495.2_Intron	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	104					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TATGACAGCAGCCCCCTGCCTT	0.525													8	2912	---	---	---	---					
USP39	10713	broad.mit.edu	37	2	85863227	85863228	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:85863227_85863228insG	ENST00000323701.6	+	7	1011_1012	c.1001_1002insG	c.(1000-1002)cggfs	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|USP39_ENST00000409766.3_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													14	662	---	---	---	---					
USP39	10713	broad.mit.edu	37	2	85866422	85866423	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:85866422_85866423insC	ENST00000323701.6	+	9	1202_1203	c.1192_1193insC	c.(1192-1194)cccfs	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|USP39_ENST00000409766.3_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													10	755	---	---	---	---					
ATOH8	84913	broad.mit.edu	37	2	85991255	85991256	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:85991255_85991256delCA	ENST00000306279.3	+	2	1206_1207	c.910_911delCA	c.(910-912)gfs	p.Q304fs	ATOH8_ENST00000463422.1_3'UTR	NM_032827.6	NP_116216.2	Q96SQ7	ATOH8_HUMAN	atonal homolog 8 (Drosophila)	304					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CGAGTGTGTGCAGCGCTGCACC	0.634													12	431	---	---	---	---					
POLR1A	25885	broad.mit.edu	37	2	86258575	86258576	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:86258575_86258576insT	ENST00000263857.6	-	30	4833_4834	c.4455_4456insA	c.(4453-4458)aaccacfs	p.NH1485fs	POLR1A_ENST00000409681.1_Intron			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1485					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CTGTGGGTGGGTTTCCGGGGCT	0.639													8	1818	---	---	---	---					
FER1L5	90342	broad.mit.edu	37	2	97365230	97365231	+	RNA	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:97365230_97365231insG	ENST00000457909.1	+	0	4113							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CCGGTGAGGGAGGGGGGCACAG	0.579													9	601	---	---	---	---					
IL1R2	7850	broad.mit.edu	37	2	102638681	102638682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													18	1168	---	---	---	---					
IL1R2	7850	broad.mit.edu	37	2	102644748	102644749	+	Frame_Shift_Ins	INS	-	-	G	rs145225100		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:102644748_102644749insG	ENST00000332549.3	+	9	1320_1321	c.1091_1092insG	c.(1090-1092)tggfs	p.W364fs	IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.W364fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	364					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)	TTCTTGGTTTTGGGGGGAATAT	0.515													15	483	---	---	---	---					
EDAR	10913	broad.mit.edu	37	2	109539836	109539837	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:109539836_109539837insG	ENST00000409271.1	-	6	872_873	c.429_430insC	c.(427-432)ccacacfs	p.H144fs	EDAR_ENST00000258443.2_Frame_Shift_Ins_p.H144fs|EDAR_ENST00000376651.1_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													16	557	---	---	---	---					
SAP130	79595	broad.mit.edu	37	2	128707524	128707525	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:128707524_128707525insG	ENST00000357702.5	-	18	2924_2925	c.2793_2794insC	c.(2791-2796)ccttacfs	p.Y932fs	SAP130_ENST00000259235.3_Frame_Shift_Ins_p.Y897fs|SAP130_ENST00000259234.6_Frame_Shift_Ins_p.Y905fs	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	897	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AGCAAAGTAATGGGGGGTCTTG	0.460													9	1324	---	---	---	---					
POTEJ	653781	broad.mit.edu	37	2	131414398	131414399	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:131414398_131414399insC	ENST00000409602.1	+	15	2117_2118	c.2065_2066insC	c.(2065-2067)cccfs	p.P689fs		NM_001277083.1	NP_001264012.1			POTE ankyrin domain family, member J											lung(5)	5						GGGCGACGATGCCCCCCGGGCT	0.604													11	661	---	---	---	---					
POTEJ	653781	broad.mit.edu	37	2	131414453	131414454	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:131414453_131414454insG	ENST00000409602.1	+	15	2172_2173	c.2120_2121insG	c.(2119-2121)aggfs	p.R707fs		NM_001277083.1	NP_001264012.1			POTE ankyrin domain family, member J											lung(5)	5						CAGGGCATGATGGGGGGCATGC	0.624													14	1499	---	---	---	---					
TUBA3D	113457	broad.mit.edu	37	2	132238224	132238225	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:132238224_132238225insG	ENST00000321253.6	+	4	1065_1066	c.958_959insG	c.(958-960)gggfs	p.G320fs		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	320					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CATGTTGTACAGGGGGGACGTG	0.569													16	2252	---	---	---	---					
MAP3K19	80122	broad.mit.edu	37	2	135740765	135740766	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:135740765_135740766insC	ENST00000392915.1	-	9	3528_3529	c.3409_3410insG	c.(3409-3411)gggfs	p.G1137fs	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375845.3_Intron|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR					mitogen-activated protein kinase kinase kinase 19																		ttcatcgcccaccccCCAAGAT	0.376													11	277	---	---	---	---					
KCNH7	90134	broad.mit.edu	37	2	163256860	163256861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:163256860_163256861insC	ENST00000332142.5	-	10	2344_2345	c.2245_2246insG	c.(2245-2247)aagfs	p.K749fs		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	749					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.A749fs*3(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ACCTTTACTTGCCCCCCGAAAG	0.485													8	281	---	---	---	---					
SCN2A	6326	broad.mit.edu	37	2	166152508	166152509	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:166152508_166152509insT	ENST00000357398.3	+	2	465_466	c.175_176insT	c.(175-177)aaafs	p.K59fs	SCN2A_ENST00000283256.6_Frame_Shift_Ins_p.K59fs|SCN2A_ENST00000375437.2_Frame_Shift_Ins_p.K59fs|SCN2A_ENST00000375427.2_Frame_Shift_Ins_p.K59fs			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	59					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CTTGGAAGCAGGAAAATCTCTT	0.446													14	215	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000420519.1_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													19	258	---	---	---	---					
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR			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													15	480	---	---	---	---					
SCRN3	79634	broad.mit.edu	37	2	175264719	175264720	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:175264719_175264720insG	ENST00000272732.6	+	3	311_312	c.229_230insG	c.(229-231)gggfs	p.G77fs	SCRN3_ENST00000409673.3_Frame_Shift_Ins_p.G70fs	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	77					proteolysis		dipeptidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			AGCGTGGTTGTGGGGGGCAGAA	0.406													8	356	---	---	---	---					
OSBPL6	114880	broad.mit.edu	37	2	179255834	179255835	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:179255834_179255835insG	ENST00000190611.4	+	22	2712_2713	c.2336_2337insG	c.(2335-2337)cggfs	p.R779fs	OSBPL6_ENST00000409631.1_Frame_Shift_Ins_p.R743fs|OSBPL6_ENST00000392505.2_Frame_Shift_Ins_p.R804fs|OSBPL6_ENST00000359685.3_Frame_Shift_Ins_p.R743fs|OSBPL6_ENST00000315022.2_Frame_Shift_Ins_p.R783fs|OSBPL6_ENST00000409045.3_Frame_Shift_Ins_p.R748fs	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	779					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AATGAAGTCCAGGGGGTGGTGA	0.455													10	794	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179485124	179485125	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:179485124_179485125insT	ENST00000589042.1	-	248	46347_46348	c.46123_46124insA	c.(46123-46125)tggfs	p.W15375fs	TTN_ENST00000591111.1_Frame_Shift_Ins_p.W13734fs|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.W6310fs|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.W6435fs|TTN_ENST00000342175.6_Frame_Shift_Ins_p.W6502fs|TTN_ENST00000342992.6_Frame_Shift_Ins_p.W12807fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13734	Ig-like 97.						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)			ATCTTGTCCAGCAGTGACAATG	0.436													36	270	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)gggfs	p.G559fs	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs	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	589	---	---	---	---					
SLC40A1	30061	broad.mit.edu	37	2	190430272	190430273	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:190430272_190430273insG	ENST00000261024.2	-	6	993_994	c.567_568insC	c.(565-570)cctggcfs	p.G190fs		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	190					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			CCAACAGCCATGGGGGCTAAGA	0.485													7	628	---	---	---	---					
MFSD6	54842	broad.mit.edu	37	2	191301838	191301839	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													7	249	---	---	---	---					
ANKRD44	91526	broad.mit.edu	37	2	197990602	197990603	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:197990602_197990603insC	ENST00000328737.2	-	5	421_422	c.345_346insG	c.(343-348)gggcacfs	p.H116fs	ANKRD44_ENST00000337207.5_Frame_Shift_Ins_p.H116fs|ANKRD44_ENST00000450567.1_Frame_Shift_Ins_p.H116fs|ANKRD44_ENST00000282272.8_Frame_Shift_Ins_p.H133fs|ANKRD44_ENST00000539527.1_Frame_Shift_Ins_p.H69fs|ANKRD44_ENST00000409153.1_Frame_Shift_Ins_p.H141fs|ANKRD44_ENST00000409919.1_Frame_Shift_Ins_p.H141fs			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	141							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)			AAGGCTGTGCGCCCCCCTCGGT	0.559													8	385	---	---	---	---					
ADAM23	8745	broad.mit.edu	37	2	207460860	207460861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													11	184	---	---	---	---					
SPAG16	79582	broad.mit.edu	37	2	214878729	214878730	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:214878729_214878730insT	ENST00000331683.5	+	13	1550_1551	c.1455_1456insT	c.(1453-1458)gattttfs	p.DF485fs	SPAG16_ENST00000374309.3_Frame_Shift_Ins_p.DF391fs	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	485					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		ACAGCATTGAGTTTTTTCCTTT	0.366													7	594	---	---	---	---					
IGFBP2	3485	broad.mit.edu	37	2	217526638	217526640	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:217526638_217526640delCCG	ENST00000233809.4	+	3	859_861	c.730_732delCCG	c.(730-732)del	p.P244del	IGFBP2_ENST00000456764.1_In_Frame_Del_p.P100del	NM_000597.2	NP_000588.2	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2, 36kDa	244	Thyroglobulin type-1.				positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding	p.P244P(1)		endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		CATGCGCCTTCCGGATGAGCGGG	0.621													24	228	---	---	---	---					
IGFBP2	3485	broad.mit.edu	37	2	217526686	217526686	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:217526686delA	ENST00000233809.4	+	3	907	c.778delA	c.(778-780)acfs	p.N260fs	IGFBP2_ENST00000456764.1_Frame_Shift_Del_p.N116fs	NM_000597.2	NP_000588.2	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2, 36kDa	260	Thyroglobulin type-1.				positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding			endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		GCACATCCCCAACTGTGACAA	0.627													12	313	---	---	---	---					
RUFY4	285180	broad.mit.edu	37	2	218940309	218940310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:218940309_218940310insG	ENST00000374155.3	+	8	1564_1565	c.1154_1155insG	c.(1153-1155)tggfs	p.W385fs	RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000344321.7_Frame_Shift_Ins_p.W365fs|RUFY4_ENST00000441828.2_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													25	568	---	---	---	---					
RQCD1	9125	broad.mit.edu	37	2	219449377	219449378	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:219449377_219449378insT	ENST00000273064.6	+	4	738_739	c.363_364insT	c.(361-366)ccttttfs	p.PF121fs	RQCD1_ENST00000295701.5_Frame_Shift_Ins_p.PF121fs|RQCD1_ENST00000542068.1_Frame_Shift_Ins_p.PF121fs|RQCD1_ENST00000509807.2_Frame_Shift_Ins_p.PF121fs	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	121					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTTTGTACCCCTTTTTGCACAC	0.431													8	909	---	---	---	---					
FAM134A	79137	broad.mit.edu	37	2	220046975	220046976	+	Frame_Shift_Ins	INS	-	-	A	rs3731900	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:220046975_220046976insA	ENST00000430297.2	+	9	1392_1393	c.1256_1257insA	c.(1255-1257)cgafs	p.R419fs		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	419			P -> Q (in dbSNP:rs3731900).			endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGTCCCCCCCAGATGGAGTGA	0.604													7	398	---	---	---	---					
TUBA4A	7277	broad.mit.edu	37	2	220115894	220115895	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:220115894_220115895insG	ENST00000392088.2	-	4	1036_1037	c.481_482insC	c.(481-483)ggtfs	p.G161fs	TUBA4A_ENST00000248437.4_Frame_Shift_Ins_p.G176fs|TUBA4A_ENST00000498660.1_5'UTR	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	176					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTAGACACCTGGGGGGCTGGG	0.569													9	510	---	---	---	---					
ASIC4	55515	broad.mit.edu	37	2	220402687	220402688	+	Frame_Shift_Ins	INS	-	-	G	rs115824877	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:220402687_220402688insG	ENST00000358078.4	+	10	1934_1935	c.1920_1921insG	c.(1918-1923)ggggggfs	p.GG640fs	ASIC4_ENST00000347842.3_Frame_Shift_Ins_p.GG621fs			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	621						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										GAGTGGAGGGTGGGGGGGTCAG	0.629													7	79	---	---	---	---					
SLC4A3	6508	broad.mit.edu	37	2	220502412	220502413	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:220502412_220502413insC	ENST00000358055.3	+	17	3157_3158	c.2645_2646insC	c.(2644-2646)gccfs	p.A882fs	SLC4A3_ENST00000317151.3_Frame_Shift_Ins_p.A882fs|SLC4A3_ENST00000273063.6_Frame_Shift_Ins_p.A909fs|SLC4A3_ENST00000373762.3_Frame_Shift_Ins_p.A909fs|SLC4A3_ENST00000373760.2_Frame_Shift_Ins_p.A882fs			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	882	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)		CCCACCGAGGGCCCCCCCAGCC	0.644													11	248	---	---	---	---					
SLC4A3	6508	broad.mit.edu	37	2	220505167	220505168	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:220505167_220505168insG	ENST00000358055.3	+	21	3805_3806	c.3293_3294insG	c.(3292-3294)aggfs	p.R1098fs	SLC4A3_ENST00000317151.3_Frame_Shift_Ins_p.R1098fs|SLC4A3_ENST00000273063.6_Frame_Shift_Ins_p.R1125fs|SLC4A3_ENST00000373762.3_Frame_Shift_Ins_p.R1125fs|SLC4A3_ENST00000373760.2_Frame_Shift_Ins_p.R1098fs			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1098	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)		TCCATCGTCATGGGGGCTGTGC	0.609													7	1189	---	---	---	---					
NYAP2	57624	broad.mit.edu	37	2	226447071	226447072	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:226447071_226447072insC	ENST00000272907.6	+	4	1351_1352	c.938_939insC	c.(937-939)tccfs	p.S313fs	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	313	Pro-rich.																TCAGTGCCATGCCCCCCCAAGG	0.619													29	378	---	---	---	---					
COL4A4	1286	broad.mit.edu	37	2	227953486	227953487	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:227953486_227953487insG	ENST00000396625.3	-	22	1712_1713	c.1505_1506insC	c.(1504-1506)cggfs	p.R502fs	COL4A4_ENST00000329662.7_Frame_Shift_Ins_p.R502fs	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	502	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTGGAGGGCCAGGGGGGCCCAT	0.554													9	329	---	---	---	---					
SLC19A3	80704	broad.mit.edu	37	2	228563788	228563789	+	In_Frame_Ins	INS	-	-	ATC			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:228563788_228563789insATC	ENST00000258403.3	-	3	713_714	c.642_643insGAT	c.(640-645)aacagt>aaGATcagt	p.214_214N>KI	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_In_Frame_Ins_p.210_210N>KI	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	214					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	TCTAATACTGGATTCACGCTTG	0.446													10	101	---	---	---	---					
DIS3L2	129563	broad.mit.edu	37	2	233128030	233128031	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:233128030_233128031insC	ENST00000325385.7	+	13	1815_1816	c.1539_1540insC	c.(1537-1542)ctccccfs	p.LP513fs	DIS3L2_ENST00000409307.1_Frame_Shift_Ins_p.LP513fs|DIS3L2_ENST00000273009.6_Frame_Shift_Ins_p.LP513fs	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	513							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CGAAAGAGCTGCCCCCCATTTC	0.559													9	298	---	---	---	---					
EIF4E2	9470	broad.mit.edu	37	2	233431933	233431934	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:233431933_233431934insG	ENST00000409167.3	+	5	575_576	c.539_540insG	c.(538-540)tggfs	p.W180fs	EIF4E2_ENST00000409098.1_Intron|EIF4E2_ENST00000409394.1_Intron|EIF4E2_ENST00000409495.1_Frame_Shift_Ins_p.W225fs|EIF4E2_ENST00000409322.1_Intron|EIF4E2_ENST00000258416.3_Intron|EIF4E2_ENST00000409514.1_Intron			O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	0					regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAGTACGTGTTGGGGGGTTATG	0.515													11	681	---	---	---	---					
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)cccfs	p.P404fs	INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs|INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535													37	554	---	---	---	---					
DGKD	8527	broad.mit.edu	37	2	234365951	234365952	+	Frame_Shift_Ins	INS	-	-	G	rs35538077		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:234365951_234365952insG	ENST00000264057.2	+	21	2569_2570	c.2557_2558insG	c.(2557-2559)gggfs	p.G853fs	DGKD_ENST00000409813.3_Frame_Shift_Ins_p.G809fs	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	853					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AACCAACTTCTGGGGGGGTACC	0.579													11	217	---	---	---	---					
UGT1A5	54579	broad.mit.edu	37	2	234622465	234622466	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:234622465_234622466insG	ENST00000373414.3	+	1	828_829	c.828_829insG	c.(826-831)atggggfs	p.MG276fs	UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron	NM_019078.1	NP_061951.1														cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		TGGTCTTCATTGGGGGCATCAA	0.475													7	1054	---	---	---	---					
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													17	269	---	---	---	---					
PASK	23178	broad.mit.edu	37	2	242082433	242082434	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:242082433_242082434insC	ENST00000403638.3	-	2	105_106	c.14_15insG	c.(13-15)gttfs	p.V5fs	PASK_ENST00000544142.1_5'UTR|PASK_ENST00000405260.1_Frame_Shift_Ins_p.V5fs|PASK_ENST00000539818.1_Intron|PASK_ENST00000234040.4_Frame_Shift_Ins_p.V5fs|PASK_ENST00000358649.4_Frame_Shift_Ins_p.V5fs	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	5					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AGGCTGTTAAGCCCCCGTCCTC	0.530													7	2424	---	---	---	---					
PPP1R7	5510	broad.mit.edu	37	2	242092998	242092999	+	Frame_Shift_Ins	INS	-	-	G	rs140300724		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:242092998_242092999insG	ENST00000234038.6	+	2	634_635	c.160_161insG	c.(160-162)gggfs	p.G54fs	PPP1R7_ENST00000401987.1_Intron|PPP1R7_ENST00000272983.8_Intron|PPP1R7_ENST00000407025.1_Frame_Shift_Ins_p.G54fs|PPP1R7_ENST00000406106.3_Frame_Shift_Ins_p.G54fs|PPP1R7_ENST00000404405.3_Frame_Shift_Ins_p.G54fs|PPP1R7_ENST00000402734.1_Intron	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	54						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		TGGGGAGGAGCGGGGGGAGGAG	0.629													15	757	---	---	---	---					
HDLBP	3069	broad.mit.edu	37	2	242179466	242179467	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:242179466_242179467insC	ENST00000391975.1	-	18	2467_2468	c.2240_2241insG	c.(2239-2241)gggfs	p.G747fs	HDLBP_ENST00000310931.4_Frame_Shift_Ins_p.G747fs|HDLBP_ENST00000391976.2_Frame_Shift_Ins_p.G747fs|HDLBP_ENST00000427183.2_Frame_Shift_Ins_p.G714fs	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	747	KH 9.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GAATTTTGCCGCCCCCCTTGCC	0.545													9	864	---	---	---	---					
SRGAP3	9901	broad.mit.edu	37	3	9034599	9034600	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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								21	336	---	---	---	---					
RP11-380O24.1	0	broad.mit.edu	37	3	9390686	9390687	+	RNA	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:9390686_9390687insC	ENST00000491930.2	-	0	190				RP11-380O24.1_ENST00000518331.1_RNA																							CATGGCAACAGCCCCCCGGGCA	0.520													9	600	---	---	---	---					
CIDEC	63924	broad.mit.edu	37	3	9908868	9908869	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:9908868_9908869insG	ENST00000336832.2	-	6	805_806	c.666_667insC	c.(664-669)ccagggfs	p.G223fs	CIDEC_ENST00000455015.1_Frame_Shift_Ins_p.G149fs|CIDEC_ENST00000443115.1_Frame_Shift_Ins_p.R107fs|CIDEC_ENST00000430427.1_Frame_Shift_Ins_p.G233fs|CIDEC_ENST00000423850.1_Frame_Shift_Ins_p.G149fs|CIDEC_ENST00000383817.1_Frame_Shift_Ins_p.R107fs	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	223					apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					GCCTTGCCCTTGGGGGGCTGCC	0.604													10	1003	---	---	---	---					
NUP210	23225	broad.mit.edu	37	3	13363203	13363204	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:13363203_13363204insC	ENST00000254508.5	-	36	5129_5130	c.5047_5048insG	c.(5047-5049)cgafs	p.R1683fs		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1683					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GGGCACCTCGGCCCCCACCTGC	0.604													10	947	---	---	---	---					
RFTN1	23180	broad.mit.edu	37	3	16419475	16419476	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:16419475_16419476insT	ENST00000334133.4	-	5	847_848	c.575_576insA	c.(574-576)agcfs	p.S192fs	RFTN1_ENST00000432519.1_Frame_Shift_Ins_p.S156fs	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	192						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CCCCACGTGCGTTTTTTGCATC	0.574													8	318	---	---	---	---					
THRB	7068	broad.mit.edu	37	3	24164402	24164403	+	Frame_Shift_Ins	INS	-	-	G	rs121918687		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:24164402_24164403insG	ENST00000396671.2	-	11	1706_1707	c.1358_1359insC	c.(1357-1359)cttfs	p.L453fs	THRB_ENST00000356447.4_Frame_Shift_Ins_p.L453fs|THRB_ENST00000280696.5_Frame_Shift_Ins_p.L468fs|THRB_ENST00000416420.1_Frame_Shift_Ins_p.L453fs	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	453	Interaction with NR2F6.|Ligand-binding.		P -> H (in GTHR).|P -> L (in GTHR).|P -> S (in GTHR).|P -> T (in GTHR; dbSNP:rs28933408).		regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	CCAAGAACAAAGGGGGGAAGAG	0.480													11	355	---	---	---	---					
TRIM71	131405	broad.mit.edu	37	3	32932082	32932083	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:32932082_32932083insC	ENST00000383763.4	+	4	1449_1450	c.1386_1387insC	c.(1384-1389)acccccfs	p.TP462fs		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	462					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCATGTTCACACCCCCCGATCA	0.619													14	427	---	---	---	---					
GLB1	2720	broad.mit.edu	37	3	33038564	33038565	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:33038564_33038565insT	ENST00000307363.5	-	16	2150_2151	c.2006_2007insA	c.(2005-2007)aaafs	p.K669fs	GLB1_ENST00000307377.8_Frame_Shift_Ins_p.K538fs|GLB1_ENST00000445488.2_Frame_Shift_Ins_p.K717fs|GLB1_ENST00000399402.3_Frame_Shift_Ins_p.K639fs	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	669					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				ATGAATCTTTGTTTTTTTGCGG	0.480													8	387	---	---	---	---					
MLH1	4292	broad.mit.edu	37	3	37070348	37070349	+	Frame_Shift_Ins	INS	-	-	C	rs63750855		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:37070348_37070349insC	ENST00000231790.2	+	13	1699_1700	c.1483_1484insC	c.(1483-1485)cccfs	p.P495fs	MLH1_ENST00000435176.1_Frame_Shift_Ins_p.P397fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000539477.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000536378.1_Frame_Shift_Ins_p.P254fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	495	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.T495A(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGCAGCTTGTACCCCCCGGAGA	0.470		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				39	2329	---	---	---	---					
LRRC2	79442	broad.mit.edu	37	3	46580563	46580564	+	Frame_Shift_Ins	INS	-	-	T	rs150109562		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:46580563_46580564insT	ENST00000395905.3	-	4	853_854	c.461_462insA	c.(460-462)acafs	p.T154fs	LRRC2_ENST00000296144.3_Frame_Shift_Ins_p.T154fs	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	154										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		GTGAGATTTGGTTTTTTGGCAG	0.436													7	615	---	---	---	---					
SETD2	29072	broad.mit.edu	37	3	47084145	47084146	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:47084145_47084146insG	ENST00000409792.3	-	17	7185_7186	c.7143_7144insC	c.(7141-7146)ccctccfs	p.S2382fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.P2380fs(2)|p.P1877fs(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTGGGAGGAGAGGGGGGCGGCA	0.426			"""N, F, S, Mis"""		clear cell renal carcinoma								10	421	---	---	---	---					
SETD2	29072	broad.mit.edu	37	3	47161759	47161760	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:47161759_47161760insCC	ENST00000409792.3	-	3	4408_4409	c.4366_4367insGG	c.(4366-4368)cccfs	p.P1456fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCGCTGTGGGTCCCTGAAGTCA	0.455			"""N, F, S, Mis"""		clear cell renal carcinoma								8	535	---	---	---	---					
MAP4	4134	broad.mit.edu	37	3	47957955	47957956	+	Frame_Shift_Ins	INS	-	-	G	rs144609522		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:47957955_47957956insG	ENST00000426837.2	-	8	1499_1500	c.1412_1413insC	c.(1411-1413)cgafs	p.R471fs	MAP4_ENST00000395734.3_Frame_Shift_Ins_p.R454fs|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Frame_Shift_Ins_p.R454fs			P27816	MAP4_HUMAN	microtubule-associated protein 4	454	17 X 14 AA tandem repeats.				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)		CGTTGGTTTCCGGGGGCAGTGT	0.500													9	516	---	---	---	---					
COL7A1	1294	broad.mit.edu	37	3	48631051	48631052	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:48631051_48631052insC	ENST00000328333.8	-	3	451_452	c.344_345insG	c.(343-345)gaafs	p.E115fs	COL7A1_ENST00000454817.1_Frame_Shift_Ins_p.E115fs	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	115	Nonhelical region (NC1).|VWFA 1.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCGAGTGTTGCCCCCCTTGTA	0.614													8	709	---	---	---	---					
NCKIPSD	51517	broad.mit.edu	37	3	48716892	48716893	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:48716892_48716893insG	ENST00000294129.2	-	9	1609		c.e9-2		NCKIPSD_ENST00000341520.4_Splice_Site|NCKIPSD_ENST00000416649.2_Splice_Site	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain						cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCTGGTGGTCTGGGGGGGACAA	0.569													19	543	---	---	---	---					
IP6K2	51447	broad.mit.edu	37	3	48732640	48732641	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:48732640_48732641insC	ENST00000431721.2	-	3	486_487	c.249_250insG	c.(247-252)ggactcfs	p.L84fs	IP6K2_ENST00000328631.5_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000413298.1_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000436134.1_5'UTR|IP6K2_ENST00000417896.1_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000450045.1_Frame_Shift_Ins_p.L83fs|IP6K2_ENST00000443964.1_Frame_Shift_Ins_p.L88fs|IP6K2_ENST00000453202.1_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000446860.1_Frame_Shift_Ins_p.L87fs|IP6K2_ENST00000340879.4_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000449610.1_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000432678.2_Frame_Shift_Ins_p.L29fs	NM_001190316.1	NP_001177245.1	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	29					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						ACGCATGAGTGCCCCCCGACCT	0.619													8	347	---	---	---	---					
KLHDC8B	200942	broad.mit.edu	37	3	49210309	49210310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:49210309_49210310insG	ENST00000332780.2	+	2	316_317	c.107_108insG	c.(106-108)tggfs	p.W36fs	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	36						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTGCTGGTGTTGGGGGGTTGTG	0.668													8	243	---	---	---	---					
BSN	8927	broad.mit.edu	37	3	49662667	49662668	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:49662667_49662668insC	ENST00000296452.4	+	2	598_599	c.484_485insC	c.(484-486)cccfs	p.P162fs		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	162					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCTCAGATCGCCCCCCTTCCC	0.619													11	801	---	---	---	---					
RNF123	63891	broad.mit.edu	37	3	49740082	49740083	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:49740082_49740083insC	ENST00000327697.6	+	20	1790_1791	c.1646_1647insC	c.(1645-1647)tccfs	p.S549fs	RNF123_ENST00000432042.1_Frame_Shift_Ins_p.S403fs	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	549						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CCCATGCTCTGCCCCCCTGAGT	0.550													9	933	---	---	---	---					
SEMA3B	7869	broad.mit.edu	37	3	50311901	50311902	+	RNA	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:50311901_50311902insG	ENST00000418948.1	+	0	1479_1480							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TCCTGCCCACTGGGGGGCGCCC	0.564											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	308	---	---	---	---					
IFRD2	7866	broad.mit.edu	37	3	50325937	50325938	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:50325937_50325938insG	ENST00000436390.1	-	14	1650		c.e14-2		IFRD2_ENST00000336089.4_Splice_Site|IFRD2_ENST00000417626.2_Splice_Site|IFRD2_ENST00000429673.2_Splice_Site			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2								binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTCATTGTTCTGGGGGGCAGAG	0.609													7	446	---	---	---	---					
VPRBP	9730	broad.mit.edu	37	3	51457614	51457615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:51457614_51457615insG	ENST00000335891.5	-	7	1471_1472	c.1462_1463insC	c.(1462-1464)gggfs	p.G488fs				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	937					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TAGCGGACCCTGGGGGGGCCGT	0.589													22	166	---	---	---	---					
STAB1	23166	broad.mit.edu	37	3	52550782	52550782	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:52550782delC	ENST00000321725.6	+	41	4437	c.4361delC	c.(4360-4362)tafs	p.S1454fs		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1454	EGF-like 10.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ATCTTCTGTTCAGGTCCAGCC	0.647													4	8	---	---	---	---					
IL17RB	55540	broad.mit.edu	37	3	53898813	53898814	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:53898813_53898814insC	ENST00000288167.3	+	11	996_997	c.987_988insC	c.(985-990)ctccccfs	p.LP329fs		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	329					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		CCACACTACTGCCCCCCATTAA	0.406													11	808	---	---	---	---					
CCDC66	285331	broad.mit.edu	37	3	56598017	56598018	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:56598017_56598018insA	ENST00000394672.3	+	4	478_479	c.408_409insA	c.(406-411)caaaaafs	p.QK136fs	CCDC66_ENST00000442522.2_3'UTR|CCDC66_ENST00000436465.2_Frame_Shift_Ins_p.QK136fs|CCDC66_ENST00000538560.1_Frame_Shift_Ins_p.QK136fs|CCDC66_ENST00000326595.7_Frame_Shift_Ins_p.QK102fs	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	136										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AGAAGCCTCACAAAAAACACAT	0.386													8	184	---	---	---	---					
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(124-129)ttggggfs	p.LG42fs	KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000479470.1_3'UTR	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	42	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465													28	576	---	---	---	---					
ATXN7	6314	broad.mit.edu	37	3	63981831	63981832	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:63981831_63981832insC	ENST00000398590.3	+	12	2886_2887	c.2333_2334insC	c.(2332-2334)gccfs	p.A778fs	ATXN7_ENST00000295900.6_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000538065.1_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000487717.1_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													9	196	---	---	---	---					
PRICKLE2	166336	broad.mit.edu	37	3	64132662	64132663	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:64132662_64132663insG	ENST00000295902.6	-	7	2088_2089	c.1503_1504insC	c.(1501-1506)ccaatafs	p.I502fs	PRICKLE2_ENST00000564377.1_Frame_Shift_Ins_p.I558fs	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	502						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TCCTCATATTTGGGGACTTGGA	0.540													8	821	---	---	---	---					
ADAMTS9	56999	broad.mit.edu	37	3	64532502	64532503	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:64532502_64532503insG	ENST00000498707.1	-	32	5337_5338	c.4995_4996insC	c.(4993-4998)ccgtgtfs	p.C1666fs	ADAMTS9_ENST00000295903.4_Frame_Shift_Ins_p.C1638fs	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1666	TSP type-1 14.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GGGTGAACACTGGGGGGCTGCG	0.535													7	619	---	---	---	---					
FOXP1	27086	broad.mit.edu	37	3	71027086	71027087	+	Frame_Shift_Ins	INS	-	-	G	rs79651000	by1000genomes	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:71027086_71027087insG	ENST00000318789.4	-	15	1765_1766	c.1240_1241insC	c.(1240-1242)gacfs	p.D414fs	FOXP1_ENST00000475937.1_Frame_Shift_Ins_p.D414fs|FOXP1_ENST00000493089.1_Frame_Shift_Ins_p.D414fs|FOXP1_ENST00000498215.1_Frame_Shift_Ins_p.D414fs|FOXP1_ENST00000484350.1_Frame_Shift_Ins_p.D338fs|FOXP1_ENST00000468577.1_Frame_Shift_Ins_p.D414fs|FOXP1_ENST00000491238.1_Frame_Shift_Ins_p.D416fs	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	414					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GACGGGAGTCAGGGGGGCGGTT	0.569			T	PAX5	ALL								8	688	---	---	---	---					
VGLL3	389136	broad.mit.edu	37	3	87018182	87018183	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													7	494	---	---	---	---					
TRMT10C	54931	broad.mit.edu	37	3	101283790	101283791	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:101283790_101283791insC	ENST00000309922.6	+	2	319_320	c.165_166insC	c.(163-168)acccccfs	p.TP55fs		NM_017819.2	NP_060289.2			tRNA methyltransferase 10 homolog C (S. cerevisiae)																		ATGAGAGTACACCCCCTTCTGA	0.371													7	620	---	---	---	---					
IGSF11	152404	broad.mit.edu	37	3	118647520	118647521	+	Frame_Shift_Ins	INS	-	-	G	rs145433873	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:118647520_118647521insG	ENST00000354673.2	-	5	636_637	c.256_257insC	c.(256-258)gttfs	p.V86fs	IGSF11_ENST00000393775.2_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000425327.2_Frame_Shift_Ins_p.V86fs|IGSF11_ENST00000441144.2_Frame_Shift_Ins_p.V86fs|IGSF11_ENST00000491903.1_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000489689.1_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000459718.1_5'UTR	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	87	Ig-like V-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACCGTGGAACCGGGGGGCACCA	0.465													12	699	---	---	---	---					
MUC13	56667	broad.mit.edu	37	3	124646676	124646677	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:124646676_124646677insG	ENST00000311075.3	-	2	251_252	c.213_214insC	c.(211-216)cctaatfs	p.N72fs		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	72	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						GTACTAATTATGGGGGGAGCAG	0.460													10	1409	---	---	---	---					
PCCB	5096	broad.mit.edu	37	3	136046013	136046014	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:136046013_136046014insG	ENST00000471595.1	+	12	1233_1234	c.1215_1216insG	c.(1213-1218)taggggfs	p.*G405fs	PCCB_ENST00000462637.1_Frame_Shift_Ins_p.*G382fs|PCCB_ENST00000466072.1_Frame_Shift_Ins_p.*G425fs|PCCB_ENST00000468777.1_Frame_Shift_Ins_p.*G436fs|PCCB_ENST00000483687.1_Frame_Shift_Ins_p.*G386fs|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000482086.1_Frame_Shift_Ins_p.*G289fs|PCCB_ENST00000490504.1_Frame_Shift_Ins_p.*G348fs|PCCB_ENST00000469217.1_Frame_Shift_Ins_p.*G425fs|PCCB_ENST00000251654.4_Frame_Shift_Ins_p.*G405fs|PCCB_ENST00000474833.1_Intron			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	405	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity	p.G406R(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	CACAGGAATACGGGGGCATCAT	0.520													7	798	---	---	---	---					
PIK3CB	5291	broad.mit.edu	37	3	138413709	138413710	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:138413709_138413710insG	ENST00000477593.1	-	13	1883_1884	c.1810_1811insC	c.(1810-1812)ggafs	p.G604fs	PIK3CB_ENST00000544716.1_Frame_Shift_Ins_p.G50fs|PIK3CB_ENST00000289153.2_Frame_Shift_Ins_p.G604fs			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	604	PI3K helical.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TAGGGCCTCCCGGGGGGGCAGT	0.465													8	94	---	---	---	---					
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													28	861	---	---	---	---					
MED12L	116931	broad.mit.edu	37	3	151095831	151095832	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:151095831_151095832insC	ENST00000474524.1	+	29	4281_4282	c.4243_4244insC	c.(4243-4245)cccfs	p.P1415fs	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Frame_Shift_Ins_p.P1275fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1415					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGGTTGGTGGCCCCCCTCATC	0.520													10	950	---	---	---	---					
MME	4311	broad.mit.edu	37	3	154884713	154884714	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:154884713_154884714insC	ENST00000460393.1	+	18	1803_1804	c.1683_1684insC	c.(1681-1686)caccccfs	p.HP561fs	MME_ENST00000492661.1_Frame_Shift_Ins_p.HP561fs|MME_ENST00000462745.1_Frame_Shift_Ins_p.HP561fs|MME_ENST00000493237.1_Frame_Shift_Ins_p.HP561fs|MME_ENST00000360490.2_Frame_Shift_Ins_p.HP561fs|MME-AS1_ENST00000484721.1_RNA	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	561					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.Q561H(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GCATTCTGCAGCCCCCCTTCTT	0.446													10	319	---	---	---	---					
SAMD7	344658	broad.mit.edu	37	3	169646267	169646268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:169646267_169646268insG	ENST00000428432.2	+	7	1331_1332	c.942_943insG	c.(940-945)atggggfs	p.MG314fs	SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	314										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGGTTACAATTGGGGGGAATCT	0.381													9	741	---	---	---	---					
FNDC3B	64778	broad.mit.edu	37	3	172096209	172096210	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:172096209_172096210insC	ENST00000336824.4	+	24	3257_3258	c.3158_3159insC	c.(3157-3159)gccfs	p.A1053fs	FNDC3B_ENST00000415807.2_Frame_Shift_Ins_p.A1053fs|FNDC3B_ENST00000416957.1_Frame_Shift_Ins_p.A1053fs	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1053						endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ACCAAAAGTGTCCCCCCCACCA	0.470													20	346	---	---	---	---					
ABCC5	10057	broad.mit.edu	37	3	183700629	183700630	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:183700629_183700630insC	ENST00000334444.6	-	6	997_998	c.757_758insG	c.(757-759)catfs	p.H253fs	ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.H253fs	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	253	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGTTAGGATGGCCCCCCGCAAG	0.515													8	513	---	---	---	---					
HTR3C	170572	broad.mit.edu	37	3	183777416	183777417	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:183777416_183777417insC	ENST00000318351.1	+	7	947_948	c.913_914insC	c.(913-915)cccfs	p.P305fs		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	305						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGCCAGTGGCACCCCCCTCATC	0.584													7	1072	---	---	---	---					
HTR3E	285242	broad.mit.edu	37	3	183823745	183823746	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:183823745_183823746insC	ENST00000415389.2	+	7	1379_1380	c.913_914insC	c.(913-915)cccfs	p.P305fs	HTR3E_ENST00000425359.2_Frame_Shift_Ins_p.P290fs|HTR3E_ENST00000335304.2_Frame_Shift_Ins_p.P320fs|HTR3E_ENST00000436361.2_Frame_Shift_Ins_p.P305fs|HTR3E_ENST00000440596.2_Frame_Shift_Ins_p.P331fs	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	305						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CACCAGTGGCACCCCCCTCATC	0.540													16	1822	---	---	---	---					
ECE2	9718	broad.mit.edu	37	3	184008355	184008356	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:184008355_184008356insC	ENST00000402825.3	+	15	2020_2021	c.2020_2021insC	c.(2020-2022)cccfs	p.P674fs	ECE2_ENST00000359140.4_Frame_Shift_Ins_p.P527fs|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Frame_Shift_Ins_p.P556fs|ECE2_ENST00000357474.5_Frame_Shift_Ins_p.P602fs	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	674	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGGAGCATGACCCCCCAGACA	0.609													8	680	---	---	---	---					
AHSG	197	broad.mit.edu	37	3	186338423	186338424	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:186338423_186338424insC	ENST00000411641.2	+	7	1027_1028	c.808_809insC	c.(808-810)accfs	p.T270fs	AHSG_ENST00000273784.5_Frame_Shift_Ins_p.T271fs			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	270					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		AGCAGTCCCCACACCCGTGGTG	0.599													8	1246	---	---	---	---					
FETUB	26998	broad.mit.edu	37	3	186362543	186362544	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:186362543_186362544insA	ENST00000265029.3	+	4	529_530	c.428_429insA	c.(427-429)taafs	p.*143fs	FETUB_ENST00000450521.1_Frame_Shift_Ins_p.*143fs|FETUB_ENST00000382134.3_Frame_Shift_Ins_p.*78fs|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000382136.3_Frame_Shift_Ins_p.*106fs|RP11-134F2.2_ENST00000428501.1_RNA	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	143						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		TCAACAGTTTCAAAAAAAAAGA	0.421													10	276	---	---	---	---					
BCL6	604	broad.mit.edu	37	3	187446269	187446270	+	Frame_Shift_Ins	INS	-	-	G	rs149258247		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:187446269_187446270insG	ENST00000406870.2	-	6	1784_1785	c.1418_1419insC	c.(1417-1419)caafs	p.Q473fs	BCL6_ENST00000450123.2_Frame_Shift_Ins_p.Q473fs|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Frame_Shift_Ins_p.Q473fs	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	473					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P473L(1)|p.K474fs*26(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		ACGTGCACTTCGGGGGGTGCAT	0.629			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								11	203	---	---	---	---					
ACAP2	23527	broad.mit.edu	37	3	195013093	195013094	+	Frame_Shift_Ins	INS	-	-	T	rs112375796	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:195013093_195013094insT	ENST00000326793.6	-	19	2083_2084	c.1853_1854insA	c.(1852-1854)actfs	p.T618fs		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	618					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TTTTAGGAAGGTTTTTTTCATA	0.431													15	680	---	---	---	---					
PAK2	5062	broad.mit.edu	37	3	196541367	196541368	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:196541367_196541368insG	ENST00000327134.3	+	11	1303_1304	c.981_982insG	c.(979-984)gcggggfs	p.AG327fs		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	327	Protein kinase.				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)		AATACCTTGCTGGGGGGTCACT	0.411													7	508	---	---	---	---					
KIAA0226	9711	broad.mit.edu	37	3	197427914	197427915	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:197427914_197427915insG	ENST00000273582.5	-	7	1195_1196	c.650_651insC	c.(649-651)cgtfs	p.R217fs	KIAA0226_ENST00000449205.1_Frame_Shift_Ins_p.R277fs|KIAA0226_ENST00000389665.5_Frame_Shift_Ins_p.R277fs|KIAA0226_ENST00000296343.5_Frame_Shift_Ins_p.R277fs	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	277	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		AGACTGAAACTGGGGGGGCTTG	0.554													8	250	---	---	---	---					
LETM1	3954	broad.mit.edu	37	4	1843235	1843236	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													31	140	---	---	---	---					
WHSC1	7468	broad.mit.edu	37	4	1980558	1980559	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:1980558_1980559insC	ENST00000382895.3	+	24	4451_4452	c.4020_4021insC	c.(4018-4023)aaccccfs	p.NP1340fs	WHSC1_ENST00000508803.1_Frame_Shift_Ins_p.NP1340fs|WHSC1_ENST00000382892.2_Frame_Shift_Ins_p.NP1340fs|WHSC1_ENST00000382888.3_Frame_Shift_Ins_p.NP688fs|WHSC1_ENST00000382891.5_Frame_Shift_Ins_p.NP1340fs|WHSC1_ENST00000482415.2_3'UTR	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1340					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AGACTGAGAAGCCCCCCCCAGA	0.678			T	IGH@	MM								9	48	---	---	---	---					
CRMP1	1400	broad.mit.edu	37	4	5827251	5827253	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:5827251_5827253delTTC	ENST00000324989.7	-	13	2025_2027	c.1937_1939delGAA	c.(1936-1941)aac>a	p.RN646del	CRMP1_ENST00000512574.1_In_Frame_Del_p.RN530del|EVC_ENST00000382674.2_Intron|CRMP1_ENST00000397890.2_In_Frame_Del_p.RN532del|CRMP1_ENST00000511535.1_5'UTR	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	532					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		TGGTGGAGGTTTCTGATGGGTGG	0.542													114	610	---	---	---	---					
GBA3	57733	broad.mit.edu	37	4	22729241	22729242	+	RNA	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:22729241_22729242insA	ENST00000508166.1	+	0	160				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCCCAACAAGCAAAAAAGGAGT	0.421													10	749	---	---	---	---					
KLF3	51274	broad.mit.edu	37	4	38691475	38691476	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													23	718	---	---	---	---					
TMPRSS11F	389208	broad.mit.edu	37	4	68919689	68919690	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:68919689_68919690insT	ENST00000356291.2	-	10	1313_1314	c.1254_1255insA	c.(1252-1257)aactggfs	p.NW418fs	RP11-453E17.1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	418	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TAGACTCCAGGTTTTTTGGGAA	0.431													7	354	---	---	---	---					
FRAS1	80144	broad.mit.edu	37	4	79238582	79238583	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													7	168	---	---	---	---					
RASGEF1B	153020	broad.mit.edu	37	4	82363491	82363492	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:82363491_82363492insT	ENST00000509081.1	-	9	1185_1186	c.964_965insA	c.(964-966)ttgfs	p.L322fs	RASGEF1B_ENST00000264400.2_Frame_Shift_Ins_p.L323fs|RASGEF1B_ENST00000335927.7_Frame_Shift_Ins_p.L281fs			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	323	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						TTTGGCCCAAGTTTTTTTTAGT	0.381													8	235	---	---	---	---					
WDFY3	23001	broad.mit.edu	37	4	85752731	85752731	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:85752731delA	ENST00000322366.6	-	8	1011	c.604delT	c.(604-606)ccfs	p.S202fs	WDFY3_ENST00000295888.4_Frame_Shift_Del_p.S202fs			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	202						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)		TCCGCAGGGGAAACAAAACTG	0.388													7	136	---	---	---	---					
SLC10A6	345274	broad.mit.edu	37	4	87769942	87769943	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													8	300	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96091356	96091357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:96091356_96091357insG	ENST00000453304.1	-	15	2926_2927	c.2578_2579insC	c.(2578-2580)gacfs	p.D860fs		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	860	Death.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCCTCTCGTCTGGGGGGCATCC	0.599													10	490	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)agafs	p.R491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505													24	811	---	---	---	---					
ANK2	287	broad.mit.edu	37	4	114280134	114280135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:114280134_114280135insG	ENST00000357077.4	+	38	10413_10414	c.10360_10361insG	c.(10360-10362)gggfs	p.G3454fs	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Frame_Shift_Ins_p.G3421fs|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_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													13	250	---	---	---	---					
ANKRD50	57182	broad.mit.edu	37	4	125590618	125590619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													8	397	---	---	---	---					
PCDH10	57575	broad.mit.edu	37	4	134072550	134072551	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:134072550_134072551insC	ENST00000264360.4	+	1	2081_2082	c.1255_1256insC	c.(1255-1257)cccfs	p.P419fs		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	419	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGTTACCGAAGCCCCCCTGGAC	0.594													10	1536	---	---	---	---					
SETD7	80854	broad.mit.edu	37	4	140432891	140432892	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													12	265	---	---	---	---					
GAB1	2549	broad.mit.edu	37	4	144381536	144381537	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:144381536_144381537insC	ENST00000262995.4	+	9	2216_2217	c.1789_1790insC	c.(1789-1791)cccfs	p.P597fs	GAB1_ENST00000262994.4_Frame_Shift_Ins_p.P567fs|GAB1_ENST00000505913.1_Frame_Shift_Ins_p.P464fs	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	567					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GTTTCCCATGTCCCCCCGACCA	0.406													11	444	---	---	---	---					
FGG	2266	broad.mit.edu	37	4	155526058	155526059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:155526058_155526059insC	ENST00000404648.3	-	9	1528_1529	c.1289_1290insG	c.(1288-1290)ggcfs	p.G430fs	FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000336098.3_Frame_Shift_Ins_p.G430fs	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	430	Platelet aggregation and Staphylococcus clumping.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CCTGTTTGGCTCCCCCCAGGTG	0.450													11	560	---	---	---	---					
TRIML2	205860	broad.mit.edu	37	4	189012770	189012771	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													11	967	---	---	---	---					
FRG1	2483	broad.mit.edu	37	4	190876218	190876219	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:190876218_190876219insAT	ENST00000226798.4	+	5	566_567	c.344_345insAT	c.(343-345)atafs	p.I115fs	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	115					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GGCTATGGAAAATATCTTGGTA	0.361													8	131	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	31799656	31799657	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													21	486	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36608557	36608558	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													11	464	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													27	975	---	---	---	---					
FYB	2533	broad.mit.edu	37	5	39203039	39203040	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:39203039_39203040insC	ENST00000351578.6	-	2	213_214	c.23_24insG	c.(22-24)gaafs	p.E8fs	FYB_ENST00000540520.1_Frame_Shift_Ins_p.E18fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.E8fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.E8fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.E8fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	8					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CTGTCGGGTTGCCCCCCGTGTT	0.446													8	402	---	---	---	---					
MOCS2	4338	broad.mit.edu	37	5	52402939	52402940	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:52402939_52402940insG	ENST00000361377.4	-	3	293_294	c.252_253insC	c.(250-255)ccttagfs	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_ENST00000508922.1_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													19	331	---	---	---	---					
OCLN	100506658	broad.mit.edu	37	5	68809915	68809916	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:68809915_68809916insC	ENST00000355237.2	+	4	1306_1307	c.870_871insC	c.(868-873)caccccfs	p.HP290fs	OCLN_ENST00000380766.2_Intron|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000396442.2_Frame_Shift_Ins_p.HP290fs|OCLN_ENST00000538151.1_Frame_Shift_Ins_p.HP39fs	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	290					cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		ATGATGAGCAGCCCCCCAATGT	0.347													14	495	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71492990	71492991	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:71492990_71492991insC	ENST00000296755.7	+	5	4106_4107	c.3808_3809insC	c.(3808-3810)cccfs	p.P1270fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1270						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)		CTTAGAAAAGACCCCCCTGGGT	0.515													10	992	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													19	363	---	---	---	---					
ENC1	8507	broad.mit.edu	37	5	73931269	73931270	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:73931269_73931270insC	ENST00000302351.4	-	2	2171_2172	c.1041_1042insG	c.(1039-1044)ggggggfs	p.GG347fs	ENC1_ENST00000537006.1_Frame_Shift_Ins_p.GG347fs|ENC1_ENST00000510316.1_Frame_Shift_Ins_p.GG274fs	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	347					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TCAGACCCCCGCCCCCCAGTAA	0.530													14	743	---	---	---	---					
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													15	139	---	---	---	---					
GPR98	84059	broad.mit.edu	37	5	89943433	89943434	+	Frame_Shift_Del	DEL	AA	AA	-	rs950692	by1000genomes	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:89943433_89943434delAA	ENST00000405460.2	+	17	3237_3238	c.3141_3142delAA	c.(3139-3144)gcgafs	p.AR1047fs		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1047					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGGCTACTGCAAGAGAGAGAGA	0.416													7	441	---	---	---	---					
PCSK1	5122	broad.mit.edu	37	5	95746639	95746640	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:95746639_95746640insC	ENST00000311106.3	-	8	1170_1171	c.933_934insG	c.(931-936)gggtcafs	p.S312fs	PCSK1_ENST00000508626.1_Frame_Shift_Ins_p.S265fs|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_Intron	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	312	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	p.R312C(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTCCCTGACGCCCCCCGTTTC	0.530													9	573	---	---	---	---					
SEMA6A	57556	broad.mit.edu	37	5	115782764	115782765	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:115782764_115782765insG	ENST00000343348.6	-	19	3424_3425	c.2637_2638insC	c.(2635-2640)ccaagtfs	p.S880fs	SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.S880fs|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.S259fs|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.S307fs|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.S897fs|SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.S357fs	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	880					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTGGAACTTTGGGGGGCAGGC	0.604													9	417	---	---	---	---					
FAM170A	340069	broad.mit.edu	37	5	118969956	118969957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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	287	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:127648336_127648337insG	ENST00000508053.1	-	43	5842_5843	c.4868_4869insC	c.(4867-4869)cgtfs	p.R1623fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs			P35556	FBN2_HUMAN	fibrillin 2	1623	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.P1623P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCTATTGACAGGGGGGCATGT	0.505													9	715	---	---	---	---					
PDLIM4	8572	broad.mit.edu	37	5	131606778	131606779	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:131606778_131606779insC	ENST00000253754.3	+	4	562_563	c.498_499insC	c.(496-501)ccccccfs	p.PP166fs	PDLIM4_ENST00000484620.1_3'UTR|PDLIM4_ENST00000379018.3_Frame_Shift_Ins_p.PP166fs|P4HA2_ENST00000471826.1_Intron	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	166							protein binding|zinc ion binding	p.S169fs*50(1)		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)			ATGTGTCTCCACCCCCCAGGTA	0.589													7	692	---	---	---	---					
KIF3A	11127	broad.mit.edu	37	5	132052654	132052655	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:132052654_132052655insAG	ENST00000378746.4	-	6	856_857	c.638_639insCT	c.(637-639)aaafs	p.K213fs	AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Frame_Shift_Ins_p.K213fs|KIF3A_ENST00000378735.1_Frame_Shift_Ins_p.K213fs	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	213	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TATGTTCGTTCATATTAGTTGC	0.356													29	306	---	---	---	---					
FSTL4	23105	broad.mit.edu	37	5	132534816	132534817	+	Frame_Shift_Ins	INS	-	-	C	rs140495211		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:132534816_132534817insC	ENST00000265342.7	-	16	2748_2749	c.2499_2500insG	c.(2497-2502)ggccacfs	p.H834fs	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	834						extracellular region	calcium ion binding	p.T834fs*>9(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCACTGTGGTCCCCCCCTTTA	0.584													7	248	---	---	---	---					
TCF7	6932	broad.mit.edu	37	5	133473764	133473765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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_ENST00000321584.4_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000518915.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000395023.1_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													23	363	---	---	---	---					
SEC24A	10802	broad.mit.edu	37	5	134053794	134053795	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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	443	---	---	---	---					
SLC25A48	153328	broad.mit.edu	37	5	135207263	135207264	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:135207263_135207264insG	ENST00000274513.5	+	5	707_708	c.535_536insG	c.(535-537)gggfs	p.G179fs	SLC25A48_ENST00000420621.1_Frame_Shift_Ins_p.G179fs|SLC25A48_ENST00000433282.2_Frame_Shift_Ins_p.G125fs|SLC25A48_ENST00000412661.2_Intron|SLC25A48_ENST00000425402.1_Intron			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													8	370	---	---	---	---					
PSD2	84249	broad.mit.edu	37	5	139193054	139193055	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:139193054_139193055insC	ENST00000274710.3	+	3	737_738	c.532_533insC	c.(532-534)cccfs	p.P178fs		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	178					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)			CAGCTTCGAGGCCCCCCTCACA	0.668													7	486	---	---	---	---					
PSD2	84249	broad.mit.edu	37	5	139193287	139193288	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													22	356	---	---	---	---					
PCDHB12	56124	broad.mit.edu	37	5	140588663	140588664	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:140588663_140588664insG	ENST00000239450.2	+	1	373_374	c.184_185insG	c.(184-186)gggfs	p.G62fs	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		62	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGTCTTCGCGGGGGGCTCGG	0.510													16	974	---	---	---	---					
PCDHGC3	5098	broad.mit.edu	37	5	140857727	140857728	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:140857727_140857728insC	ENST00000308177.3	+	1	2148_2149	c.2044_2045insC	c.(2044-2046)cccfs	p.P682fs	PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_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)	10	279	---	---	---	---					
PCDHGC5	56097	broad.mit.edu	37	5	140870530	140870531	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:140870530_140870531insC	ENST00000252087.1	+	1	1723_1724	c.1723_1724insC	c.(1723-1725)cccfs	p.P575fs	PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC4_ENST00000306593.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		575	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACACTCAGCCCCCCAGCGT	0.589													7	400	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049509	141049510	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:141049509_141049510insG	ENST00000239440.4	-	15	2293_2294	c.2228_2229insC	c.(2227-2229)cccfs	p.P743fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs	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													8	1009	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141052414	141052415	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:141052414_141052415insG	ENST00000239440.4	-	8	1236_1237	c.1171_1172insC	c.(1171-1173)accfs	p.T391fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.T313fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.T53fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	391					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						TCGGGGTGGTTGGGGGGGCCGG	0.658													7	72	---	---	---	---					
PCDH1	5097	broad.mit.edu	37	5	141244441	141244442	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:141244441_141244442insG	ENST00000287008.3	-	3	1601_1602	c.1454_1455insC	c.(1453-1455)cctfs	p.P485fs	PCDH1_ENST00000536585.1_Frame_Shift_Ins_p.P463fs|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000394536.3_Frame_Shift_Ins_p.P485fs|PCDH1_ENST00000456271.1_Frame_Shift_Ins_p.P473fs	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													12	1209	---	---	---	---					
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													31	692	---	---	---	---					
SPRY4	81848	broad.mit.edu	37	5	141694153	141694154	+	Frame_Shift_Ins	INS	-	-	G	rs144353509		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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				13	749	---	---	---	---					
ARHGAP26	23092	broad.mit.edu	37	5	142586762	142586763	+	Splice_Site	INS	-	-	C	rs144777273		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													10	565	---	---	---	---					
SH3RF2	153769	broad.mit.edu	37	5	145393368	145393369	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:145393368_145393369insA	ENST00000511217.1	+	4	855_856	c.803_804insA	c.(802-804)aaafs	p.K268fs	SH3RF2_ENST00000359120.4_Frame_Shift_Ins_p.K268fs			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	268							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCATCCCGCACAAAAAACCTGT	0.530													7	631	---	---	---	---					
PPP2R2B	5521	broad.mit.edu	37	5	145969651	145969652	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:145969651_145969652insC	ENST00000394413.3	-	9	1760_1761	c.1190_1191insG	c.(1189-1191)gaafs	p.E397fs	PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.E397fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.E455fs|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.E463fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.E403fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.E400fs|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.E386fs			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	397					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTCCGCTTGCCCCCCACACA	0.500													14	908	---	---	---	---					
FAT2	2196	broad.mit.edu	37	5	150885188	150885189	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:150885188_150885189insG	ENST00000261800.5	-	23	12999_13000	c.12987_12988insC	c.(12985-12990)ccactafs	p.L4330fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4330					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)			CCCTCATAGTTGGGGGGCACCC	0.634													9	158	---	---	---	---					
FAT2	2196	broad.mit.edu	37	5	150924483	150924484	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:150924483_150924484insG	ENST00000261800.5	-	9	6216_6217	c.6204_6205insC	c.(6202-6207)ccaattfs	p.I2069fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2069	Cadherin 17.				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)			TGCTTAAATTTGGGGGGATTGT	0.505													7	711	---	---	---	---					
FAT2	2196	broad.mit.edu	37	5	150946335	150946335	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:150946335delG	ENST00000261800.5	-	1	2170	c.2158delC	c.(2158-2160)aafs	p.Q720fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	720	Cadherin 6.				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)			TCAATGGATTGGGGGAAGTGG	0.478													9	256	---	---	---	---					
FAXDC2	10826	broad.mit.edu	37	5	154202045	154202045	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:154202045delG	ENST00000326080.5	-	7	1088	c.665delC	c.(664-666)ctfs	p.P222fs	FAXDC2_ENST00000517938.1_Frame_Shift_Del_p.P199fs	NM_032385.3	NP_115761.2			fatty acid hydroxylase domain containing 2																		ATGCTCTATAGGGTGGGCATA	0.522													7	1157	---	---	---	---					
ADAM19	8728	broad.mit.edu	37	5	156915296	156915297	+	Frame_Shift_Ins	INS	-	-	G	rs11466804	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:156915296_156915297insG	ENST00000257527.4	-	21	2604_2605	c.2526_2527insC	c.(2524-2529)cccaccfs	p.T843fs	ADAM19_ENST00000394020.1_Frame_Shift_Ins_p.T845fs|ADAM19_ENST00000517905.1_Frame_Shift_Ins_p.T843fs|ADAM19_ENST00000430702.2_Frame_Shift_Ins_p.T576fs	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													8	602	---	---	---	---					
GABRA6	2559	broad.mit.edu	37	5	161116011	161116012	+	Frame_Shift_Ins	INS	-	-	G	rs143274925		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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)			22	1293	---	---	---	---					
UBTD2	92181	broad.mit.edu	37	5	171638949	171638950	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:171638949_171638950insA	ENST00000393792.2	-	3	994_995	c.589_590insT	c.(589-591)tggfs	p.W197fs		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	197	Ubiquitin-like.					cytoplasm				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGTCTGCCAGAAAAAAACCAC	0.490													10	532	---	---	---	---					
HRH2	3274	broad.mit.edu	37	5	175111290	175111291	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:175111290_175111291insC	ENST00000231683.2	+	1	2827_2828	c.1054_1055insC	c.(1054-1056)cccfs	p.P352fs	HRH2_ENST00000377291.2_Frame_Shift_Ins_p.P352fs	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	352					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	AGAAGTCACGGCCCCCCAGGGA	0.589													7	834	---	---	---	---					
DBN1	1627	broad.mit.edu	37	5	176885424	176885425	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:176885424_176885425insG	ENST00000292385.5	-	13	2025_2026	c.1416_1417insC	c.(1414-1419)ccccgcfs	p.R473fs	DBN1_ENST00000393563.4_Frame_Shift_Ins_p.R203fs|DBN1_ENST00000309007.5_Frame_Shift_Ins_p.R471fs|DBN1_ENST00000393565.1_Frame_Shift_Ins_p.R517fs|DBN1_ENST00000512501.1_Frame_Shift_Ins_p.R203fs	NM_080881.2	NP_543157.1	Q16643	DREB_HUMAN	drebrin 1	471					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGTGGCGGCGGGGGGTACGT	0.639													8	284	---	---	---	---					
OR2V1	26693	broad.mit.edu	37	5	180552127	180552128	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:180552127_180552128insG	ENST00000329365.2	-	1	176_177	c.177_178insC	c.(175-180)cctgtafs	p.V60fs		NM_001258283.1	NP_001245212.1			olfactory receptor, family 2, subfamily V, member 1											lung(4)	4						AAGAAGTACATGGGGGTGTGAA	0.525													8	1055	---	---	---	---					
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Frame_Shift_Ins	INS	-	-	C	rs55808116		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:10557409_10557410insC	ENST00000316170.3	+	1	1170_1171	c.753_754insC	c.(751-756)ccccccfs	p.PP251fs	GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000397423.2_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													23	426	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599													33	400	---	---	---	---					
KIF13A	63971	broad.mit.edu	37	6	17837307	17837308	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:17837307_17837308insC	ENST00000378814.5	-	11	955_956	c.956_957insG	c.(955-957)gaafs	p.E319fs	KIF13A_ENST00000378826.2_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378843.2_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000259711.6_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378816.5_Frame_Shift_Ins_p.E319fs	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	319					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTTGGCTGTTGCCCCCCAAGTT	0.450													22	632	---	---	---	---					
NRSN1	140767	broad.mit.edu	37	6	24145844	24145845	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:24145844_24145845insC	ENST00000378491.4	+	4	559_560	c.258_259insC	c.(256-261)gtccccfs	p.VP86fs		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	86					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GCTTTCTTGTGCCCCCCAAAAT	0.485													11	305	---	---	---	---					
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													28	1213	---	---	---	---					
ZNF184	7738	broad.mit.edu	37	6	27419434	27419435	+	Frame_Shift_Ins	INS	-	-	T	rs149207610		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:27419434_27419435insT	ENST00000211936.6	-	6	2187_2188	c.1903_1904insA	c.(1903-1905)tcafs	p.S635fs	ZNF184_ENST00000377419.1_Frame_Shift_Ins_p.S635fs	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	635					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTCTGTGTGAGTTTTTTGATGT	0.421													7	382	---	---	---	---					
OR5V1	81696	broad.mit.edu	37	6	29323424	29323425	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:29323424_29323425insG	ENST00000377154.1	-	4	847_848	c.548_549insC	c.(547-549)cttfs	p.L183fs	OR5V1_ENST00000543825.1_Frame_Shift_Ins_p.L183fs			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P183H(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGATCAGCAAAGGGGGGATGTC	0.455													7	921	---	---	---	---					
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:29627216_29627217insC	ENST00000376894.4	+	2	327_328	c.209_210insC	c.(208-210)cccfs	p.P70fs	MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000483013.1_Intron|MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000490427.1_Intron|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	70	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		p.F73fs*29(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGGTGGTACCGCCCCCCCTTCT	0.569													24	1008	---	---	---	---					
PPP1R10	5514	broad.mit.edu	37	6	30569333	30569334	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:30569333_30569334insG	ENST00000376511.2	-	20	3367_3368	c.2815_2816insC	c.(2815-2817)gccfs	p.A939fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	939					protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TCCCTAGGGCAGGGGGGGCCCA	0.569													11	249	---	---	---	---					
TUBB	203068	broad.mit.edu	37	6	30691536	30691543	+	Frame_Shift_Del	DEL	ATGAGTGG	ATGAGTGG	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:30691536_30691543delATGAGTGG	ENST00000396389.1	+	4	1236_1243	c.643_650delATGAGTGG	c.(643-651)tfs	p.MSG215fs	XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000396384.1_Frame_Shift_Del_p.MSG161fs|TUBB_ENST00000327892.8_Frame_Shift_Del_p.MSG233fs|TUBB_ENST00000435534.1_Intron|TUBB_ENST00000330914.3_Frame_Shift_Del_p.MSG161fs			P07437	TBB5_HUMAN	tubulin, beta class I	233					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	CTCAGCCACCATGAGTGGTGTCACCACC	0.543													91	553	---	---	---	---					
DDR1	780	broad.mit.edu	37	6	30859788	30859789	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:30859788_30859789insG	ENST00000324771.8	+	9	1223_1224	c.675_676insG	c.(673-678)taggggfs	p.*G225fs	DDR1_ENST00000376575.3_Frame_Shift_Ins_p.*G225fs|DDR1_ENST00000376570.4_Frame_Shift_Ins_p.*G225fs|DDR1_ENST00000446312.1_Frame_Shift_Ins_p.R192fs|DDR1_ENST00000376569.3_Frame_Shift_Ins_p.*G225fs|DDR1_ENST00000376568.3_Frame_Shift_Ins_p.*G225fs|DDR1_ENST00000513240.1_Frame_Shift_Ins_p.*G225fs|DDR1_ENST00000454612.2_Frame_Shift_Ins_p.*G225fs|DDR1_ENST00000452441.1_Frame_Shift_Ins_p.*G225fs|DDR1_ENST00000361741.4_5'UTR|DDR1_ENST00000376567.2_Frame_Shift_Ins_p.*G225fs|DDR1_ENST00000508472.1_3'UTR|DDR1_ENST00000418800.2_Frame_Shift_Ins_p.*G225fs|DDR1_ENST00000508312.1_Frame_Shift_Ins_p.*G243fs			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	225					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)	GACTGCAGTATGGGGGTCTGGG	0.599													7	780	---	---	---	---					
DDR1	780	broad.mit.edu	37	6	30864840	30864841	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:30864840_30864841insC	ENST00000324771.8	+	16	2467_2468	c.1919_1920insC	c.(1918-1920)tccfs	p.S640fs	DDR1_ENST00000376575.3_Frame_Shift_Ins_p.S640fs|DDR1_ENST00000376570.4_Frame_Shift_Ins_p.S603fs|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376569.3_Frame_Shift_Ins_p.S603fs|DDR1_ENST00000376568.3_Frame_Shift_Ins_p.S640fs|DDR1_ENST00000513240.1_Frame_Shift_Ins_p.S640fs|DDR1_ENST00000454612.2_Frame_Shift_Ins_p.S603fs|DDR1_ENST00000452441.1_Frame_Shift_Ins_p.S640fs|DDR1_ENST00000361741.4_Frame_Shift_Ins_p.S307fs|DDR1_ENST00000376567.2_Frame_Shift_Ins_p.S603fs|DDR1_ENST00000418800.2_Frame_Shift_Ins_p.S603fs|DDR1_ENST00000508312.1_Frame_Shift_Ins_p.S621fs			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	640	Protein kinase.				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)	AGTCTTGATTTCCCCCTTAATG	0.525													8	742	---	---	---	---					
MICB	4277	broad.mit.edu	37	6	31474800	31474801	+	Splice_Site	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:31474800_31474801insC	ENST00000252229.6	+	4	694_695	c.613_splice	c.e4-1	p.VP205_splice	MICB_ENST00000399150.3_Splice_Site_p.VP162_splice|MICB_ENST00000538442.1_Splice_Site_p.VP173_splice	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	205					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						CTTCTCCAGTGCCCCCCATGGT	0.574													12	554	---	---	---	---					
DDX39B	7919	broad.mit.edu	37	6	31500690	31500691	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:31500690_31500691insG	ENST00000417556.2	-	8	1411		c.e8-2		DDX39B_ENST00000458640.1_Splice_Site|ATP6V1G2-DDX39B_ENST00000376185.1_Splice_Site|DDX39B_ENST00000376177.2_Splice_Site|DDX39B_ENST00000396172.1_Splice_Site|DDX39B_ENST00000415382.2_Splice_Site			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B						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						CTCCATTGGCTgggggggagga	0.579													19	299	---	---	---	---					
BAG6	7917	broad.mit.edu	37	6	31608570	31608571	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:31608570_31608571insG	ENST00000404765.2	-	21	3221_3222	c.2934_splice	c.e21+1	p.A978_splice	BAG6_ENST00000362049.6_Splice_Site_p.A942_splice|BAG6_ENST00000375976.4_Splice_Site_p.A942_splice|BAG6_ENST00000439687.2_Splice_Site_p.A816_splice|BAG6_ENST00000375964.6_Splice_Site_p.A948_splice|BAG6_ENST00000211379.5_Splice_Site_p.A942_splice			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	948					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GTCCCTTACCTGGGGGGGATCA	0.535													34	760	---	---	---	---					
BAG6	7917	broad.mit.edu	37	6	31608920	31608921	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:31608920_31608921insC	ENST00000404765.2	-	20	3036_3037	c.2747_2748insG	c.(2746-2748)gcafs	p.A916fs	BAG6_ENST00000362049.6_Frame_Shift_Ins_p.A880fs|BAG6_ENST00000375976.4_Frame_Shift_Ins_p.A880fs|BAG6_ENST00000439687.2_Frame_Shift_Ins_p.A754fs|BAG6_ENST00000375964.6_Frame_Shift_Ins_p.A886fs|BAG6_ENST00000211379.5_Frame_Shift_Ins_p.A880fs			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	886					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CCATCTGCTGTCCCCCCAAGCA	0.515													21	1804	---	---	---	---					
BAG6	7917	broad.mit.edu	37	6	31617054	31617055	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:31617054_31617055insG	ENST00000404765.2	-	4	633_634	c.344_345insC	c.(343-345)cggfs	p.R115fs	BAG6_ENST00000362049.6_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000375976.4_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000439687.2_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000375964.6_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000211379.5_Frame_Shift_Ins_p.R115fs			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	115					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	p.P115fs*53(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CCCGAGTACCAGGGGGGGATCC	0.594													13	500	---	---	---	---					
C6orf25	80739	broad.mit.edu	37	6	31692528	31692529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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_ENST00000480039.1_Intron|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs	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													43	640	---	---	---	---					
VARS	7407	broad.mit.edu	37	6	31759454	31759455	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:31759454_31759455insG	ENST00000375663.3	-	8	1472_1473	c.1032_1033insC	c.(1030-1035)ccatgtfs	p.C345fs	VARS_ENST00000444930.2_Frame_Shift_Ins_p.C50fs	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	345					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CCTGTCACATTGGGGGGTGGGA	0.564													11	698	---	---	---	---					
CFB	629	broad.mit.edu	37	6	31911214	31911215	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:31911214_31911215insG	ENST00000556679.1	+	9	1073_1074	c.1018_1019insG	c.(1018-1020)gggfs	p.G340fs	C2_ENST00000452323.2_Frame_Shift_Ins_p.G279fs|CFB_ENST00000477310.1_Frame_Shift_Ins_p.G264fs|C2_ENST00000469372.1_Frame_Shift_Ins_p.G247fs|C2_ENST00000442278.2_Frame_Shift_Ins_p.G361fs|C2_ENST00000299367.5_Frame_Shift_Ins_p.G493fs|CFB_ENST00000456570.1_Frame_Shift_Ins_p.G340fs			P00751	CFAB_HUMAN	complement factor B	512	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AGAGACCTGCCGGGGGGCCCTC	0.589													8	679	---	---	---	---					
C2	717	broad.mit.edu	37	6	31912797	31912798	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:31912797_31912798insT	ENST00000299367.5	+	17	2346_2347	c.2070_2071insT	c.(2068-2073)agttttfs	p.SF690fs	C2_ENST00000452323.2_Frame_Shift_Ins_p.SF476fs|CFB_ENST00000477310.1_Intron|C2_ENST00000469372.1_Frame_Shift_Ins_p.SF444fs|C2_ENST00000468407.1_3'UTR|C2_ENST00000442278.2_Frame_Shift_Ins_p.SF558fs|CFB_ENST00000556679.1_Intron|CFB_ENST00000456570.1_Intron	NM_000063.4	NP_000054.2			complement component 2											haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GGAGATTCAGGTTTTTTCAGGT	0.545													8	285	---	---	---	---					
TNXB	7148	broad.mit.edu	37	6	32049423	32049424	+	Frame_Shift_Ins	INS	-	-	G	rs12211410	by1000genomes	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:32049423_32049424insG	ENST00000375244.3	-	10	3964_3965	c.3763_3764insC	c.(3763-3765)cccfs	p.P1255fs	TNXB_ENST00000375247.2_Frame_Shift_Ins_p.P1255fs			P22105	TENX_HUMAN	tenascin XB	1342	Fibronectin type-III 5.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAACTCAGGGCGGGGGGGCTCC	0.639													9	126	---	---	---	---					
FKBPL	63943	broad.mit.edu	37	6	32097085	32097086	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:32097085_32097086insC	ENST00000375156.3	-	2	742_743	c.472_473insG	c.(472-474)gctfs	p.A158fs		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	158					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										CTCTATGAGCTCCCCCCAAGTT	0.589													25	767	---	---	---	---					
NOTCH4	4855	broad.mit.edu	37	6	32181928	32181929	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:32181928_32181929insG	ENST00000375023.3	-	13	2263_2264	c.2125_2126insC	c.(2125-2127)gccfs	p.A709fs	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	709	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						GCCAGAGGGCTGGGGGTAGCAG	0.604													7	1832	---	---	---	---					
NOTCH4	4855	broad.mit.edu	37	6	32181941	32181942	+	Frame_Shift_Ins	INS	-	-	C	rs143622513		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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	1653	---	---	---	---					
NOTCH4	4855	broad.mit.edu	37	6	32181972	32181973	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:32181972_32181973insC	ENST00000375023.3	-	13	2219_2220	c.2081_2082insG	c.(2080-2082)gtgfs	p.V694fs	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	694	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						CAGAGATGCAGCCCCCTAGCTC	0.589													8	1603	---	---	---	---					
TAP2	6891	broad.mit.edu	37	6	32798430	32798431	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:32798430_32798431insA	ENST00000374897.2	-	8	1556_1557	c.1425_1426insT	c.(1423-1428)ttcatafs	p.I476fs	TAP2_ENST00000374899.4_Frame_Shift_Ins_p.I476fs|TAP2_ENST00000452392.2_Frame_Shift_Ins_p.I476fs	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	476	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										TTGGGATATGCAAAGGAGACGT	0.540													10	536	---	---	---	---					
BRD2	6046	broad.mit.edu	37	6	32948228	32948229	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:32948228_32948229insC	ENST00000395289.2	+	13	3962_3963	c.2361_2362insC	c.(2359-2364)aaccccfs	p.NP787fs	BRD2_ENST00000374831.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000395287.1_Frame_Shift_Ins_p.NP787fs|BRD2_ENST00000374825.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000443797.2_Frame_Shift_Ins_p.NP632fs|BRD2_ENST00000449085.2_Frame_Shift_Ins_p.NP705fs			P25440	BRD2_HUMAN	bromodomain containing 2	752	ET.|Poly-Ser.|Ser-rich.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CTACTAAAAAGCCCCCCAAGAA	0.426													8	315	---	---	---	---					
RING1	6015	broad.mit.edu	37	6	33178989	33178990	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:33178989_33178990insG	ENST00000374656.4	+	5	718_719	c.510_511insG	c.(508-513)agggggfs	p.RG170fs	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	170	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CAACGATGAGTGGGGGGGAAGG	0.619													29	578	---	---	---	---					
KIFC1	3833	broad.mit.edu	37	6	33374111	33374112	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:33374111_33374112insC	ENST00000428849.2	+	8	2125_2126	c.1675_1676insC	c.(1675-1677)cccfs	p.P559fs		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	559	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GCAGTGTGGGGCCCCCCTCAGT	0.644													7	525	---	---	---	---					
SYNGAP1	8831	broad.mit.edu	37	6	33399975	33399976	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:33399975_33399976insG	ENST00000418600.2	+	4	434_435	c.333_334insG	c.(331-336)ccggggfs	p.PG111fs	SYNGAP1_ENST00000428982.2_Frame_Shift_Ins_p.PG52fs|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Frame_Shift_Ins_p.PG111fs	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	111					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						AGAGTGTCCCAGGGGGGAAGCA	0.639													7	405	---	---	---	---					
PACSIN1	29993	broad.mit.edu	37	6	34498057	34498058	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:34498057_34498058insG	ENST00000538621.1	+	7	1071_1072	c.826_827insG	c.(826-828)gggfs	p.G276fs	PACSIN1_ENST00000374043.2_Frame_Shift_Ins_p.G234fs|PACSIN1_ENST00000244458.2_Frame_Shift_Ins_p.G276fs	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	276					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GCAGGCCATCCGGGGGGCTGAT	0.609													10	210	---	---	---	---					
SCUBE3	222663	broad.mit.edu	37	6	35213107	35213108	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:35213107_35213108insC	ENST00000274938.7	+	19	2504_2505	c.2504_2505insC	c.(2503-2505)accfs	p.T835fs	SCUBE3_ENST00000394681.1_Frame_Shift_Ins_p.T851fs	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	835	CUB.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						TGGAACATCAACCCCCCACCCA	0.559													9	394	---	---	---	---					
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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				19	366	---	---	---	---					
PNPLA1	285848	broad.mit.edu	37	6	36262160	36262161	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:36262160_36262161insC	ENST00000394571.2	+	4	698_699	c.698_699insC	c.(697-699)tccfs	p.S233fs	PNPLA1_ENST00000312917.5_Frame_Shift_Ins_p.S147fs|PNPLA1_ENST00000388715.3_Frame_Shift_Ins_p.S138fs	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	233					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CACGCATTGTTCCCCCCGGACC	0.619													7	290	---	---	---	---					
TRERF1	55809	broad.mit.edu	37	6	42231008	42231009	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:42231008_42231009insG	ENST00000541110.1	-	8	2501_2502	c.1933_1934insC	c.(1933-1935)cacfs	p.H645fs	TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000372922.4_Intron|TRERF1_ENST00000372917.4_Intron			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	628	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGCAGGCGTGCGGGGGGCAGCC	0.644													9	173	---	---	---	---					
PTK7	5754	broad.mit.edu	37	6	43111195	43111196	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:43111195_43111196insC	ENST00000230419.4	+	14	2309_2310	c.2088_2089insC	c.(2086-2091)ccccccfs	p.PP696fs	PTK7_ENST00000352931.2_Frame_Shift_Ins_p.PP640fs|PTK7_ENST00000345201.2_Frame_Shift_Ins_p.PP656fs|PTK7_ENST00000481273.1_Frame_Shift_Ins_p.PP704fs|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)	12	967	---	---	---	---					
DLK2	65989	broad.mit.edu	37	6	43418590	43418591	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:43418590_43418591insG	ENST00000357338.3	-	6	1538_1539	c.838_839insC	c.(838-840)cagfs	p.Q280fs	DLK2_ENST00000414245.1_Frame_Shift_Ins_p.Q274fs|DLK2_ENST00000372485.1_Frame_Shift_Ins_p.Q274fs|DLK2_ENST00000372488.3_Frame_Shift_Ins_p.Q280fs	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	280						integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCCTGCGCTGTGGGGGGCTGGC	0.644													8	309	---	---	---	---					
TMEM63B	55362	broad.mit.edu	37	6	44102435	44102436	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:44102435_44102436insG	ENST00000259746.9	+	2	297_298	c.114_115insG	c.(112-117)ttggggfs	p.LG38fs	TMEM63B_ENST00000323267.6_Frame_Shift_Ins_p.LG38fs			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	38						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			GCCTGCCCTTTGGGGGCGTCCC	0.624													9	362	---	---	---	---					
TNFRSF21	27242	broad.mit.edu	37	6	47253988	47253989	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:47253988_47253989insG	ENST00000296861.2	-	2	832_833	c.439_440insC	c.(439-441)tacfs	p.Y147fs		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	147					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			ACACACCGTATGGGGGGCACAG	0.554													9	1370	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													12	222	---	---	---	---					
KHDRBS2	202559	broad.mit.edu	37	6	62604601	62604602	+	Frame_Shift_Ins	INS	-	-	C	rs150391619	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:62604601_62604602insC	ENST00000281156.4	-	6	1026_1027	c.748_749insG	c.(748-750)accfs	p.T250fs		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	250	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CACTGTTGGTGCCCCCCGGGCT	0.540													14	203	---	---	---	---					
RIMS1	22999	broad.mit.edu	37	6	73110317	73110318	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:73110317_73110318insG	ENST00000264839.7	+	30	4527_4528	c.4527_4528insG	c.(4525-4530)cccgtcfs	p.V1510fs	RIMS1_ENST00000520567.1_Frame_Shift_Ins_p.V1311fs|RIMS1_ENST00000401910.3_Frame_Shift_Ins_p.V981fs|RIMS1_ENST00000518273.1_Frame_Shift_Ins_p.V1340fs|RIMS1_ENST00000517960.1_Frame_Shift_Ins_p.V1444fs|RIMS1_ENST00000538414.1_Frame_Shift_Ins_p.V467fs|RIMS1_ENST00000517827.1_Frame_Shift_Ins_p.V795fs|RIMS1_ENST00000491071.2_Frame_Shift_Ins_p.V1450fs|RIMS1_ENST00000348717.5_Frame_Shift_Ins_p.V1444fs|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000521978.1_Frame_Shift_Ins_p.V1661fs|RIMS1_ENST00000414192.2_Frame_Shift_Ins_p.V188fs|RIMS1_ENST00000523963.1_Frame_Shift_Ins_p.V786fs|RIMS1_ENST00000522291.1_Frame_Shift_Ins_p.V1260fs|RIMS1_ENST00000425662.2_Frame_Shift_Ins_p.V729fs			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1661					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AATTGTTCCCACCGTCCTCACT	0.530													16	348	---	---	---	---					
TMEM30A	55754	broad.mit.edu	37	6	75994292	75994293	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:75994292_75994293insC	ENST00000230461.6	-	1	391_392	c.62_63insG	c.(61-63)gacfs	p.D21fs	TMEM30A_ENST00000475111.2_Frame_Shift_Ins_p.D21fs	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	21						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCTTCGCGGTGCCCCCCGGAGC	0.624													11	401	---	---	---	---					
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													18	464	---	---	---	---					
GABRR2	2570	broad.mit.edu	37	6	90024941	90024942	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:90024941_90024942insC	ENST00000602399.1	-	1	25_26	c.18_19insG	c.(16-21)ggtttgfs	p.L7fs	GABRR2_ENST00000402938.3_5'UTR|GABRR2_ENST00000602808.1_5'UTR	NM_002043.2	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	7					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		GCAGAGCAAATCCCCCCTGGCT	0.500													7	1769	---	---	---	---					
KIAA1919	91749	broad.mit.edu	37	6	111587105	111587106	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:111587105_111587106insG	ENST00000368847.4	+	4	693_694	c.340_341insG	c.(340-342)gggfs	p.G114fs		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	114					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		CTTGGCTATTTGGGGGGACAAA	0.416													16	525	---	---	---	---					
ROS1	6098	broad.mit.edu	37	6	117714408	117714409	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:117714408_117714409insT	ENST00000368508.3	-	11	1438_1439	c.1240_1241insA	c.(1240-1242)tgtfs	p.C414fs	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Frame_Shift_Ins_p.C423fs	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	414					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATCAGCCACAATTTTTTGAGGT	0.347			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								10	1339	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													17	436	---	---	---	---					
SOGA3	387104	broad.mit.edu	37	6	127837037	127837038	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:127837037_127837038insC	ENST00000556132.1	-	2	1586_1587	c.722_723insG	c.(721-723)gggfs	p.G241fs	SOGA3_ENST00000368268.2_Frame_Shift_Ins_p.G241fs|SOGA3_ENST00000465909.2_Frame_Shift_Ins_p.G241fs|SOGA3_ENST00000525778.1_Frame_Shift_Ins_p.G241fs|SOGA3_ENST00000481848.2_Frame_Shift_Ins_p.G241fs	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	241	Gly-rich.					integral to membrane											CACCGCTGCCGCCCCCCGCAAC	0.673													13	302	---	---	---	---					
CTGF	1490	broad.mit.edu	37	6	132270567	132270568	+	Frame_Shift_Ins	INS	-	-	G	rs15960		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:132270567_132270568insG	ENST00000367976.3	-	5	1086_1087	c.886_887insC	c.(886-888)cagfs	p.Q296fs		NM_001901.2	NP_001892.1	P29279	CTGF_HUMAN	connective tissue growth factor	296	CTCK.|Heparin-binding.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GGTGGTTCTGTGGGGGGTGCAG	0.530													8	516	---	---	---	---					
PHACTR2	9749	broad.mit.edu	37	6	144086745	144086746	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:144086745_144086746insC	ENST00000427704.2	+	6	1139_1140	c.1009_1010insC	c.(1009-1011)cccfs	p.P337fs	PHACTR2_ENST00000367582.3_Frame_Shift_Ins_p.P268fs|PHACTR2_ENST00000367584.4_Frame_Shift_Ins_p.P325fs|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.P348fs|PHACTR2_ENST00000305766.6_Frame_Shift_Ins_p.P257fs	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	337							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TTCTCCTCTGGCCCCCCCTCTC	0.584													11	253	---	---	---	---					
LPA	4018	broad.mit.edu	37	6	160963769	160963770	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:160963769_160963770insC	ENST00000447678.1	-	35	5589_5590	c.5469_5470insG	c.(5467-5472)gggtgtfs	p.C1824fs	LPA_ENST00000316300.5_Frame_Shift_Ins_p.C1824fs|LPA_ENST00000484276.1_5'UTR	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4332	Kringle 16.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.C1824G(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGGCCACACACCCCCCTACAA	0.525													7	530	---	---	---	---					
MAP3K4	4216	broad.mit.edu	37	6	161455390	161455391	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:161455390_161455391insC	ENST00000392142.4	+	2	400_401	c.252_253insC	c.(250-255)tcccccfs	p.SP84fs	MAP3K4_ENST00000366920.2_Frame_Shift_Ins_p.SP84fs|MAP3K4_ENST00000446500.1_3'UTR|MAP3K4_ENST00000348824.7_Frame_Shift_Ins_p.SP84fs|MAP3K4_ENST00000366919.2_Frame_Shift_Ins_p.SP84fs	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	84					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ATGGTACCTCTCCCCCCAGCAC	0.475													12	388	---	---	---	---					
PARK2	5071	broad.mit.edu	37	6	161969904	161969905	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:161969904_161969905insC	ENST00000366898.1	-	9	1166_1167	c.1064_1065insG	c.(1063-1065)gaafs	p.E355fs	PARK2_ENST00000366892.1_Frame_Shift_Ins_p.E355fs|PARK2_ENST00000338468.3_Frame_Shift_Ins_p.E164fs|PARK2_ENST00000366894.1_Frame_Shift_Ins_p.E164fs|PARK2_ENST00000366896.1_Frame_Shift_Ins_p.E206fs|PARK2_ENST00000366897.1_Frame_Shift_Ins_p.E327fs	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	355					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CCAGGCCATTGCCCCCTTCGCA	0.599													8	465	---	---	---	---					
BRAT1	221927	broad.mit.edu	37	7	2583460	2583461	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:2583460_2583461insC	ENST00000340611.4	-	5	822_823	c.566_567insG	c.(565-567)ggafs	p.G189fs		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	189					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						CGGGCCAGTCACCCCCCGGCAG	0.658													11	517	---	---	---	---					
DAGLB	221955	broad.mit.edu	37	7	6474590	6474591	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:6474590_6474591insC	ENST00000297056.6	-	4	649_650	c.480_481insG	c.(478-483)ggaaatfs	p.N161fs	DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000436575.1_Frame_Shift_Ins_p.N120fs|DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000428902.2_Frame_Shift_Ins_p.N34fs	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	161					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GGAGCCATTTTCCCCCCAAGAG	0.525													7	302	---	---	---	---					
PHF14	9678	broad.mit.edu	37	7	11022425	11022426	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:11022425_11022426insA	ENST00000403050.3	+	3	991_992	c.539_540insA	c.(538-540)caafs	p.Q180fs	PHF14_ENST00000445996.2_Intron	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	180							zinc ion binding	p.K182fs*19(1)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		GTCAGCGAGCCAAAAAAATGGA	0.490													7	197	---	---	---	---					
GARS	2617	broad.mit.edu	37	7	30671997	30671998	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:30671997_30671998insC	ENST00000389266.3	+	16	2279_2280	c.2038_2039insC	c.(2038-2040)cccfs	p.P680fs		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	680					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	AGTGAACAAGACCCCCCACACT	0.500													8	695	---	---	---	---					
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-378)accfs	p.T126fs	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_5'UTR|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446													13	277	---	---	---	---					
COBL	23242	broad.mit.edu	37	7	51287561	51287562	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													8	151	---	---	---	---					
EGFR	1956	broad.mit.edu	37	7	55221747	55221748	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:55221747_55221748insC	ENST00000275493.2	+	7	968_969	c.791_792insC	c.(790-792)tccfs	p.S264fs	EGFR_ENST00000344576.2_Frame_Shift_Ins_p.S264fs|EGFR_ENST00000420316.2_Frame_Shift_Ins_p.S264fs|EGFR_ENST00000455089.1_Frame_Shift_Ins_p.S219fs|EGFR_ENST00000342916.3_Frame_Shift_Ins_p.S264fs|EGFR_ENST00000442591.1_Frame_Shift_Ins_p.S264fs|EGFR_ENST00000454757.2_Frame_Shift_Ins_p.S211fs	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	264					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAGGACACCTGCCCCCCACTCA	0.579		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			11	838	---	---	---	---					
FKBP6	8468	broad.mit.edu	37	7	72744267	72744268	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:72744267_72744268insC	ENST00000252037.4	+	4	449_450	c.380_381insC	c.(379-381)accfs	p.T127fs	FKBP6_ENST00000431982.2_Frame_Shift_Ins_p.T122fs|FKBP6_ENST00000413573.2_Frame_Shift_Ins_p.T97fs	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	127	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCTCCCTTGATCCCCCCAAACA	0.550													8	632	---	---	---	---					
LIMK1	3984	broad.mit.edu	37	7	73535322	73535323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:73535322_73535323insC	ENST00000418310.1	+	15	1916_1917	c.1814_1815insC	c.(1813-1815)tccfs	p.S605fs	LIMK1_ENST00000538333.3_Frame_Shift_Ins_p.S541fs|LIMK1_ENST00000336180.2_Frame_Shift_Ins_p.S575fs			P53667	LIMK1_HUMAN	LIM domain kinase 1	575					actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				CCCCCAAACTGCCCCCCGAGCT	0.653													8	230	---	---	---	---					
FGL2	10875	broad.mit.edu	37	7	76826169	76826170	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:76826169_76826170insC	ENST00000248598.5	-	2	778_779	c.746_747insG	c.(745-747)gggfs	p.G249fs	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	249	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CTGTCCAGCCTCCCCCCATGGT	0.480													9	289	---	---	---	---					
FGL2	10875	broad.mit.edu	37	7	76828921	76828922	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:76828921_76828922insG	ENST00000248598.5	-	1	221_222	c.189_190insC	c.(187-192)cctgacfs	p.D64fs	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	64					signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TGAATAGTCAAGGGGGGCAGGC	0.480													7	439	---	---	---	---					
ABCB4	5244	broad.mit.edu	37	7	87081037	87081038	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:87081037_87081038insA	ENST00000265723.4	-	7	720_721	c.609_610insT	c.(607-612)ttcaggfs	p.R204fs	ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.R204fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	204	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					ATGAATCCTGCAAAAAACGTGG	0.446													8	681	---	---	---	---					
AKAP9	10142	broad.mit.edu	37	7	91732038	91732039	+	Frame_Shift_Ins	INS	-	-	G	rs143306820		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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								51	730	---	---	---	---					
DLX6	1750	broad.mit.edu	37	7	96639275	96639276	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:96639275_96639276insC	ENST00000518156.2	+	3	1228_1229	c.798_799insC	c.(796-801)atccccfs	p.IP266fs	DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6_ENST00000555308.1_Frame_Shift_Ins_p.IP138fs|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000007660.5_Frame_Shift_Ins_p.IP238fs			P56179	DLX6_HUMAN	distal-less homeobox 6	148					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GTGTCAGTATGCCCCCCAACAG	0.619													13	351	---	---	---	---					
LMTK2	22853	broad.mit.edu	37	7	97800895	97800896	+	Frame_Shift_Ins	INS	-	-	G	rs142433566	by1000genomes	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:97800895_97800896insG	ENST00000297293.5	+	7	993_994	c.700_701insG	c.(700-702)gggfs	p.G234fs		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	234	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R234L(1)		NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GGAGCACATGCGGGGGGACTCA	0.614													27	2032	---	---	---	---					
TRRAP	8295	broad.mit.edu	37	7	98592294	98592295	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:98592294_98592295insC	ENST00000359863.4	+	66	10299_10300	c.10090_10091insC	c.(10090-10092)cccfs	p.P3364fs	TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.P3335fs|TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.P3353fs	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3364					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCTAAAATCACCCCCCACACT	0.540													12	1064	---	---	---	---					
TRRAP	8295	broad.mit.edu	37	7	98609744	98609745	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:98609744_98609745insA	ENST00000359863.4	+	72	11555_11556	c.11346_11347insA	c.(11344-11349)caaaaafs	p.QK3782fs	TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.QK3753fs|TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.QK3771fs	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3782	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTGCTTGGCACAAAAAAACACA	0.550													15	854	---	---	---	---					
AZGP1	563	broad.mit.edu	37	7	99564707	99564708	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:99564707_99564708insG	ENST00000292401.4	-	4	951_952	c.815_816insC	c.(814-816)ccafs	p.P272fs	AZGP1_ENST00000411734.1_3'UTR|AZGP1_ENST00000483612.1_5'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	272	Ig-like C1-type.				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CTGTGTCCTGCGGGGGCACTGC	0.649													7	1076	---	---	---	---					
AP4M1	9179	broad.mit.edu	37	7	99701730	99701731	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:99701730_99701731insT	ENST00000429084.1	+	7	738_739	c.580_581insT	c.(580-582)tttfs	p.F194fs	AP4M1_ENST00000422582.1_Frame_Shift_Ins_p.F59fs|AP4M1_ENST00000421755.1_Frame_Shift_Ins_p.F187fs|AP4M1_ENST00000359593.4_Frame_Shift_Ins_p.F187fs			O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	187	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAAGAATGAAGTTTTTTTGGAT	0.436													9	502	---	---	---	---					
SPDYE3	441272	broad.mit.edu	37	7	99912173	99912174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:99912173_99912174insC	ENST00000332397.6	+	6	1185_1186	c.1001_1002insC	c.(1000-1002)accfs	p.T334fs	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	334										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTAGATCCCAGCCCCCCGCGTA	0.569													53	1588	---	---	---	---					
ZCWPW1	55063	broad.mit.edu	37	7	100002679	100002680	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100002679_100002680insC	ENST00000398027.2	-	13	1454_1455	c.1207_1208insG	c.(1207-1209)ggcfs	p.G403fs	ZCWPW1_ENST00000490721.1_Frame_Shift_Ins_p.G283fs|ZCWPW1_ENST00000324725.6_Frame_Shift_Ins_p.G283fs|ZCWPW1_ENST00000360951.4_Frame_Shift_Ins_p.G404fs	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	403							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)					CATCAGGGCCACCCCCAGTTTC	0.470													11	2006	---	---	---	---					
MEPCE	56257	broad.mit.edu	37	7	100029247	100029248	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100029247_100029248insC	ENST00000310512.2	+	1	1994_1995	c.1606_1607insC	c.(1606-1608)cccfs	p.P536fs	MEPCE_ENST00000414441.1_Frame_Shift_Ins_p.P67fs	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	536	Bin3-type SAM.						methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCCATCGCTGCCCCCCAAGTG	0.629													9	218	---	---	---	---					
AGFG2	3268	broad.mit.edu	37	7	100146456	100146457	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100146456_100146457insC	ENST00000300176.4	+	2	355_356	c.233_234insC	c.(232-234)accfs	p.T78fs	AGFG2_ENST00000262935.4_Frame_Shift_Ins_p.T78fs	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	78	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGAGGGCTGAACCCCCCTCATC	0.510													12	1434	---	---	---	---					
AGFG2	3268	broad.mit.edu	37	7	100150975	100150976	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100150975_100150976insC	ENST00000300176.4	+	4	559_560	c.437_438insC	c.(436-438)gccfs	p.A146fs	AGFG2_ENST00000262935.4_Intron|AGFG2_ENST00000474713.1_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	146	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAAAGGTATGTCCCCCCAGACC	0.515													17	1176	---	---	---	---					
FBXO24	26261	broad.mit.edu	37	7	100187685	100187686	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100187685_100187686insC	ENST00000241071.6	+	2	447_448	c.125_126insC	c.(124-126)tccfs	p.S42fs	FBXO24_ENST00000427939.2_Frame_Shift_Ins_p.S80fs|FBXO24_ENST00000498195.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Frame_Shift_Ins_p.S42fs|FBXO24_ENST00000468962.1_Frame_Shift_Ins_p.S30fs|FBXO24_ENST00000360609.2_Frame_Shift_Ins_p.S42fs	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	42	F-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ATCCAGTTGTTCCCCCCAGAGC	0.569													26	1400	---	---	---	---					
FBXO24	26261	broad.mit.edu	37	7	100192728	100192729	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100192728_100192729insG	ENST00000241071.6	+	7	1278_1279	c.956_957insG	c.(955-957)cggfs	p.R319fs	PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000427939.2_Frame_Shift_Ins_p.R357fs|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Intron|FBXO24_ENST00000468962.1_Frame_Shift_Ins_p.R307fs|FBXO24_ENST00000360609.2_Intron	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	319						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCCAGACCAGGGGGGAGTGT	0.579													9	772	---	---	---	---					
FBXO24	26261	broad.mit.edu	37	7	100198315	100198316	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100198315_100198316insG	ENST00000241071.6	+	10	1858_1859	c.1536_1537insG	c.(1534-1539)ccggggfs	p.PG512fs	PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000427939.2_Frame_Shift_Ins_p.PG550fs|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000468962.1_Frame_Shift_Ins_p.PG500fs|FBXO24_ENST00000360609.2_3'UTR	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	512						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCAGGACCCCGGGGGGATGGC	0.658													11	635	---	---	---	---					
ACTL6B	51412	broad.mit.edu	37	7	100245130	100245131	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100245130_100245131insG	ENST00000160382.5	-	8	801_802	c.695_696insC	c.(694-696)caafs	p.Q232fs		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	232					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCTTCCAGTTTGGGGGGGCACC	0.609													11	268	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100361617	100361617	+	RNA	DEL	C	C	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100361617delC	ENST00000542585.1	+	0	4245				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCCCTTCCACTGCATTCCCC	0.597													73	467	---	---	---	---					
SLC12A9	56996	broad.mit.edu	37	7	100459489	100459490	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100459489_100459490insG	ENST00000354161.3	+	12	1792_1793	c.1667_1668insG	c.(1666-1668)aggfs	p.R556fs	SLC12A9_ENST00000540482.1_Frame_Shift_Ins_p.R556fs|SLC12A9_ENST00000428758.1_Frame_Shift_Ins_p.R556fs|SLC12A9_ENST00000415287.1_Frame_Shift_Ins_p.R467fs|SLC12A9_ENST00000275729.3_Frame_Shift_Ins_p.R467fs	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	556						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAGCTTAAGAAGGGGGGGCTGT	0.644													20	364	---	---	---	---					
TRIP6	7205	broad.mit.edu	37	7	100465745	100465746	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100465745_100465746insG	ENST00000200457.4	+	3	613_614	c.253_254insG	c.(253-255)gggfs	p.G85fs		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	85					focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCTGCAGACAGGGGGGGCCTT	0.639													19	398	---	---	---	---					
SRRT	51593	broad.mit.edu	37	7	100479331	100479332	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100479331_100479332insG	ENST00000388793.4	+	4	523_524	c.303_304insG	c.(301-306)gcggggfs	p.AG101fs	SRRT_ENST00000347433.4_Frame_Shift_Ins_p.AG101fs|SRRT_ENST00000432932.1_Frame_Shift_Ins_p.AG101fs|SRRT_ENST00000457580.2_Frame_Shift_Ins_p.AG101fs	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	101					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.G104fs*45(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGCCCTATGCTGGGGGGGGTGG	0.609													60	716	---	---	---	---					
MUC3A	4584	broad.mit.edu	37	7	100549660	100549661	+	Frame_Shift_Ins	INS	-	-	C	rs71226713		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100549660_100549661insC	ENST00000379458.4	+	2	241_242	c.241_242insC	c.(241-243)cccfs	p.P81fs	MUC3A_ENST00000483366.1_3'UTR					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ACTCACTACCTCCCCCCATGAC	0.559													10	873	---	---	---	---					
MUC3A	4584	broad.mit.edu	37	7	100607796	100607797	+	Frame_Shift_Ins	INS	-	-	C	rs116868006	by1000genomes	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100607796_100607797insC	ENST00000319509.7	+	5	1943_1944	c.1943_1944insC	c.(1942-1944)accfs	p.T648fs	RP11-395B7.2_ENST00000420080.1_RNA|RP11-395B7.2_ENST00000434775.1_RNA					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ATGCCCTTCAGCCCCCAGCTGG	0.614													11	2215	---	---	---	---					
MUC17	140453	broad.mit.edu	37	7	100679534	100679535	+	In_Frame_Ins	INS	-	-	CTC			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100679534_100679535insCTC	ENST00000306151.4	+	3	4901_4902	c.4837_4838insCTC	c.(4837-4839)tac>CTCtac	p.1612_1613insL		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1612	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCCAGTTCATCTACAACCGCT	0.500													18	735	---	---	---	---					
MUC17	140453	broad.mit.edu	37	7	100682859	100682863	+	Frame_Shift_Del	DEL	CACCT	CACCT	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100682859_100682863delCACCT	ENST00000306151.4	+	3	8226_8230	c.8162_8166delCACCT	c.(8161-8166)afs	p.TP2721fs		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2721	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GACACCAGCACACCTGTCACCACTT	0.468													9	1195	---	---	---	---					
MUC17	140453	broad.mit.edu	37	7	100696347	100696348	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100696347_100696348insG	ENST00000306151.4	+	10	13248_13249	c.13184_13185insG	c.(13183-13185)gggfs	p.G4395fs		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4395						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACGGCCTCGTGGGGGCAGGGG	0.599													7	1373	---	---	---	---					
TRIM56	81844	broad.mit.edu	37	7	100732112	100732113	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100732112_100732113insC	ENST00000306085.6	+	3	1816_1817	c.1519_1520insC	c.(1519-1521)cccfs	p.P507fs		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	507					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					AGACAAGCGGTCCCCCCGGATC	0.658													13	481	---	---	---	---					
NAT16	375607	broad.mit.edu	37	7	100816611	100816612	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100816611_100816612insG	ENST00000300303.2	-	3	740_741	c.502_503insC	c.(502-504)ggafs	p.G168fs	NAT16_ENST00000455377.1_Frame_Shift_Ins_p.G168fs	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	168	N-acetyltransferase.						N-acetyltransferase activity										CTTCAGCTCCCGGGGGCCCAGC	0.663													8	1818	---	---	---	---					
NAT16	375607	broad.mit.edu	37	7	100817873	100817874	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100817873_100817874insC	ENST00000300303.2	-	2	453_454	c.215_216insG	c.(214-216)gatfs	p.D72fs	NAT16_ENST00000455377.1_Frame_Shift_Ins_p.D72fs|NAT16_ENST00000443096.1_Frame_Shift_Ins_p.D72fs	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	72	N-acetyltransferase.						N-acetyltransferase activity										CGCCGTAGATGCCCCCCGAGAT	0.678													15	782	---	---	---	---					
PLOD3	8985	broad.mit.edu	37	7	100849705	100849708	+	Frame_Shift_Del	DEL	GGCA	GGCA	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100849705_100849708delGGCA	ENST00000223127.3	-	19	2469_2472	c.2071_2074delTGCC	c.(2071-2076)gcfs	p.CR691fs		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	691	Fe2OG dioxygenase.				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)	CGCAGGAAGCGGCAGCCACCTCCC	0.672													8	156	---	---	---	---					
PLOD3	8985	broad.mit.edu	37	7	100855840	100855841	+	Frame_Shift_Ins	INS	-	-	G	rs141101386	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:100855840_100855841insG	ENST00000223127.3	-	9	1373_1374	c.975_976insC	c.(973-978)ccacagfs	p.Q326fs		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	326					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)	GTGACCCTGTCGGGGGGATAGT	0.619													13	1053	---	---	---	---					
PLOD3	8985	broad.mit.edu	37	7	100856125	100856126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													62	661	---	---	---	---					
COL26A1	136227	broad.mit.edu	37	7	101183335	101183336	+	RNA	DEL	GT	GT	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:101183335_101183336delGT	ENST00000313669.7	+	0	796				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1																		CAGCCGGTGAGTGAGGGCTGCA	0.649													71	382	---	---	---	---					
MYL10	93408	broad.mit.edu	37	7	101256824	101256825	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:101256824_101256825insG	ENST00000223167.4	-	8	788_789	c.611_612insC	c.(610-612)cgafs	p.R204fs		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	204	EF-hand 3.					mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						CGCACACATCTGGGGGAAATGC	0.569													8	1224	---	---	---	---					
CUX1	1523	broad.mit.edu	37	7	101845357	101845358	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:101845357_101845358insC	ENST00000360264.3	+	18	2833_2834	c.2813_2814insC	c.(2812-2814)gccfs	p.A938fs	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000550008.2_Frame_Shift_Ins_p.A871fs|CUX1_ENST00000556210.1_Frame_Shift_Ins_p.A769fs|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Frame_Shift_Ins_p.A905fs|CUX1_ENST00000292535.7_Frame_Shift_Ins_p.A927fs|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Frame_Shift_Ins_p.A825fs|CUX1_ENST00000437600.4_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	927					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AAGCCCTCGGTCCCCCCGCTGA	0.644													11	798	---	---	---	---					
LAMB1	3912	broad.mit.edu	37	7	107594140	107594141	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:107594140_107594141insC	ENST00000393561.1	-	20	3169_3170	c.2985_2986insG	c.(2983-2988)ggcgtgfs	p.V996fs	LAMB1_ENST00000222399.6_Frame_Shift_Ins_p.V972fs			P07942	LAMB1_HUMAN	laminin, beta 1	972	Laminin EGF-like 10.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCTGACACGACCCCCCAACTT	0.505													11	809	---	---	---	---					
ST7	7982	broad.mit.edu	37	7	116869834	116869835	+	Frame_Shift_Ins	INS	-	-	C	rs150676488		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:116869834_116869835insC	ENST00000393443.1	+	16	2037_2038	c.1423_1424insC	c.(1423-1425)cccfs	p.P475fs	ST7_ENST00000393444.3_Frame_Shift_Ins_p.P487fs|ST7_ENST00000432298.1_Frame_Shift_Ins_p.P507fs|ST7_ENST00000393447.4_Frame_Shift_Ins_p.P510fs|ST7_ENST00000393446.2_Frame_Shift_Ins_p.P499fs|ST7_ENST00000422922.1_Frame_Shift_Ins_p.P484fs|ST7_ENST00000393449.1_Frame_Shift_Ins_p.P548fs|ST7_ENST00000323984.3_Frame_Shift_Ins_p.P553fs|ST7_ENST00000393451.3_Frame_Shift_Ins_p.P530fs			Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7	0						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CACTTTGTTTGCCCCCTTAAAC	0.495													8	3474	---	---	---	---					
GRM8	2918	broad.mit.edu	37	7	126173277	126173278	+	Frame_Shift_Ins	INS	-	-	G	rs77499554		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:126173277_126173278insG	ENST00000339582.2	-	9	2966_2967	c.2158_2159insC	c.(2158-2160)catfs	p.H720fs	GRM8_ENST00000358373.3_Frame_Shift_Ins_p.H720fs|GRM8_ENST00000444921.2_Frame_Shift_Ins_p.H720fs|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	720					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AATGATGATGTGGGGGGGATCC	0.505										HNSCC(24;0.065)			11	161	---	---	---	---					
FSCN3	29999	broad.mit.edu	37	7	127240251	127240252	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:127240251_127240252insG	ENST00000265825.5	+	6	1514_1515	c.1295_1296insG	c.(1294-1296)cggfs	p.R432fs	FSCN3_ENST00000420086.2_Splice_Site	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	432						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TCTCCAGCACAGGGGGGATCCT	0.574													7	719	---	---	---	---					
FLNC	2318	broad.mit.edu	37	7	128486940	128486941	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:128486940_128486941insG	ENST00000325888.8	+	24	4530_4531	c.4269_4270insG	c.(4267-4272)ttggggfs	p.LG1423fs	FLNC_ENST00000346177.6_Frame_Shift_Ins_p.LG1423fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1423					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACATCACCTTCGGGGGGCGGCC	0.599													12	676	---	---	---	---					
TMEM209	84928	broad.mit.edu	37	7	129813545	129813546	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:129813545_129813546insA	ENST00000397622.2	-	13	1605_1606	c.1483_1484insT	c.(1483-1485)catfs	p.H495fs	TMEM209_ENST00000336804.8_Frame_Shift_Ins_p.H452fs|TMEM209_ENST00000462753.1_Frame_Shift_Ins_p.H494fs|TMEM209_ENST00000473456.1_Frame_Shift_Ins_p.H453fs	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	495						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					CTGATAAATGCAAAAAACATTC	0.371													9	409	---	---	---	---					
TSGA13	114960	broad.mit.edu	37	7	130357652	130357652	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:130357652delT	ENST00000456951.1	-	7	1303	c.452delA	c.(451-453)agfs	p.K151fs	TSGA13_ENST00000356588.3_Frame_Shift_Del_p.K151fs			Q96PP4	TSG13_HUMAN	testis specific, 13	151										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					AGATCTTAACTTTTTTTTCTG	0.453													8	442	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131195812	131195813	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:131195812_131195813insC	ENST00000541194.1	-	2	743_744	c.486_487insG	c.(484-489)ggaaagfs	p.GK162fs	PODXL_ENST00000378555.3_Frame_Shift_Ins_p.GK160fs|PODXL_ENST00000322985.9_Frame_Shift_Ins_p.GK160fs|PODXL_ENST00000537928.1_Frame_Shift_Ins_p.GK160fs	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	160	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.K161E(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TGGCTGCTTTTCCCCCCAGAGT	0.525													10	905	---	---	---	---					
CHRM2	1129	broad.mit.edu	37	7	136700149	136700150	+	Frame_Shift_Ins	INS	-	-	T	rs150934226		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:136700149_136700150insT	ENST00000445907.2	+	3	1065_1066	c.537_538insT	c.(535-540)cattttfs	p.HF179fs	AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000453373.1_Frame_Shift_Ins_p.HF179fs|CHRM2_ENST00000320658.5_Frame_Shift_Ins_p.HF179fs|CHRM2_ENST00000402486.3_Frame_Shift_Ins_p.HF179fs|CHRM2_ENST00000397608.3_Frame_Shift_Ins_p.HF179fs|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000401861.1_Frame_Shift_Ins_p.HF179fs|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000439694.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	179					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GCTACATTCAGTTTTTTTCCAA	0.500													7	995	---	---	---	---					
TBXAS1	6916	broad.mit.edu	37	7	139719862	139719863	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:139719862_139719863insA	ENST00000263552.6	+	17	2106_2107	c.1568_1569insA	c.(1567-1569)caafs	p.Q523fs	TBXAS1_ENST00000448866.1_Frame_Shift_Ins_p.Q522fs|TBXAS1_ENST00000411653.1_3'UTR|TBXAS1_ENST00000414508.2_3'UTR|TBXAS1_ENST00000336425.5_Frame_Shift_Ins_p.Q522fs|TBXAS1_ENST00000416849.2_Frame_Shift_Ins_p.Q569fs|TBXAS1_ENST00000458722.1_Frame_Shift_Ins_p.Q568fs|TBXAS1_ENST00000425687.1_Frame_Shift_Ins_p.Q455fs|TBXAS1_ENST00000436047.2_Frame_Shift_Ins_p.Q523fs	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	522					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					GCCCTAGGTCCAAAAAATGGTG	0.441													8	423	---	---	---	---					
KDM7A	80853	broad.mit.edu	37	7	139790971	139790972	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:139790971_139790972insT	ENST00000397560.2	-	20	2845_2846	c.2748_2749insA	c.(2746-2751)aagaatfs	p.N917fs		NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		917					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GTTGCCATTCCTTTTTTTGGAC	0.431													10	1188	---	---	---	---					
KDM7A	80853	broad.mit.edu	37	7	139820279	139820280	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:139820279_139820280insC	ENST00000397560.2	-	8	1198_1199	c.1101_1102insG	c.(1099-1104)ggacttfs	p.L368fs	JHDM1D_ENST00000006967.5_Frame_Shift_Ins_p.L368fs	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		368	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TGCAGGAAGTTCCCCCCAAAAG	0.356													8	629	---	---	---	---					
RAB19	401409	broad.mit.edu	37	7	140110837	140110838	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:140110837_140110838insC	ENST00000275874.5	+	3	464_465	c.266_267insC	c.(265-267)accfs	p.T89fs	RAB19_ENST00000537763.1_Intron|RAB19_ENST00000356407.3_Intron			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	67					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					CAAAAGATGAGCCCCCAAATCT	0.495													7	1203	---	---	---	---					
ADCK2	90956	broad.mit.edu	37	7	140394593	140394594	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:140394593_140394594insC	ENST00000072869.4	+	8	2049_2050	c.1871_1872insC	c.(1870-1872)tccfs	p.S624fs	NDUFB2_ENST00000482954.1_Intron|ADCK2_ENST00000476491.1_Intron	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	624						integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GGCCCAGTGTGCCCCCCGTGAT	0.619													18	1439	---	---	---	---					
NDUFB2	4708	broad.mit.edu	37	7	140402707	140402708	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:140402707_140402708insC	ENST00000476279.1	+	2	214_215	c.140_141insC	c.(139-141)tccfs	p.S47fs	NDUFB2_ENST00000460088.1_5'UTR|NDUFB2_ENST00000464564.2_3'UTR|NDUFB2_ENST00000482954.1_5'UTR|NDUFB2_ENST00000472695.1_5'UTR|NDUFB2_ENST00000476470.1_5'UTR|NDUFB2_ENST00000247866.4_Frame_Shift_Ins_p.S47fs|NDUFB2_ENST00000475276.1_Frame_Shift_Ins_p.S20fs|NDUFB2_ENST00000461457.1_Intron|NDUFB2_ENST00000471136.1_Frame_Shift_Ins_p.S35fs|NDUFB2_ENST00000204307.5_Frame_Shift_Ins_p.S37fs|NDUFB2_ENST00000465506.1_Frame_Shift_Ins_p.S47fs			O95178	NDUB2_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa	47					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10	Melanoma(164;0.00956)				NADH(DB00157)	TATAGACAGTTCCCCCAGCTGA	0.535													9	2420	---	---	---	---					
BRAF	673	broad.mit.edu	37	7	140482926	140482927	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:140482926_140482927insG	ENST00000288602.6	-	10	1268_1269	c.1208_1209insC	c.(1207-1209)cgcfs	p.R403fs		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	403					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GTAATGAGGCAGGGGGGGTAGC	0.431		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				15	418	---	---	---	---					
BRAF	673	broad.mit.edu	37	7	140534611	140534612	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:140534611_140534612insG	ENST00000288602.6	-	3	361_362	c.301_302insC	c.(301-303)atcfs	p.I101fs		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	101					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CCCCAGAGATTCCAATAACTGT	0.401		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				38	881	---	---	---	---					
MGAM	8972	broad.mit.edu	37	7	141726958	141726959	+	Frame_Shift_Ins	INS	-	-	G	rs112166629		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:141726958_141726959insG	ENST00000475668.2	+	9	1080_1081	c.1026_1027insG	c.(1024-1029)atggggfs	p.MG342fs	MGAM_ENST00000549489.2_Frame_Shift_Ins_p.MG342fs			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	342	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACCGCACCATTGGGGGCATTCT	0.401													8	1257	---	---	---	---					
TRBV4-2	28616	broad.mit.edu	37	7	142045511	142045512	+	RNA	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:142045511_142045512insC	ENST00000390392.3	+	0	160																											TTTGTCCCTTTCCCCCCGCAGT	0.485													19	946	---	---	---	---					
TRPV5	56302	broad.mit.edu	37	7	142627244	142627245	+	Frame_Shift_Ins	INS	-	-	AACA			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:142627244_142627245insAACA	ENST00000265310.1	-	3	605_606	c.257_258insTGTT	c.(256-258)ggcfs	p.G86fs	TRPV5_ENST00000442623.1_Frame_Shift_Ins_p.G86fs	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	86					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)					CATAGAGGGCTGCTATGTGCAG	0.574													11	1171	---	---	---	---					
KEL	3792	broad.mit.edu	37	7	142639979	142639980	+	Frame_Shift_Ins	INS	-	-	C	rs140258059		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:142639979_142639980insC	ENST00000355265.2	-	17	2397_2398	c.1923_1924insG	c.(1921-1926)ggtagcfs	p.S642fs		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	642					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCGATGGCTAGCCCCCCAACGT	0.500													43	2736	---	---	---	---					
OR2A25	392138	broad.mit.edu	37	7	143771314	143771315	+	Translation_Start_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:143771314_143771315insG	ENST00000408898.2	+	0	40_41					NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25						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)					TACAGGGAAATGGGGGGAAATC	0.441													9	648	---	---	---	---					
OR2A14	135941	broad.mit.edu	37	7	143826300	143826300	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:143826300delC	ENST00000408899.2	+	1	150	c.95delC	c.(94-96)gcfs	p.A32fs		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CTTTTCTCTGCCTTCTATACA	0.507													51	787	---	---	---	---					
NOBOX	135935	broad.mit.edu	37	7	144096189	144096190	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:144096189_144096190insG	ENST00000467773.1	-	8	1321_1322	c.1322_1323insC	c.(1321-1323)cctfs	p.P441fs	NOBOX_ENST00000223140.5_Frame_Shift_Ins_p.P324fs|NOBOX_ENST00000483238.1_Frame_Shift_Ins_p.P409fs	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	441	Pro-rich.				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	p.P409fs*25(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GGCTGAAGAGTGGGGGGGTCAC	0.619													10	178	---	---	---	---					
EZH2	2146	broad.mit.edu	37	7	148525897	148525898	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:148525897_148525898insC	ENST00000320356.2	-	6	680_681	c.559_560insG	c.(559-561)tgafs	p.*187fs	EZH2_ENST00000478654.1_Frame_Shift_Ins_p.*178fs|EZH2_ENST00000460911.1_Frame_Shift_Ins_p.*187fs|EZH2_ENST00000350995.2_Frame_Shift_Ins_p.*148fs|EZH2_ENST00000483967.1_Frame_Shift_Ins_p.*178fs|EZH2_ENST00000536783.1_Frame_Shift_Ins_p.*78fs|EZH2_ENST00000541220.1_Frame_Shift_Ins_p.*178fs|EZH2_ENST00000476773.1_Frame_Shift_Ins_p.*178fs	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	187	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TCcatcatcatcatcgtcatca	0.386			Mis		DLBCL								7	805	---	---	---	---					
ZNF777	27153	broad.mit.edu	37	7	149152291	149152292	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:149152291_149152292insG	ENST00000247930.4	-	2	1145_1146	c.822_823insC	c.(820-825)ccgcagfs	p.Q275fs		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCATTGCTGCCGGGGGGCAGCC	0.530													16	986	---	---	---	---					
ZNF467	168544	broad.mit.edu	37	7	149467612	149467613	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:149467612_149467613insG	ENST00000302017.3	-	3	480_481	c.67_68insC	c.(67-69)aagfs	p.K23fs	ZNF467_ENST00000484747.1_Frame_Shift_Ins_p.K23fs	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGCTCACTTTGGGGGGCCATC	0.554													7	185	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149474082	149474083	+	RNA	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:149474082_149474083insG	ENST00000378016.2	+	0	292_293							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TTGCCCAGGCTGGGGGGGCGCC	0.624													7	135	---	---	---	---					
KCNH2	3757	broad.mit.edu	37	7	150647510	150647511	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:150647510_150647511insG	ENST00000392968.2	-	7	2978		c.e7-2		KCNH2_ENST00000430723.3_Splice_Site|KCNH2_ENST00000330883.4_Splice_Site|KCNH2_ENST00000262186.5_Splice_Site			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2						blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CTTCAGCACCTGGGGGCAGGGT	0.629													8	778	---	---	---	---					
KCNH2	3757	broad.mit.edu	37	7	150656678	150656679	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:150656678_150656679insG	ENST00000392968.2	-	1	1285_1286	c.165_166insC	c.(163-168)ccccagfs	p.Q56fs	KCNH2_ENST00000430723.3_Frame_Shift_Ins_p.Q152fs|KCNH2_ENST00000262186.5_Frame_Shift_Ins_p.Q152fs			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	152	PAS.		R -> Q (in LQT2).		blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	p.T152fs*180(1)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	AGCCAGCTGGTGGGGGGGCCCC	0.589													33	702	---	---	---	---					
NOS3	4846	broad.mit.edu	37	7	150698397	150698398	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:150698397_150698398insG	ENST00000297494.3	+	11	1669_1670	c.1312_1313insG	c.(1312-1314)gggfs	p.G438fs	NOS3_ENST00000467517.1_Frame_Shift_Ins_p.G438fs|NOS3_ENST00000484524.1_Frame_Shift_Ins_p.G438fs|NOS3_ENST00000461406.1_Frame_Shift_Ins_p.G232fs	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	438	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GCAGAAGGCCAGGGGGGGCTGC	0.614													15	363	---	---	---	---					
ABCB8	11194	broad.mit.edu	37	7	150730885	150730887	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:150730885_150730887delGAG	ENST00000358849.4	+	2	382_384	c.289_291delGAG	c.(289-291)del	p.E97del	ABCB8_ENST00000498578.1_In_Frame_Del_p.E97del|ABCB8_ENST00000297504.6_In_Frame_Del_p.E114del|ABCB8_ENST00000477719.1_In_Frame_Del_p.E97del|ABCB8_ENST00000542328.1_Intron|ABCB8_ENST00000477092.1_In_Frame_Del_p.E97del|ABCB8_ENST00000356058.4_In_Frame_Del_p.E134del|ABCB8_ENST00000493338.1_3'UTR	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	114						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCCCTGTGTGAGGCAGAAGAGG	0.631													10	448	---	---	---	---					
AGAP3	116988	broad.mit.edu	37	7	150814456	150814457	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:150814456_150814457insG	ENST00000397238.2	+	4	478		c.e4-1		AGAP3_ENST00000473312.1_Splice_Site|AGAP3_ENST00000463381.1_Splice_Site|AGAP3_ENST00000479901.1_Splice_Site|AGAP3_ENST00000335367.3_Splice_Site|AGAP3_ENST00000476375.1_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													23	2257	---	---	---	---					
ASB10	136371	broad.mit.edu	37	7	150878414	150878415	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:150878414_150878415insC	ENST00000422024.1	-	3	975_976	c.850_851insG	c.(850-852)atgfs	p.M284fs	ASB10_ENST00000377867.3_Frame_Shift_Ins_p.M224fs|ASB10_ENST00000275838.1_Frame_Shift_Ins_p.M239fs|ASB10_ENST00000434669.1_Frame_Shift_Ins_p.M284fs|ASB10_ENST00000420175.2_Frame_Shift_Ins_p.M239fs	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	239					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATCAGGACATGCCCCCCGTCTT	0.653													15	622	---	---	---	---					
CHPF2	54480	broad.mit.edu	37	7	150932282	150932283	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:150932282_150932283insG	ENST00000035307.2	+	2	1925_1926	c.412_413insG	c.(412-414)gggfs	p.G138fs	CHPF2_ENST00000495645.1_Frame_Shift_Ins_p.G130fs	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	138						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CACTGGGCAGCGGGGGGCCCGG	0.634													9	657	---	---	---	---					
MYOM2	9172	broad.mit.edu	37	8	2088682	2088683	+	Frame_Shift_Ins	INS	-	-	G	rs34620424	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:2088682_2088683insG	ENST00000262113.4	+	33	3978_3979	c.3837_3838insG	c.(3835-3840)atggggfs	p.MG1279fs	MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.MG704fs|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1279					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATATGAGAATCGGGGGGAGTGA	0.446													12	886	---	---	---	---					
XKR6	286046	broad.mit.edu	37	8	10755815	10755816	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:10755815_10755816insG	ENST00000416569.2	-	3	1598_1599	c.1572_1573insC	c.(1570-1575)ccatgtfs	p.C525fs	XKR6_ENST00000304437.2_Frame_Shift_Ins_p.C246fs	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	525						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GGCTCAACATCGGGGGGCAAAG	0.609													8	264	---	---	---	---					
NEIL2	252969	broad.mit.edu	37	8	11637431	11637432	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:11637431_11637432insG	ENST00000284503.6	+	3	1062_1063	c.463_464insG	c.(463-465)gggfs	p.G155fs	NEIL2_ENST00000455213.2_Frame_Shift_Ins_p.G155fs|NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000403422.3_Frame_Shift_Ins_p.G94fs|NEIL2_ENST00000436750.3_Frame_Shift_Ins_p.G155fs	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	155					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		AGCCAACAAGAGGGGGGACTGG	0.574								Base excision repair (BER), DNA glycosylases					11	652	---	---	---	---					
PSD3	23362	broad.mit.edu	37	8	18413784	18413785	+	Frame_Shift_Ins	INS	-	-	G	rs28651847	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:18413784_18413785insG	ENST00000440756.2	-	15	2970_2971	c.2868_2869insC	c.(2866-2871)ccacaafs	p.Q957fs	PSD3_ENST00000286485.8_Frame_Shift_Ins_p.Q421fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.Q284fs|PSD3_ENST00000327040.8_Frame_Shift_Ins_p.Q955fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.Q890fs			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	956					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.D421Y(1)|p.D957Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTCTTGTCGGGGGGATATG	0.480													11	728	---	---	---	---					
PSD3	23362	broad.mit.edu	37	8	18725321	18725322	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:18725321_18725322insC	ENST00000440756.2	-	4	1598_1599	c.1496_1497insG	c.(1495-1497)gggfs	p.G499fs	PSD3_ENST00000327040.8_Frame_Shift_Ins_p.G499fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.G434fs			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	499					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CCTGATGTCCTCCCCCTGATGT	0.495													7	1477	---	---	---	---					
BMP1	649	broad.mit.edu	37	8	22054259	22054260	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:22054259_22054260insC	ENST00000306385.5	+	14	2502_2503	c.1832_1833insC	c.(1831-1833)tccfs	p.S611fs	BMP1_ENST00000306349.8_Frame_Shift_Ins_p.S611fs|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Frame_Shift_Ins_p.S611fs	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	611	CUB 3.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCCAAGGAGTACCCCCCCAACA	0.604													14	79	---	---	---	---					
DPYSL2	1808	broad.mit.edu	37	8	26513183	26513184	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:26513183_26513184insC	ENST00000311151.5	+	14	2092_2093	c.1680_1681insC	c.(1678-1683)gcccccfs	p.AP560fs	DPYSL2_ENST00000523027.1_Frame_Shift_Ins_p.AP524fs|DPYSL2_ENST00000521913.1_Frame_Shift_Ins_p.AP524fs	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	560					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GTATCGTGGCGCCCCCCGGTGG	0.644											OREG0018659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	350	---	---	---	---					
INTS9	55756	broad.mit.edu	37	8	28633353	28633354	+	Frame_Shift_Ins	INS	-	-	G	rs148560235		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:28633353_28633354insG	ENST00000416984.2	-	13	1781_1782	c.1422_1423insC	c.(1420-1425)ccccatfs	p.H475fs	INTS9_ENST00000521022.1_Frame_Shift_Ins_p.H496fs|INTS9_ENST00000521777.1_Frame_Shift_Ins_p.H472fs|INTS9_ENST00000397363.4_Frame_Shift_Ins_p.H390fs	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	496					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		TAGGACATGGCGGGGGGCTGGC	0.619													7	721	---	---	---	---					
GOT1L1	137362	broad.mit.edu	37	8	37793280	37793281	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													14	274	---	---	---	---					
IKBKB	3551	broad.mit.edu	37	8	42178341	42178342	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:42178341_42178342insG	ENST00000520810.1	+	16	1853_1854	c.1667_1668insG	c.(1666-1668)cggfs	p.R556fs	IKBKB_ENST00000416505.2_Frame_Shift_Ins_p.R497fs|IKBKB_ENST00000379708.3_Frame_Shift_Ins_p.R333fs|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Frame_Shift_Ins_p.R554fs	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	556					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GGCCGGAAGCAGGGGGGAACGC	0.594													10	294	---	---	---	---					
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)cccfs	p.P1552fs	ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs	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	161	---	---	---	---					
KCNB2	9312	broad.mit.edu	37	8	73480091	73480092	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:73480091_73480092insG	ENST00000523207.1	+	2	710_711	c.122_123insG	c.(121-123)gggfs	p.G41fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	41					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)			AAGATCAATGTGGGGGGCCTCA	0.564													7	699	---	---	---	---					
EXT1	2131	broad.mit.edu	37	8	118832019	118832020	+	Frame_Shift_Ins	INS	-	-	G	rs17439693	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:118832019_118832020insG	ENST00000378204.2	-	6	2237_2238	c.1431_1432insC	c.(1429-1434)ccccaafs	p.Q478fs		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	478					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GTGAATTTGGAGGGGGGCTTTA	0.520			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				13	428	---	---	---	---					
MTBP	27085	broad.mit.edu	37	8	121457738	121457739	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:121457738_121457739insG	ENST00000305949.1	+	1	73_74	c.28_29insG	c.(28-30)gggfs	p.G10fs		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	10					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			GCTGGTGATCTGGGGGGAAGGA	0.589													7	233	---	---	---	---					
KLHL38	340359	broad.mit.edu	37	8	124664150	124664151	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:124664150_124664151insC	ENST00000325995.7	-	1	1039_1040	c.1016_1017insG	c.(1015-1017)gatfs	p.D339fs	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	339										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TGACAGCCATGCCCCCCAGCAC	0.589													17	817	---	---	---	---					
MIR1208	100302281	broad.mit.edu	37	8	129162432	129162433	+	RNA	INS	-	-	G	rs2648841	by1000genomes	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:129162432_129162433insG	ENST00000408334.1	+	0	71_72					NR_031613.1																						ACCACTGTGGTGGGGGGGAGTG	0.564													16	224	---	---	---	---					
ASAP1	50807	broad.mit.edu	37	8	131073043	131073044	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:131073043_131073044insG	ENST00000357668.1	-	27	3000_3001	c.2973_2974insC	c.(2971-2976)ccaaccfs	p.T992fs	ASAP1_ENST00000518721.1_Frame_Shift_Ins_p.T992fs			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	992	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						AGCTGTGGTTTGGGGGGCAGGT	0.574													11	440	---	---	---	---					
ASAP1	50807	broad.mit.edu	37	8	131073124	131073125	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													8	430	---	---	---	---					
SLA	6503	broad.mit.edu	37	8	134063099	134063100	+	Frame_Shift_Ins	INS	-	-	G	rs143198289		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:134063099_134063100insG	ENST00000338087.5	-	4	941_942	c.122_123insC	c.(121-123)catfs	p.H41fs	TG_ENST00000377869.1_Intron|SLA_ENST00000517648.1_Frame_Shift_Ins_p.H58fs|TG_ENST00000519543.1_Intron|TG_ENST00000220616.4_Intron|SLA_ENST00000518565.1_5'UTR|SLA_ENST00000524345.1_5'UTR|TG_ENST00000542445.1_Intron|SLA_ENST00000427060.2_Frame_Shift_Ins_p.H81fs|SLA_ENST00000395352.3_Frame_Shift_Ins_p.H58fs	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	41	SH3.					endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			GGCGGAATATCGGGGGGCTGAT	0.525													8	443	---	---	---	---					
FREM1	158326	broad.mit.edu	37	9	14823286	14823287	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:14823286_14823287insG	ENST00000380881.4	-	14	3026_3027	c.2211_2212insC	c.(2209-2214)cctgcafs	p.A738fs	FREM1_ENST00000380880.3_Frame_Shift_Ins_p.A737fs|FREM1_ENST00000422223.2_Frame_Shift_Ins_p.A737fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	737					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGTCTTGCATGGGGGGCATGT	0.441													23	1809	---	---	---	---					
FREM1	158326	broad.mit.edu	37	9	14842653	14842654	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:14842653_14842654insC	ENST00000380881.4	-	10	2216_2217	c.1401_1402insG	c.(1399-1404)ggaaggfs	p.R468fs	FREM1_ENST00000380880.3_Frame_Shift_Ins_p.R467fs|FREM1_ENST00000422223.2_Frame_Shift_Ins_p.R467fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	467					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGAAACCCTTTCCCCCCTGAGG	0.525													7	175	---	---	---	---					
FREM1	158326	broad.mit.edu	37	9	14848680	14848681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:14848680_14848681insG	ENST00000380881.4	-	8	2061_2062	c.1246_1247insC	c.(1246-1248)tgtfs	p.C416fs	FREM1_ENST00000380880.3_Frame_Shift_Ins_p.C415fs|FREM1_ENST00000422223.2_Frame_Shift_Ins_p.C415fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	415					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCAGGATACACGGGGGGCATTT	0.426													11	225	---	---	---	---					
ADAMTSL1	92949	broad.mit.edu	37	9	18753472	18753473	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:18753472_18753473insC	ENST00000380548.4	+	16	2522_2523	c.2183_2184insC	c.(2182-2184)tccfs	p.S728fs		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	728	TSP type-1 6.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CGCTTTAATTGCCCCCCAGCCT	0.515													11	372	---	---	---	---					
TEK	7010	broad.mit.edu	37	9	27204925	27204926	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:27204925_27204926insG	ENST00000380036.4	+	14	2668_2669	c.2226_2227insG	c.(2224-2229)ggggggfs	p.GG742fs	TEK_ENST00000519097.1_Frame_Shift_Ins_p.GG595fs|TEK_ENST00000406359.4_Frame_Shift_Ins_p.GG699fs	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	742					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CGGACCTCGGAGGGGGGAAGAT	0.510													13	691	---	---	---	---					
C9orf131	138724	broad.mit.edu	37	9	35043649	35043650	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													8	1527	---	---	---	---					
PIGO	84720	broad.mit.edu	37	9	35091522	35091523	+	Frame_Shift_Ins	INS	-	-	G	rs144233446		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:35091522_35091523insG	ENST00000378617.3	-	7	2755_2756	c.2361_2362insC	c.(2359-2364)cccttcfs	p.F788fs	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.F788fs	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	788					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.T788fs*5(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTGAGAAGTGGGGGGGCCTG	0.604													15	278	---	---	---	---					
PIGO	84720	broad.mit.edu	37	9	35092522	35092523	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:35092522_35092523insC	ENST00000378617.3	-	7	1755_1756	c.1361_1362insG	c.(1360-1362)gacfs	p.D454fs	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.D454fs	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	454					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGAGAGCAGTACCCCCCGCCAT	0.594													14	762	---	---	---	---					
RECK	8434	broad.mit.edu	37	9	36112460	36112461	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:36112460_36112461insA	ENST00000377966.3	+	16	2613_2614	c.2047_2048insA	c.(2047-2049)aaafs	p.K683fs		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	683						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TAATCCCTGCCAAAAAAACCAA	0.416													13	714	---	---	---	---					
ZCCHC7	84186	broad.mit.edu	37	9	37305598	37305599	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:37305598_37305599insC	ENST00000336755.5	+	5	944_945	c.838_839insC	c.(838-840)cccfs	p.P280fs	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_5'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	280							nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		TTCCTGTCCAGCCCCCCTTTGC	0.470													8	486	---	---	---	---					
FRMPD1	22844	broad.mit.edu	37	9	37746119	37746120	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:37746119_37746120insC	ENST00000539465.1	+	16	4683_4684	c.4090_4091insC	c.(4090-4092)cccfs	p.P1364fs	FRMPD1_ENST00000377765.3_Frame_Shift_Ins_p.P1364fs|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1364						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		ACACCCCATGGCCCCCCTCACC	0.649													10	657	---	---	---	---					
TMC1	117531	broad.mit.edu	37	9	75263573	75263574	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:75263573_75263574insA	ENST00000297784.5	+	5	549_550	c.9_10insA	c.(7-12)ccaaaafs	p.PK3fs	TMC1_ENST00000396237.3_Frame_Shift_Ins_p.PK3fs|TMC1_ENST00000340019.3_Frame_Shift_Ins_p.PK3fs	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	3					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GGATGTCACCCAAAAAAGGTAT	0.401													12	1751	---	---	---	---					
PCSK5	5125	broad.mit.edu	37	9	78686773	78686774	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:78686773_78686774insC	ENST00000545128.1	+	7	1391_1392	c.853_854insC	c.(853-855)cccfs	p.P285fs	PCSK5_ENST00000376767.3_Frame_Shift_Ins_p.P285fs|PCSK5_ENST00000376752.4_Frame_Shift_Ins_p.P285fs	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	285	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGACGGACCAGCCCCCCTCACC	0.515													24	1807	---	---	---	---					
SECISBP2	79048	broad.mit.edu	37	9	91956314	91956315	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:91956314_91956315insG	ENST00000375807.3	+	10	1426_1427	c.1355_1356insG	c.(1354-1356)tggfs	p.W452fs	SECISBP2_ENST00000534113.2_Frame_Shift_Ins_p.W384fs|SECISBP2_ENST00000339901.4_Frame_Shift_Ins_p.W379fs	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	452					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CAGTTGGACTTGGGGGGCATGC	0.421													7	161	---	---	---	---					
C9orf129	445577	broad.mit.edu	37	9	96080811	96080812	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:96080811_96080812insC	ENST00000375419.1	-	5	822_823	c.459_460insG	c.(457-462)ggatgtfs	p.C154fs	WNK2_ENST00000349097.3_Intron|WNK2_ENST00000395475.2_Intron|WNK2_ENST00000471076.1_Intron|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000395477.2_Intron	NM_001098808.1	NP_001092278.1	Q5T035	CI129_HUMAN	chromosome 9 open reading frame 129	154										endometrium(2)|large_intestine(1)|lung(1)|ovary(2)	6						GAGCAGACATGCCCCCCATGCC	0.599													17	1622	---	---	---	---					
MRPL50	54534	broad.mit.edu	37	9	104152774	104152775	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:104152774_104152775insG	ENST00000374865.4	-	2	471_472	c.450_451insC	c.(448-453)ccatttfs	p.F151fs	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	151						mitochondrion|ribosome		p.P150P(1)		large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATTTTCAAATTGGGGGGCAGAT	0.401													11	266	---	---	---	---					
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													31	436	---	---	---	---					
C9orf152	401546	broad.mit.edu	37	9	112963553	112963554	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:112963553_112963554insG	ENST00000400613.4	-	2	1003_1004	c.394_395insC	c.(394-396)ggafs	p.G132fs	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	132										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ACTGGTGTCCTGGGGGGAGGTT	0.564													17	1132	---	---	---	---					
AKNA	80709	broad.mit.edu	37	9	117121990	117121991	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:117121990_117121991insC	ENST00000307564.4	-	11	2536_2537	c.2375_2376insG	c.(2374-2376)gggfs	p.G792fs	AKNA_ENST00000374088.3_Frame_Shift_Ins_p.G792fs|AKNA_ENST00000312033.3_Frame_Shift_Ins_p.G792fs|AKNA_ENST00000223791.3_Frame_Shift_Ins_p.G252fs|AKNA_ENST00000374075.5_Frame_Shift_Ins_p.G711fs	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	792	PEST.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGGAGTCACCTCccccctcttc	0.584													9	324	---	---	---	---					
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													22	770	---	---	---	---					
CNTRL	11064	broad.mit.edu	37	9	123912689	123912690	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:123912689_123912690insC	ENST00000373855.1	+	25	4151_4152	c.3891_3892insC	c.(3889-3894)ccccccfs	p.PP1297fs	CNTRL_ENST00000238341.5_Frame_Shift_Ins_p.PP1297fs|CNTRL_ENST00000373847.1_Frame_Shift_Ins_p.PP745fs|CNTRL_ENST00000373850.1_Frame_Shift_Ins_p.PP745fs			Q7Z7A1	CNTRL_HUMAN	centriolin	1297	Pro-rich.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ATGGGCCTCCACCCCCCAACTT	0.550													8	181	---	---	---	---					
RABEPK	10244	broad.mit.edu	37	9	127982851	127982852	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:127982851_127982852insC	ENST00000373538.3	+	5	708_709	c.398_399insC	c.(397-399)accfs	p.T133fs	RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000373544.1_3'UTR|RABEPK_ENST00000394125.4_Frame_Shift_Ins_p.T133fs|RABEPK_ENST00000259460.8_Frame_Shift_Ins_p.T82fs	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	133					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						GAAGTGACCAGCCCCCCACCAT	0.574													8	734	---	---	---	---					
ST6GALNAC6	30815	broad.mit.edu	37	9	130649773	130649774	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:130649773_130649774insG	ENST00000373146.1	-	6	980_981	c.801_802insC	c.(799-804)ccactafs	p.L268fs	ST6GALNAC6_ENST00000373141.1_Frame_Shift_Ins_p.L234fs|ST6GALNAC6_ENST00000542456.1_Frame_Shift_Ins_p.L68fs|ST6GALNAC6_ENST00000373144.3_Frame_Shift_Ins_p.L234fs|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373142.1_Frame_Shift_Ins_p.L268fs|ST6GALNAC6_ENST00000291839.5_Frame_Shift_Ins_p.L268fs			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	268					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTGCAGTAGTTGGGGGGGACCA	0.604													13	146	---	---	---	---					
CERCAM	51148	broad.mit.edu	37	9	131186543	131186544	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:131186543_131186544insC	ENST00000372842.1	+	5	3463_3464	c.319_320insC	c.(319-321)cccfs	p.P107fs	CERCAM_ENST00000372838.4_Frame_Shift_Ins_p.P185fs			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	185					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GTGTGGGATCACCCCCCAGGTG	0.634													10	550	---	---	---	---					
NUP188	23511	broad.mit.edu	37	9	131750356	131750357	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:131750356_131750357delGC	ENST00000372577.2	+	24	2445_2446	c.2424_2425delGC	c.(2422-2427)catgfs	p.QL808fs		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	808					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						GGCAGGGCCAGCTGCTGATCAA	0.505													33	846	---	---	---	---					
CRAT	1384	broad.mit.edu	37	9	131864813	131864814	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:131864813_131864814insC	ENST00000318080.2	-	5	789_790	c.495_496insG	c.(493-498)ggagccfs	p.A166fs	CRAT_ENST00000464290.1_5'UTR	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	166					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CACAGTGGCTTCCCCCCCAGGT	0.609													32	796	---	---	---	---					
LAMC3	10319	broad.mit.edu	37	9	133936593	133936594	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:133936593_133936594insC	ENST00000361069.4	+	13	2463_2464	c.2330_2331insC	c.(2329-2331)tccfs	p.S777fs	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	777	Laminin EGF-like 7.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TGTACCCACTGCCCCCCGGGCC	0.698													8	116	---	---	---	---					
SETX	23064	broad.mit.edu	37	9	135145037	135145037	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:135145037delT	ENST00000372169.2	-	25	7434	c.7252delA	c.(7252-7254)gcfs	p.S2418fs	SETX_ENST00000224140.5_Frame_Shift_Del_p.S2418fs|SETX_ENST00000393220.1_Frame_Shift_Del_p.S2385fs|SETX_ENST00000477049.1_5'UTR			Q7Z333	SETX_HUMAN	senataxin	2418					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATGAAGAGGCTGTACTTGGCT	0.413													7	1437	---	---	---	---					
SURF2	6835	broad.mit.edu	37	9	136226961	136226962	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:136226961_136226962insG	ENST00000371964.4	+	4	514_515	c.473_474insG	c.(472-474)gggfs	p.G158fs	SURF2_ENST00000495524.1_3'UTR	NM_017503.3	NP_059973.3	Q15527	SURF2_HUMAN	surfeit 2	158							protein binding			breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		TCCAGTGATGAGGGGGGAGCTG	0.639													7	378	---	---	---	---					
TAF3	83860	broad.mit.edu	37	10	8006928	8006929	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:8006928_8006929insC	ENST00000344293.5	+	3	1661_1662	c.1455_1456insC	c.(1453-1458)atccccfs	p.IP485fs		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	485					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTTCAAATATGCCCCCCAACTT	0.490													12	534	---	---	---	---					
KIAA1217	56243	broad.mit.edu	37	10	24832466	24832467	+	Frame_Shift_Ins	INS	-	-	C	rs61734877		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:24832466_24832467insC	ENST00000376451.2	+	14	3576_3577	c.3316_3317insC	c.(3316-3318)cccfs	p.P1106fs	KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376454.3_Frame_Shift_Ins_p.P1423fs|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000307544.6_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1423					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						AAAAGAGATGACCCCCCGACAA	0.495													7	371	---	---	---	---					
YME1L1	10730	broad.mit.edu	37	10	27437919	27437920	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:27437919_27437920insT	ENST00000326799.3	-	2	231_232	c.83_84insA	c.(82-84)aacfs	p.N28fs	YME1L1_ENST00000477432.1_Frame_Shift_Ins_p.N28fs|YME1L1_ENST00000376016.3_Frame_Shift_Ins_p.N28fs|YME1L1_ENST00000375972.3_Frame_Shift_Ins_p.N28fs	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	28					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						AAACAGAAGTGTTTTTTGGTGT	0.381													11	1461	---	---	---	---					
KIAA1462	57608	broad.mit.edu	37	10	30315988	30315989	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:30315988_30315989insC	ENST00000375377.1	-	3	3189_3190	c.3088_3089insG	c.(3088-3090)aggfs	p.R1030fs		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1030										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGGGAGCCCTGCCCCCCTCTCT	0.584													8	318	---	---	---	---					
LYZL2	119180	broad.mit.edu	37	10	30900901	30900902	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:30900901_30900902insT	ENST00000375318.2	-	5	623_624	c.567_568insA	c.(565-570)aaactgfs	p.L190fs		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	144					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				ACCTCACAGTCTTTTTTCCAGT	0.520													7	1788	---	---	---	---					
ITGB1	3688	broad.mit.edu	37	10	33208968	33208969	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:33208968_33208969insT	ENST00000396033.2	-	11	1448_1449	c.1313_1314insA	c.(1312-1314)agafs	p.R438fs	ITGB1_ENST00000302278.3_Frame_Shift_Ins_p.R438fs|ITGB1_ENST00000423113.1_Frame_Shift_Ins_p.R438fs|ITGB1_ENST00000374956.4_Frame_Shift_Ins_p.R438fs	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	438					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TGTCAGAATCCTTTTTTGGACA	0.342													7	279	---	---	---	---					
ZNF33B	7582	broad.mit.edu	37	10	43088648	43088649	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:43088648_43088649delGA	ENST00000359467.3	-	5	1863_1864	c.1749_1750delTC	c.(1747-1752)tgatfs	p.CH583fs	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	583						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CCACATTCATGACATTCATAGG	0.366													16	422	---	---	---	---					
NPY4R	5540	broad.mit.edu	37	10	47087813	47087814	+	Frame_Shift_Ins	INS	-	-	C	rs137962741		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:47087813_47087814insC	ENST00000374312.1	+	3	1449_1450	c.1030_1031insC	c.(1030-1032)cccfs	p.P344fs	NPY4R_ENST00000395716.1_Frame_Shift_Ins_p.P344fs	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		CCAGCAGAGCGCCCCCCTGGAG	0.559													7	662	---	---	---	---					
NCOA4	8031	broad.mit.edu	37	10	51586311	51586312	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:51586311_51586312insC	ENST00000452682.1	+	10	2039_2040	c.1787_1788insC	c.(1786-1788)tccfs	p.S596fs	NCOA4_ENST00000430396.2_Frame_Shift_Ins_p.S480fs|NCOA4_ENST00000344348.6_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000414907.2_Frame_Shift_Ins_p.S414fs|NCOA4_ENST00000438493.1_Frame_Shift_Ins_p.S596fs|NCOA4_ENST00000374087.4_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000374082.1_Frame_Shift_Ins_p.P535fs|NCOA4_ENST00000443446.1_Frame_Shift_Ins_p.S580fs	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	580					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GAACATAACTTCCCCCCAGACC	0.416			T	RET	papillary thyroid								8	390	---	---	---	---					
HKDC1	80201	broad.mit.edu	37	10	71018586	71018587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:71018586_71018587insG	ENST00000354624.5	+	15	2220_2221	c.2087_2088insG	c.(2086-2088)gggfs	p.G696fs	HKDC1_ENST00000395086.2_Frame_Shift_Ins_p.G696fs	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	696					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GAGATGGTGGAGGGGGGTGAAG	0.500													9	556	---	---	---	---					
NODAL	4838	broad.mit.edu	37	10	72192769	72192769	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:72192769delT	ENST00000287139.3	-	3	966	c.967delA	c.(967-969)tgfs	p.M323fs		NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	323					growth	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						ACATACAGCATGCTCAGCGGC	0.522													9	1219	---	---	---	---					
SYNPO2L	79933	broad.mit.edu	37	10	75408422	75408423	+	Frame_Shift_Ins	INS	-	-	G	rs79048905	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:75408422_75408423insG	ENST00000394810.2	-	4	1136_1137	c.987_988insC	c.(985-990)cccgagfs	p.E330fs	SYNPO2L_ENST00000372872.4_Frame_Shift_Ins_p.E330fs|SYNPO2L_ENST00000372873.4_Frame_Shift_Ins_p.E106fs	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	330						cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GACTCACTCGTGGGGGGAACGC	0.594													11	481	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron	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													62	1356	---	---	---	---					
KAT6B	23522	broad.mit.edu	37	10	76790222	76790223	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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_ENST00000372714.1_Frame_Shift_Ins_p.PP1588fs|KAT6B_ENST00000372725.1_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													20	530	---	---	---	---					
KCNMA1	3778	broad.mit.edu	37	10	78943215	78943216	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:78943215_78943216insG	ENST00000286627.5	-	5	1723_1724	c.771_772insC	c.(769-774)cctgttfs	p.V258fs	KCNMA1_ENST00000372443.1_Frame_Shift_Ins_p.V258fs|KCNMA1_ENST00000404771.3_Frame_Shift_Ins_p.V258fs|KCNMA1_ENST00000406533.3_Frame_Shift_Ins_p.V258fs|KCNMA1_ENST00000404857.1_Frame_Shift_Ins_p.V258fs|KCNMA1_ENST00000372440.1_Frame_Shift_Ins_p.V258fs|KCNMA1_ENST00000354353.5_Frame_Shift_Ins_p.V258fs|KCNMA1_ENST00000286628.8_Frame_Shift_Ins_p.V258fs	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	258					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GACACAAACACGGGGGGCACCG	0.455													8	181	---	---	---	---					
ZMIZ1	57178	broad.mit.edu	37	10	81050758	81050758	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:81050758delC	ENST00000334512.5	+	10	1155	c.583delC	c.(583-585)cafs	p.P195fs	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	195					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCCCATGAATCCAGGCGGCAA	0.607													62	360	---	---	---	---					
IFIT3	3437	broad.mit.edu	37	10	91099579	91099580	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:91099579_91099580insA	ENST00000371818.4	+	2	1347_1348	c.1167_1168insA	c.(1165-1170)agaaaafs	p.RK389fs	LIPA_ENST00000487618.1_Intron|IFIT3_ENST00000371811.4_Frame_Shift_Ins_p.RK389fs|LIPA_ENST00000371837.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	389					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						TGTCCATAAGCAAAAAATCAAC	0.391													10	570	---	---	---	---					
LGI1	9211	broad.mit.edu	37	10	95552601	95552602	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													8	421	---	---	---	---					
DNTT	1791	broad.mit.edu	37	10	98079053	98079054	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:98079053_98079054insC	ENST00000419175.1	+	3	583_584	c.413_414insC	c.(412-414)gccfs	p.A138fs	DNTT_ENST00000371174.2_Frame_Shift_Ins_p.A138fs	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	138					DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		ACCAACCCAGGCCCCCCGAAGA	0.396													9	533	---	---	---	---					
TLL2	7093	broad.mit.edu	37	10	98164994	98164995	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:98164994_98164995insG	ENST00000357947.3	-	10	1486_1487	c.1261_1262insC	c.(1261-1263)tttfs	p.F421fs	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	421	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CTTACCCAAAAGGGGGGCTTTT	0.480													9	811	---	---	---	---					
PKD2L1	9033	broad.mit.edu	37	10	102057330	102057331	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:102057330_102057331insC	ENST00000318222.3	-	5	1146_1147	c.764_765insG	c.(763-765)gttfs	p.V255fs	PKD2L1_ENST00000353274.3_Frame_Shift_Ins_p.V255fs|PKD2L1_ENST00000338519.3_Intron	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	255					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	p.G255fs*64(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AGTGGGAGAAGCCCCCCAACTC	0.584													9	303	---	---	---	---					
SEC31B	25956	broad.mit.edu	37	10	102265153	102265154	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:102265153_102265154insG	ENST00000370345.3	-	10	1240_1241	c.1143_1144insC	c.(1141-1146)ccaatgfs	p.M382fs	SEC31B_ENST00000451524.1_Frame_Shift_Ins_p.M382fs	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	382					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CTAATCCATTTGGGGGGTTTTT	0.490													13	603	---	---	---	---					
LZTS2	84445	broad.mit.edu	37	10	102762412	102762413	+	Frame_Shift_Ins	INS	-	-	G	rs148075274	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:102762412_102762413insG	ENST00000370220.1	+	1	3180_3181	c.117_118insG	c.(115-120)ccggggfs	p.PG39fs	LZTS2_ENST00000370223.3_Frame_Shift_Ins_p.PG39fs			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	39	Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGCCCTGTCCCGGGGGGCCAGC	0.678													7	110	---	---	---	---					
PSD	5662	broad.mit.edu	37	10	104176573	104176574	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:104176573_104176574insG	ENST00000020673.5	-	2	748_749	c.222_223insC	c.(220-225)cccaccfs	p.T75fs	PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Frame_Shift_Ins_p.T75fs	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	75	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	p.S75fs*127(1)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		ACACGGGGTGAGGGGGGGCCAC	0.668													8	243	---	---	---	---					
SH3PXD2A	9644	broad.mit.edu	37	10	105484097	105484098	+	Frame_Shift_Ins	INS	-	-	G	rs149867987		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:105484097_105484098insG	ENST00000369774.4	-	5	604_605	c.328_329insC	c.(328-330)catfs	p.H110fs	SH3PXD2A_ENST00000355946.2_Frame_Shift_Ins_p.H110fs			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	110	PX.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CTGTGAGATGTGGGGGGGCAGC	0.535													17	159	---	---	---	---					
PLEKHS1	79949	broad.mit.edu	37	10	115536900	115536901	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:115536900_115536901insC	ENST00000354462.3	+	5	457_458	c.299_300insC	c.(298-300)gccfs	p.A100fs	PLEKHS1_ENST00000369310.3_Frame_Shift_Ins_p.A350fs|PLEKHS1_ENST00000361048.1_Intron|PLEKHS1_ENST00000369312.4_Frame_Shift_Ins_p.A268fs|PLEKHS1_ENST00000369309.1_Frame_Shift_Ins_p.A184fs					pleckstrin homology domain containing, family S member 1																		CAGTGGGAAGGCCCCCCACGTT	0.559													8	301	---	---	---	---					
TACC2	10579	broad.mit.edu	37	10	123844355	123844356	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:123844355_123844356insC	ENST00000369005.1	+	4	2680_2681	c.2340_2341insC	c.(2338-2343)caccccfs	p.HP780fs	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Frame_Shift_Ins_p.HP780fs|TACC2_ENST00000515603.1_Frame_Shift_Ins_p.HP780fs|TACC2_ENST00000515273.1_Frame_Shift_Ins_p.HP780fs|TACC2_ENST00000453444.2_Frame_Shift_Ins_p.HP780fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	780						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGGTGCCACATCCCCCCCAGGG	0.639													8	83	---	---	---	---					
TACC2	10579	broad.mit.edu	37	10	123892158	123892159	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:123892158_123892159insC	ENST00000369005.1	+	6	5948_5949	c.5608_5609insC	c.(5608-5610)cccfs	p.P1870fs	TACC2_ENST00000493951.1_Intron|TACC2_ENST00000358010.1_Frame_Shift_Ins_p.P61fs|TACC2_ENST00000513429.1_Frame_Shift_Ins_p.P61fs|TACC2_ENST00000334433.3_Frame_Shift_Ins_p.P1870fs|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000515603.1_Frame_Shift_Ins_p.P1870fs|TACC2_ENST00000515273.1_Frame_Shift_Ins_p.P1919fs|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000453444.2_Frame_Shift_Ins_p.P1919fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1870						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCAGCCCGCTGCCCCCGCAGAC	0.525													13	2357	---	---	---	---					
DMBT1	1755	broad.mit.edu	37	10	124402882	124402883	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:124402882_124402883insC	ENST00000338354.3	+	53	7316_7317	c.7210_7211insC	c.(7210-7212)cccfs	p.P2404fs	DMBT1_ENST00000368956.2_Frame_Shift_Ins_p.P1776fs|DMBT1_ENST00000368909.3_Frame_Shift_Ins_p.P2404fs|DMBT1_ENST00000330163.4_Frame_Shift_Ins_p.P1776fs|DMBT1_ENST00000344338.3_Frame_Shift_Ins_p.P2394fs|DMBT1_ENST00000368955.3_Frame_Shift_Ins_p.P2394fs|DMBT1_ENST00000359586.6_Frame_Shift_Ins_p.P1124fs			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2404					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCAGCTGCAGACCCCCCCACGC	0.644													8	94	---	---	---	---					
MKI67	4288	broad.mit.edu	37	10	129905272	129905273	+	Frame_Shift_Ins	INS	-	-	TAGT			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:129905272_129905273insTAGT	ENST00000368654.3	-	13	5206_5207	c.4831_4832insACTA	c.(4831-4833)caafs	p.Q1611fs	MKI67_ENST00000368653.3_Frame_Shift_Ins_p.Q1251fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1611	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGCTACTTTGGCAGTTTTATCG	0.500													8	401	---	---	---	---					
ART5	116969	broad.mit.edu	37	11	3660979	3660980	+	Frame_Shift_Ins	INS	-	-	G	rs74708481		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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	237	---	---	---	---					
OR52B6	340980	broad.mit.edu	37	11	5602545	5602546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													12	1090	---	---	---	---					
FAM160A2	84067	broad.mit.edu	37	11	6244882	6244883	+	Frame_Shift_Ins	INS	-	-	ATGA			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:6244882_6244883insATGA	ENST00000265978.4	-	3	1092_1093	c.734_735insTCAT	c.(733-735)cacfs	p.H245fs	FAM160A2_ENST00000524416.1_Frame_Shift_Ins_p.H245fs|FAM160A2_ENST00000449352.2_Frame_Shift_Ins_p.H245fs	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	245					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGCCCACAGTGGGGCTCCCAGC	0.584													57	1191	---	---	---	---					
CNGA4	1262	broad.mit.edu	37	11	6263055	6263056	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:6263055_6263056insG	ENST00000533426.1	+	5	770_771	c.619_620insG	c.(619-621)gggfs	p.G207fs	CNGA4_ENST00000379936.2_Intron			Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	565					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGTGGGGTAGGGGGGAACAG	0.535													8	330	---	---	---	---					
ILK	3611	broad.mit.edu	37	11	6629352	6629353	+	Frame_Shift_Ins	INS	-	-	G	rs141701406		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:6629352_6629353insG	ENST00000396751.2	+	2	622_623	c.166_167insG	c.(166-168)gggfs	p.G56fs	ILK_ENST00000420936.2_Frame_Shift_Ins_p.G56fs|ILK_ENST00000528995.1_Frame_Shift_Ins_p.G56fs|ILK_ENST00000299421.4_Frame_Shift_Ins_p.G56fs|ILK_ENST00000537806.1_Intron	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	56	Interaction with LIMS1.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		GTTGATCATGCGGGGGGCACGG	0.564													9	324	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6655045	6655046	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:6655045_6655046insG	ENST00000299441.3	-	4	2603_2604	c.2192_2193insC	c.(2191-2193)cctfs	p.P731fs	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	731	Cadherin 7.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGTAAAAAGTGGGGGGCTGTT	0.604													12	727	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6661724	6661725	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:6661724_6661725insG	ENST00000299441.3	-	2	1531_1532	c.1120_1121insC	c.(1120-1122)agtfs	p.S374fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	374	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCAGACACTTGGGGGGAGCCA	0.569													8	417	---	---	---	---					
SPON1	10418	broad.mit.edu	37	11	14276276	14276277	+	RNA	DEL	GT	GT	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:14276276_14276277delGT	ENST00000310358.7	+	0	1627							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GACCTATGAGGTGTGTGTGTGT	0.594													10	355	---	---	---	---					
PLEKHA7	144100	broad.mit.edu	37	11	16838764	16838765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:16838764_16838765insC	ENST00000355661.3	-	11	1458_1459	c.1448_1449insG	c.(1447-1449)gtcfs	p.V483fs	PLEKHA7_ENST00000531066.1_Frame_Shift_Ins_p.V483fs|PLEKHA7_ENST00000448080.2_Frame_Shift_Ins_p.V483fs|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	483					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	p.G483V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GTGGCGAGGAGCCCCCCGAGGG	0.639													10	383	---	---	---	---					
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)gacfs	p.D101fs	PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs|PAMR1_ENST00000534803.1_5'UTR	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													63	1578	---	---	---	---					
ACCS	84680	broad.mit.edu	37	11	44089220	44089226	+	Frame_Shift_Del	DEL	TGTCTGG	TGTCTGG	-	rs151059930	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:44089220_44089226delTGTCTGG	ENST00000263776.8	+	2	477_483	c.43_49delTGTCTGG	c.(43-51)gcfs	p.CLG15fs	ACCS_ENST00000533208.1_3'UTR|ACCS_ENST00000432284.2_Frame_Shift_Del_p.CLG15fs	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	15							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TCCCACCACCTGTCTGGGCCCCACCTG	0.551													27	120	---	---	---	---					
CD82	3732	broad.mit.edu	37	11	44626656	44626657	+	Frame_Shift_Ins	INS	-	-	G	rs34170190	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:44626656_44626657insG	ENST00000227155.4	+	5	433_434	c.185_186insG	c.(184-186)gggfs	p.G62fs	RP11-58K22.5_ENST00000533814.1_RNA|CD82_ENST00000342935.3_Frame_Shift_Ins_p.G62fs|CD82_ENST00000530931.1_3'UTR	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	62						integral to plasma membrane	protein binding			large_intestine(1)|ovary(1)	2						TTCATCGGCGTGGGGGCAGTCA	0.594													8	658	---	---	---	---					
LRP4	4038	broad.mit.edu	37	11	46912010	46912011	+	Frame_Shift_Ins	INS	-	-	G	rs138301752		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:46912010_46912011insG	ENST00000378623.1	-	14	1974_1975	c.1732_1733insC	c.(1732-1734)tatfs	p.Y578fs		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	578					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)		GGCCTCAATACGGGGGGTGTTG	0.540											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	456	---	---	---	---					
LRP4	4038	broad.mit.edu	37	11	46921056	46921057	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:46921056_46921057insG	ENST00000378623.1	-	5	673		c.e5-2			NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4						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)		TGCGCATGTCTGGGGGGATGCG	0.599													7	596	---	---	---	---					
LRP4	4038	broad.mit.edu	37	11	46921521	46921522	+	Frame_Shift_Ins	INS	-	-	G	rs35014453		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:46921521_46921522insG	ENST00000378623.1	-	4	564_565	c.322_323insC	c.(322-324)ggafs	p.G108fs		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	108					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)		CTCACACTCCCGGGGGGCTGTG	0.609													9	418	---	---	---	---					
MYBPC3	4607	broad.mit.edu	37	11	47359101	47359103	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:47359101_47359103delTCT	ENST00000399249.2	-	24	2495_2497	c.2441_2443delAGA	c.(2440-2445)agc>a	p.KS814del	MYBPC3_ENST00000256993.4_In_Frame_Del_p.KS813del|MYBPC3_ENST00000545968.1_In_Frame_Del_p.KS814del			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	813	Fibronectin type-III 1.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CACCGGTAGCTCTTCTTCTTCTT	0.601													9	1378	---	---	---	---					
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													22	1640	---	---	---	---					
P2RX3	5024	broad.mit.edu	37	11	57116157	57116158	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:57116157_57116158insC	ENST00000263314.2	+	6	576_577	c.542_543insC	c.(541-543)tccfs	p.S181fs		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	181					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						AGCATCCGTTTCCCCCTCTTCA	0.530													7	379	---	---	---	---					
SLC43A3	29015	broad.mit.edu	37	11	57185234	57185235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:57185234_57185235insG	ENST00000395123.2	-	8	961_962	c.657_658insC	c.(655-660)ccactafs	p.L220fs	SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs	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													14	508	---	---	---	---					
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:57505845_57505846insC	ENST00000278422.4	+	4	396_397	c.384_385insC	c.(382-387)aaccccfs	p.NP128fs	TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs|TMX2-CTNND1_ENST00000528395.1_Intron	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													25	536	---	---	---	---					
CTNND1	1500	broad.mit.edu	37	11	57583445	57583446	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:57583445_57583446insG	ENST00000399050.4	+	20	3403_3404	c.2867_2868insG	c.(2866-2868)gggfs	p.G956fs	CTNND1_ENST00000361332.4_Frame_Shift_Ins_p.G950fs|CTNND1_ENST00000530748.1_Intron|CTNND1_ENST00000415361.2_Frame_Shift_Ins_p.G855fs|CTNND1_ENST00000529873.1_Frame_Shift_Ins_p.G875fs|CTNND1_ENST00000358694.6_Intron|CTNND1_ENST00000528232.1_Intron|CTNND1_ENST00000361391.6_Frame_Shift_Ins_p.G929fs|CTNND1_ENST00000531014.1_Frame_Shift_Ins_p.G627fs|CTNND1_ENST00000534579.1_Intron|CTNND1_ENST00000524630.1_Intron|CTNND1_ENST00000426142.2_Intron|CTNND1_ENST00000529919.1_Intron|CTNND1_ENST00000526938.1_Intron|CTNND1_ENST00000399039.4_Intron|CTNND1_ENST00000529526.1_Intron|CTNND1_ENST00000360682.6_Frame_Shift_Ins_p.G935fs|CTNND1_ENST00000526357.1_Frame_Shift_Ins_p.G896fs|CTNND1_ENST00000529986.1_Intron|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000532844.1_Frame_Shift_Ins_p.G902fs|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000528621.1_Intron|CTNND1_ENST00000428599.2_Intron|CTNND1_ENST00000532787.1_Frame_Shift_Ins_p.G828fs|CTNND1_ENST00000532649.1_Intron|CTNND1_ENST00000533667.1_Frame_Shift_Ins_p.G606fs|CTNND1_ENST00000361796.4_Intron|CTNND1_ENST00000530094.1_Frame_Shift_Ins_p.G849fs|CTNND1_ENST00000527467.1_Frame_Shift_Ins_p.G633fs|CTNND1_ENST00000532245.1_Intron|CTNND1_ENST00000532463.1_Intron	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	956					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TTGGATGATGAGGGGGGCCAAG	0.500													8	289	---	---	---	---					
DTX4	23220	broad.mit.edu	37	11	58949549	58949550	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:58949549_58949550insC	ENST00000227451.3	+	2	653_654	c.549_550insC	c.(547-552)tcccccfs	p.SP183fs	DTX4_ENST00000532982.1_Frame_Shift_Ins_p.SP77fs	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	183					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CAGCCACCTCGCCCCCCATGTC	0.653													9	537	---	---	---	---					
MS4A1	931	broad.mit.edu	37	11	60230512	60230513	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:60230512_60230513insG	ENST00000534668.1	+	3	486_487	c.197_198insG	c.(196-198)cggfs	p.R66fs	MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000389939.2_Frame_Shift_Ins_p.R66fs|MS4A1_ENST00000345732.4_Frame_Shift_Ins_p.R66fs|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000532073.1_Frame_Shift_Ins_p.R66fs	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	66					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	CACATTGCCCTGGGGGGTCTTC	0.520													9	1339	---	---	---	---					
DDB1	1642	broad.mit.edu	37	11	61093159	61093160	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:61093159_61093160insC	ENST00000301764.7	-	6	1082_1083	c.685_686insG	c.(685-687)catfs	p.H229fs	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	229	Interaction with CDT1.				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						AATGATGATGGCCCCCCCAAAG	0.490								Nucleotide excision repair (NER)					12	161	---	---	---	---					
DDB1	1642	broad.mit.edu	37	11	61094367	61094368	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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)					10	262	---	---	---	---					
CPSF7	79869	broad.mit.edu	37	11	61183884	61183885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:61183884_61183885insG	ENST00000340437.4	-	6	866_867	c.786_787insC	c.(784-789)ccgtgtfs	p.C263fs	CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000394888.4_Frame_Shift_Ins_p.C220fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	220	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGCAGCACACTGGGGGGCTTAT	0.594													12	873	---	---	---	---					
MYRF	745	broad.mit.edu	37	11	61539012	61539013	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:61539012_61539013insC	ENST00000278836.5	+	6	877_878	c.781_782insC	c.(781-783)cccfs	p.P261fs	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Frame_Shift_Ins_p.P252fs	NM_001127392.1	NP_001120864.1			myelin regulatory factor									p.S255fs*74(1)									GCACTCTGAATCCCCCCCCAGC	0.634													10	108	---	---	---	---					
BEST1	7439	broad.mit.edu	37	11	61727447	61727448	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:61727447_61727448insC	ENST00000449131.2	+	8	938_939	c.852_853insC	c.(850-855)caccccfs	p.HP284fs	BEST1_ENST00000378043.4_Frame_Shift_Ins_p.HP344fs|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000435278.2_Intron|BEST1_ENST00000526988.1_Frame_Shift_Ins_p.T306fs|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000378042.3_Frame_Shift_Ins_p.HP257fs	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN	bestrophin 1	344					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CCGAGCCACAGCCCCCCTACAC	0.624													15	1137	---	---	---	---					
AHNAK	79026	broad.mit.edu	37	11	62293191	62293194	+	Frame_Shift_Del	DEL	GCAT	GCAT	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:62293191_62293194delGCAT	ENST00000378024.4	-	5	8969_8972	c.8695_8698delATGC	c.(8695-8700)ccfs	p.MP2899fs	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2899					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)				CTGAACTTGGGCATTTTCATCTTG	0.525													11	971	---	---	---	---					
INTS5	80789	broad.mit.edu	37	11	62415052	62415053	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:62415052_62415053insG	ENST00000330574.2	-	2	2551_2552	c.2499_2500insC	c.(2497-2502)ccaggafs	p.G834fs		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	834					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GCGTGTTCCTCGGGGGGCCAGG	0.649													8	400	---	---	---	---					
BSCL2	26580	broad.mit.edu	37	11	62458782	62458783	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:62458782_62458783insC	ENST00000433053.1	-	8	1530_1531	c.974_975insG	c.(973-975)gatfs	p.D325fs	BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000403550.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000278893.7_Intron|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.D325fs			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													28	511	---	---	---	---					
SLC22A8	9376	broad.mit.edu	37	11	62760967	62760968	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:62760967_62760968insC	ENST00000336232.2	-	10	1592_1593	c.1457_1458insG	c.(1456-1458)gagfs	p.E486fs	SLC22A8_ENST00000545207.1_Frame_Shift_Ins_p.E395fs|SLC22A8_ENST00000430500.2_Frame_Shift_Ins_p.E486fs|SLC22A8_ENST00000311438.8_Frame_Shift_Ins_p.E486fs|SLC22A8_ENST00000535878.1_Frame_Shift_Ins_p.E363fs	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	486					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GGGCAGCACTGCCCCCGAGGAG	0.594													8	1041	---	---	---	---					
RASGRP2	10235	broad.mit.edu	37	11	64508387	64508388	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:64508387_64508388insC	ENST00000394430.1	-	4	2125_2126	c.403_404insG	c.(403-405)actfs	p.T135fs	RASGRP2_ENST00000377487.1_Frame_Shift_Ins_p.T135fs|RASGRP2_ENST00000377497.3_Intron|RASGRP2_ENST00000394428.1_3'UTR|RASGRP2_ENST00000377486.3_Frame_Shift_Ins_p.T135fs|RASGRP2_ENST00000394432.3_Intron|RASGRP2_ENST00000377494.1_Intron|RASGRP2_ENST00000354024.3_Intron|RASGRP2_ENST00000394429.1_3'UTR|RASGRP2_ENST00000377489.1_Frame_Shift_Ins_p.T135fs			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	0					platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GATACTGAGTGCCCCCCCAGCC	0.530											OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	11	184	---	---	---	---					
SLC22A20	440044	broad.mit.edu	37	11	65004406	65004407	+	RNA	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:65004406_65004407insG	ENST00000525437.1	+	0	1609							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						AGGAAATAACTGGGGGGCAAAT	0.614													8	452	---	---	---	---					
MALAT1	378938	broad.mit.edu	37	11	65268924	65268925	+	RNA	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:65268924_65268925insC	ENST00000534336.1	+	0	3692_3693					NR_002819.2																						TACTCTTTTTTCCCCCCACCCC	0.416													2	4	---	---	---	---					
RELA	5970	broad.mit.edu	37	11	65422045	65422046	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													11	819	---	---	---	---					
RELA	5970	broad.mit.edu	37	11	65423202	65423202	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:65423202delG	ENST00000525693.1	-	10	1052	c.990delC	c.(988-990)cgfs	p.R330fs	RELA_ENST00000308639.9_Frame_Shift_Del_p.R327fs|RELA_ENST00000406246.3_Frame_Shift_Del_p.R330fs			Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	330					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						GCACAGCAATGCGTCGAGGTG	0.617													10	225	---	---	---	---					
YIF1A	10897	broad.mit.edu	37	11	66055104	66055105	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													8	166	---	---	---	---					
KDM2A	22992	broad.mit.edu	37	11	67012878	67012879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:67012878_67012879insG	ENST00000529006.2	+	14	2228_2229	c.1782_1783insG	c.(1780-1785)ttggggfs	p.LG594fs	KDM2A_ENST00000530342.1_Frame_Shift_Ins_p.LG155fs|KDM2A_ENST00000398645.2_Frame_Shift_Ins_p.LG594fs|KDM2A_ENST00000308783.5_Frame_Shift_Ins_p.LG52fs|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	594					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TGAAGAAGTTTGGGGGGCCTGG	0.545													7	479	---	---	---	---					
PPFIA1	8500	broad.mit.edu	37	11	70194406	70194407	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:70194406_70194407insC	ENST00000253925.7	+	16	2258_2259	c.2043_2044insC	c.(2041-2046)atccccfs	p.IP681fs	PPFIA1_ENST00000389547.3_Frame_Shift_Ins_p.IP681fs|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	681					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGAGCTCCATTCCCCCCTACCC	0.554													15	1697	---	---	---	---					
PPFIA1	8500	broad.mit.edu	37	11	70202321	70202322	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:70202321_70202322insG	ENST00000253925.7	+	19	2758_2759	c.2543_2544insG	c.(2542-2544)tggfs	p.W848fs	PPFIA1_ENST00000389547.3_Frame_Shift_Ins_p.W848fs|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	848					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CTTAGCAAATTGGGGGGACAGG	0.411													9	251	---	---	---	---					
NUMA1	4926	broad.mit.edu	37	11	71746964	71746965	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:71746964_71746965insC	ENST00000393695.3	-	3	356_357	c.25_26insG	c.(25-27)tgcfs	p.C9fs	NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.C9fs|NUMA1_ENST00000351960.6_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	483	---	---	---	---					
PLEKHB1	58473	broad.mit.edu	37	11	73371839	73371840	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:73371839_73371840insC	ENST00000354190.5	+	7	968_969	c.537_538insC	c.(535-540)gtccccfs	p.VP179fs	PLEKHB1_ENST00000535129.1_Frame_Shift_Ins_p.VP125fs|PLEKHB1_ENST00000398492.4_Frame_Shift_Ins_p.VP144fs|PLEKHB1_ENST00000543085.1_Frame_Shift_Ins_p.VP74fs|PLEKHB1_ENST00000398494.4_Frame_Shift_Ins_p.VP160fs|PLEKHB1_ENST00000227214.6_Frame_Shift_Ins_p.VP125fs	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	179					multicellular organismal development|phototransduction	cytoplasm|integral to membrane	signal transducer activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						ACGAGGTGGTGCCCCCCAATGC	0.634											OREG0021217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	581	---	---	---	---					
MYO7A	4647	broad.mit.edu	37	11	76867057	76867058	+	Frame_Shift_Ins	INS	-	-	C	rs111033187		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:76867057_76867058insC	ENST00000409709.3	+	5	662_663	c.390_391insC	c.(388-393)atccccfs	p.IP130fs	MYO7A_ENST00000409893.1_Frame_Shift_Ins_p.IP130fs|MYO7A_ENST00000409619.2_Frame_Shift_Ins_p.IP119fs|MYO7A_ENST00000458637.2_Frame_Shift_Ins_p.IP130fs	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	130	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			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						TTGGGGAGATGCCCCCCCACAT	0.564													15	135	---	---	---	---					
KCTD14	65987	broad.mit.edu	37	11	77734222	77734223	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:77734222_77734223insG	ENST00000353172.5	-	1	117_118	c.73_74insC	c.(73-75)gccfs	p.A25fs	NDUFC2-KCTD14_ENST00000528251.1_Intron|RP11-7I15.4_ENST00000526730.1_RNA|KCTD14_ENST00000533144.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron	NM_001203260.1|NM_001203262.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	25						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			CCGCCTGGGCCGGGGGGACTGG	0.688													10	249	---	---	---	---					
KCTD21	283219	broad.mit.edu	37	11	77885567	77885568	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:77885567_77885568insC	ENST00000340067.3	-	2	311_312	c.33_34insG	c.(31-36)ggagctfs	p.A12fs	KCTD21-AS1_ENST00000600795.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	12	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			GTATAGAGCTTCCCCCCGACGT	0.574													13	420	---	---	---	---					
GRM5	2915	broad.mit.edu	37	11	88258517	88258518	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:88258517_88258518insG	ENST00000418177.2	-	9	3052_3053	c.2685_2686insC	c.(2683-2688)ccaaggfs	p.R896fs	GRM5_ENST00000393297.1_Splice_Site|GRM5_ENST00000305447.4_Frame_Shift_Ins_p.R896fs|GRM5_ENST00000455756.2_Intron|GRM5_ENST00000305432.5_Intron			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	896					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	ATACTCCCTTTGGGGGTGAAAC	0.485													7	1966	---	---	---	---					
MMP8	4317	broad.mit.edu	37	11	102593296	102593297	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:102593296_102593297insA	ENST00000236826.3	-	2	308_309	c.210_211insT	c.(208-213)ttggttfs	p.LV70fs		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	70					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		ACATTCAACCCAAAAAATCGCT	0.436													8	1770	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	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													28	1011	---	---	---	---					
SIK3	23387	broad.mit.edu	37	11	116732017	116732018	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:116732017_116732018insG	ENST00000375300.1	-	18	2258_2259	c.2253_2254insC	c.(2251-2256)cctgagfs	p.E752fs	SIK3_ENST00000446921.2_Frame_Shift_Ins_p.E752fs|SIK3_ENST00000434315.2_Frame_Shift_Ins_p.E593fs|SIK3_ENST00000542607.1_Frame_Shift_Ins_p.E694fs|SIK3_ENST00000292055.4_Frame_Shift_Ins_p.E694fs|SIK3_ENST00000375288.1_Intron|SIK3_ENST00000488337.1_Intron			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	694	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						GCACTGCTCATGGGGGGAGGAC	0.485													10	632	---	---	---	---					
SIK3	23387	broad.mit.edu	37	11	116747030	116747031	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:116747030_116747031insG	ENST00000375300.1	-	8	1038_1039	c.1033_1034insC	c.(1033-1035)gaafs	p.E345fs	SIK3_ENST00000446921.2_Frame_Shift_Ins_p.E345fs|SIK3_ENST00000434315.2_Frame_Shift_Ins_p.E186fs|SIK3_ENST00000542607.1_Frame_Shift_Ins_p.E287fs|SIK3_ENST00000292055.4_Frame_Shift_Ins_p.E287fs|SIK3_ENST00000375288.1_5'UTR			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	287						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						ATCCTCATTCAGGGGGTCCACC	0.465													8	1279	---	---	---	---					
PCSK7	9159	broad.mit.edu	37	11	117089205	117089206	+	Frame_Shift_Ins	INS	-	-	G	rs142953140	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:117089205_117089206insG	ENST00000320934.3	-	12	2140_2141	c.1510_1511insC	c.(1510-1512)ttcfs	p.F504fs	PCSK7_ENST00000540028.1_Frame_Shift_Ins_p.F145fs	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	504	Homo B/P.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CTCCAGGGAACGGGGGGACTGC	0.505			T	IGH@	MLCLS								11	513	---	---	---	---					
CEP164	22897	broad.mit.edu	37	11	117234200	117234201	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:117234200_117234201insG	ENST00000278935.3	+	8	890_891	c.743_744insG	c.(742-744)cggfs	p.R248fs		NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	248					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		ATTGGGGCACTGGGGGGTGACT	0.470													7	243	---	---	---	---					
KMT2A	4297	broad.mit.edu	37	11	118343528	118343529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:118343528_118343529insC	ENST00000534358.1	+	3	1677_1678	c.1654_1655insC	c.(1654-1656)cccfs	p.P552fs	KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.P552fs|KMT2A_ENST00000389506.5_Frame_Shift_Ins_p.P552fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TCTACAAAGTGCCCCCCAGCAG	0.510													8	302	---	---	---	---					
BCL9L	283149	broad.mit.edu	37	11	118770651	118770652	+	Frame_Shift_Ins	INS	-	-	G	rs139987150		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:118770651_118770652insG	ENST00000334801.3	-	7	4344_4345	c.3380_3381insC	c.(3379-3381)cccfs	p.P1127fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1127	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCGGTGGTGGTGGGGGGGGCAG	0.703													9	35	---	---	---	---					
NLRX1	79671	broad.mit.edu	37	11	119050610	119050611	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:119050610_119050611insG	ENST00000409109.1	+	7	2467_2468	c.1880_1881insG	c.(1879-1881)aggfs	p.R627fs	NLRX1_ENST00000292199.2_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000525863.1_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000409265.4_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000409991.1_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000469103.2_3'UTR			Q86UT6	NLRX1_HUMAN	NLR family member X1	627	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCATGTTCATGGGGGGGCTTC	0.624													13	306	---	---	---	---					
CCDC153	283152	broad.mit.edu	37	11	119063867	119063868	+	Frame_Shift_Ins	INS	-	-	C	rs116554211	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:119063867_119063868insC	ENST00000503566.2	-	4	341_342	c.342_343insG	c.(340-345)ggagctfs	p.A115fs	CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.A115fs			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	115										lung(3)|stomach(1)	4						CTACCTAGCTGCCCCCGAAGGC	0.589													8	983	---	---	---	---					
OR8B4	283162	broad.mit.edu	37	11	124294014	124294015	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:124294014_124294015insA	ENST00000356130.3	-	1	774_775	c.753_754insT	c.(751-756)ttggtcfs	p.LV251fs		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GTCCCTGACCCAAAAAACAGAG	0.450													8	690	---	---	---	---					
TBRG1	84897	broad.mit.edu	37	11	124500639	124500640	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:124500639_124500640insG	ENST00000441174.3	+	7	1040		c.e7-1		TBRG1_ENST00000375005.4_Splice_Site|TBRG1_ENST00000438907.2_Splice_Site	NM_032811.2	NP_116200.2	Q3YBR2	TBRG1_HUMAN	transforming growth factor beta regulator 1						cell cycle arrest|DNA replication|negative regulation of cell proliferation|nucleolus to nucleoplasm transport|protein stabilization	nucleus	DNA binding|protein binding			kidney(1)|prostate(1)	2	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0218)		TCTCCTGTTTAGGGGGAAACTA	0.441													8	980	---	---	---	---					
PKNOX2	63876	broad.mit.edu	37	11	125267910	125267911	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:125267910_125267911insG	ENST00000298282.9	+	7	811_812	c.540_541insG	c.(538-543)ctggggfs	p.LG180fs	PKNOX2_ENST00000542175.1_Frame_Shift_Ins_p.LG116fs|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	180						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GGAATGATCTAGGGGGGCCCTA	0.535													7	441	---	---	---	---					
ADAMTS8	11095	broad.mit.edu	37	11	130275723	130275724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:130275723_130275724insG	ENST00000257359.6	-	9	3105_3106	c.2399_2400insC	c.(2398-2400)caafs	p.Q800fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	800	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ATTTGACTTTTGGGGGGAAGAC	0.579													17	1294	---	---	---	---					
IGSF9B	22997	broad.mit.edu	37	11	133807826	133807827	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:133807826_133807827insG	ENST00000321016.8	-	4	669_670	c.439_440insC	c.(439-441)gtafs	p.V147fs	IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.V147fs			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	147	Ig-like 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCGATGTACTGGGGGGGTGTT	0.574													7	190	---	---	---	---					
NCAPD3	23310	broad.mit.edu	37	11	134062758	134062759	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:134062758_134062759insC	ENST00000534548.2	-	16	1934_1935	c.1870_1871insG	c.(1870-1872)ggtfs	p.G624fs		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	624					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			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)		CACCGGGACCACCCCCCGCAAC	0.540													15	415	---	---	---	---					
GLB1L3	112937	broad.mit.edu	37	11	134181004	134181005	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:134181004_134181005insC	ENST00000431683.2	+	13	1227_1228	c.1227_1228insC	c.(1225-1230)taccccfs	p.YP409fs		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	409					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		AGGCTGTGTATCCCCCCGTGAG	0.604													23	3017	---	---	---	---					
KDM5A	5927	broad.mit.edu	37	12	442810	442811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:442810_442811insC	ENST00000399788.2	-	12	1857_1858	c.1495_1496insG	c.(1495-1497)gccfs	p.A499fs	KDM5A_ENST00000382815.4_Frame_Shift_Ins_p.A499fs	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	499	JmjC.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TGTCTTTGGCTCCCCCCTAGCA	0.465			T	NUP98	AML								11	409	---	---	---	---					
VWF	7450	broad.mit.edu	37	12	6076653	6076654	+	Splice_Site	INS	-	-	G	rs112100565		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:6076653_6076654insG	ENST00000261405.5	-	47	8139_8140	c.7887_splice	c.e47+1	p.G2629_splice		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2629	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)	CTCTCTTACCAGGGGGCAGGGG	0.574													7	392	---	---	---	---					
VWF	7450	broad.mit.edu	37	12	6128170	6128171	+	Frame_Shift_Ins	INS	-	-	G	rs61750092	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:6128170_6128171insG	ENST00000261405.5	-	28	4667_4668	c.4413_4414insC	c.(4411-4416)ccacatfs	p.H1472fs		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1472			D -> H (in dbSNP:rs1800383).		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)	TGTGCCATGTCGGGGGGCAGAG	0.614													12	191	---	---	---	---					
VWF	7450	broad.mit.edu	37	12	6153463	6153464	+	Frame_Shift_Ins	INS	-	-	G	rs137990643	by1000genomes	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													9	672	---	---	---	---					
VWF	7450	broad.mit.edu	37	12	6153588	6153589	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:6153588_6153589insG	ENST00000261405.5	-	18	2564_2565	c.2310_2311insC	c.(2308-2313)cctggtfs	p.G771fs		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	771	Amino-terminal.				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)	AGCTTGACCATGGGGGGCCGAC	0.545													7	369	---	---	---	---					
VWF	7450	broad.mit.edu	37	12	6161822	6161823	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:6161822_6161823insG	ENST00000261405.5	-	16	2326_2327	c.2072_2073insC	c.(2071-2073)cggfs	p.R691fs		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	691	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)	TGTAGAGCCCTGGGGGGCAGAA	0.609													10	755	---	---	---	---					
CHD4	1108	broad.mit.edu	37	12	6701671	6701672	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:6701671_6701672insT	ENST00000309577.6	-	19	2998_2999	c.2835_2836insA	c.(2833-2838)aatgcafs	p.NA945fs	CHD4_ENST00000544484.1_Frame_Shift_Ins_p.NA942fs|CHD4_ENST00000357008.2_Frame_Shift_Ins_p.NA945fs|CHD4_ENST00000544040.1_Frame_Shift_Ins_p.NA938fs			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	945					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ATGTCATGCAGTTTTTTTATCT	0.460													7	1123	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6923985	6923986	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:6923985_6923986insC	ENST00000011653.4	+	5	692_693	c.434_435insC	c.(433-435)accfs	p.T145fs	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.T90fs	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													23	1961	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-492)cggfs	p.R164fs	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs	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													28	846	---	---	---	---					
ATN1	1822	broad.mit.edu	37	12	7045534	7045535	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:7045534_7045535insC	ENST00000356654.4	+	5	1341_1342	c.1104_1105insC	c.(1102-1107)gcccccfs	p.AP368fs	ATN1_ENST00000396684.2_Frame_Shift_Ins_p.AP368fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	368					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						CTGCTCCAGCGCCCCCCATGAG	0.589													8	692	---	---	---	---					
ATN1	1822	broad.mit.edu	37	12	7045699	7045700	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:7045699_7045700insC	ENST00000356654.4	+	5	1506_1507	c.1269_1270insC	c.(1267-1272)caccccfs	p.HP423fs	ATN1_ENST00000396684.2_Frame_Shift_Ins_p.HP423fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	423					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						TCTCCAATCAGCCCCCCAAGTA	0.614													16	393	---	---	---	---					
FOXJ2	55810	broad.mit.edu	37	12	8196301	8196301	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:8196301delC	ENST00000162391.3	+	4	1558	c.413delC	c.(412-414)tcfs	p.S138fs	FOXJ2_ENST00000428177.2_Frame_Shift_Del_p.S138fs	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	138					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TTCCAGGGTTCCTATTGGACA	0.443													17	1143	---	---	---	---					
PRB1	5542	broad.mit.edu	37	12	11506884	11506885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:11506884_11506885insG	ENST00000500254.2	-	3	189_190	c.152_153insC	c.(151-153)cccfs	p.P51fs	PRB1_ENST00000545626.1_Frame_Shift_Ins_p.P51fs|PRB1_ENST00000546254.1_Frame_Shift_Ins_p.P51fs	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	234						extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTGGAGGAGGTGGGGGGCCCTG	0.579													11	1190	---	---	---	---					
LRP6	4040	broad.mit.edu	37	12	12278317	12278318	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:12278317_12278318insC	ENST00000261349.4	-	21	4437_4438	c.4361_4362insG	c.(4360-4362)gagfs	p.E1454fs	LRP6_ENST00000543091.1_Frame_Shift_Ins_p.E1409fs|LRP6_ENST00000540415.1_5'UTR|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1454					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GTCCACTGCTTCCCCCCATGAT	0.426													7	322	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													23	1124	---	---	---	---					
WBP11	51729	broad.mit.edu	37	12	14947511	14947512	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:14947511_14947512insG	ENST00000261167.2	-	7	913_914	c.680_681insC	c.(679-681)ccgfs	p.P227fs	WBP11_ENST00000537574.1_Frame_Shift_Ins_p.P227fs	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	227					mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CTCGCCTACGAGGGGGAAGATC	0.480													9	1225	---	---	---	---					
FGD4	121512	broad.mit.edu	37	12	32791721	32791722	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:32791721_32791722insC	ENST00000427716.2	+	16	2459_2460	c.2035_2036insC	c.(2035-2037)cccfs	p.P679fs	FGD4_ENST00000266482.3_Frame_Shift_Ins_p.P431fs|FGD4_ENST00000546442.1_Frame_Shift_Ins_p.P586fs|FGD4_ENST00000534526.2_Frame_Shift_Ins_p.P816fs|FGD4_ENST00000531134.1_Frame_Shift_Ins_p.P764fs|FGD4_ENST00000525053.1_Frame_Shift_Ins_p.P791fs	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	679	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.A679V(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CATGTATGGTGCCCCCCAGGTA	0.505													10	283	---	---	---	---					
PRKAG1	5571	broad.mit.edu	37	12	49399308	49399309	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:49399308_49399309insA	ENST00000548065.1	-	4	642_643	c.186_187insT	c.(184-189)ttctttfs	p.F63fs	PRKAG1_ENST00000552212.1_Frame_Shift_Ins_p.F31fs|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|PRKAG1_ENST00000547306.1_Frame_Shift_Ins_p.F12fs|PRKAG1_ENST00000316299.5_Frame_Shift_Ins_p.F63fs|PRKAG1_ENST00000395170.3_5'UTR|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	63	CBS 1.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						GTCACCAAAGCAAAAAAAGCTT	0.411													7	360	---	---	---	---					
TUBA1A	7846	broad.mit.edu	37	12	49580267	49580268	+	Frame_Shift_Ins	INS	-	-	G	rs146262934		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:49580267_49580268insG	ENST00000546918.1	-	2	438_439	c.352_353insC	c.(352-354)gctfs	p.A118fs	TUBA1A_ENST00000550767.1_Intron|TUBA1A_ENST00000301071.7_Intron|TUBA1A_ENST00000295766.5_Intron			Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	0					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						ggggaggagcaggggggaggag	0.624													11	712	---	---	---	---					
TROAP	10024	broad.mit.edu	37	12	49725380	49725381	+	Frame_Shift_Ins	INS	-	-	C	rs78835037		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:49725380_49725381insC	ENST00000551245.1	+	14	2698_2699	c.2587_2588insC	c.(2587-2589)cccfs	p.P863fs	TROAP_ENST00000547923.1_Frame_Shift_Ins_p.P452fs|TROAP_ENST00000257909.3_Frame_Shift_Ins_p.P773fs			Q12815	TROAP_HUMAN	trophinin associated protein	0					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGGTTCTGCTGCCCCCCAGGGC	0.550											OREG0021792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	772	---	---	---	---					
DNAJC22	79962	broad.mit.edu	37	12	49742768	49742769	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:49742768_49742769insG	ENST00000549441.2	+	3	1317_1318	c.113_114insG	c.(112-114)cggfs	p.R38fs	DNAJC22_ENST00000395069.3_Frame_Shift_Ins_p.R38fs			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	38					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						ATGCTGACCCTGGGGGGAGGTG	0.668													10	272	---	---	---	---					
PRPF40B	25766	broad.mit.edu	37	12	50037050	50037051	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:50037050_50037051insC	ENST00000261897.1	+	22	2699_2700	c.2148_2149insC	c.(2146-2151)cgccccfs	p.RP716fs	PRPF40B_ENST00000548825.2_Frame_Shift_Ins_p.RP750fs|PRPF40B_ENST00000380281.1_Frame_Shift_Ins_p.RP729fs|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	729					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CATCTCTCCGGCCCCCCAAGCG	0.614													11	246	---	---	---	---					
KRT6B	3854	broad.mit.edu	37	12	52843340	52843341	+	Frame_Shift_Del	DEL	CA	CA	-	rs145327282		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:52843340_52843341delCA	ENST00000252252.3	-	5	1036_1037	c.989_990delTG	c.(988-990)cfs	p.L330fs		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	330	Linker 12.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TGATGCTGTCCAGGTCCAGGTT	0.545													83	1179	---	---	---	---					
KRT79	338785	broad.mit.edu	37	12	53215777	53215778	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:53215777_53215778insC	ENST00000330553.5	-	9	1520_1521	c.1486_1487insG	c.(1486-1488)cacfs	p.H496fs		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	496	Tail.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACCCTTGGTGGCCCCCCCACTC	0.619													10	202	---	---	---	---					
KRT79	338785	broad.mit.edu	37	12	53227665	53227666	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:53227665_53227666insG	ENST00000330553.5	-	1	413_414	c.379_380insC	c.(379-381)ccafs	p.P127fs		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	127	Head.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCCACATGGAGGGGGGTCAGC	0.604													7	779	---	---	---	---					
KRT78	196374	broad.mit.edu	37	12	53242469	53242470	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:53242469_53242470insC	ENST00000304620.4	-	1	308_309	c.245_246insG	c.(244-246)gatfs	p.D82fs		NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	82	Gly-rich.|Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CTTCTTGGATGCCCCCCGGAGG	0.629													11	144	---	---	---	---					
AMHR2	269	broad.mit.edu	37	12	53819644	53819645	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:53819644_53819645insG	ENST00000257863.4	+	6	873_874	c.793_794insG	c.(793-795)gggfs	p.G265fs	AMHR2_ENST00000379791.3_Frame_Shift_Ins_p.G265fs|AMHR2_ENST00000550311.1_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													9	169	---	---	---	---					
DCD	117159	broad.mit.edu	37	12	55039009	55039010	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:55039009_55039010insC	ENST00000456047.2	-	4	425_426	c.236_237insG	c.(235-237)gctfs	p.A79fs	DCD_ENST00000293371.6_Frame_Shift_Ins_p.A79fs			P81605	DCD_HUMAN	dermcidin	79					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				GTTTTCCGAGTCCCCCCACAGC	0.480													9	570	---	---	---	---					
ITGA7	3679	broad.mit.edu	37	12	56094098	56094099	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:56094098_56094099insC	ENST00000257880.7	-	5	968_969	c.749_750insG	c.(748-750)ggafs	p.G250fs	ITGA7_ENST00000257879.6_Intron|ITGA7_ENST00000452168.2_Frame_Shift_Ins_p.G153fs|ITGA7_ENST00000394230.2_Frame_Shift_Ins_p.G250fs|ITGA7_ENST00000347027.6_Intron|ITGA7_ENST00000553804.1_Frame_Shift_Ins_p.G250fs|ITGA7_ENST00000555728.1_Frame_Shift_Ins_p.G250fs|ITGA7_ENST00000394229.2_Intron			Q13683	ITA7_HUMAN	integrin, alpha 7	250					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCTCCTTCTCTCCCCCCGCCTC	0.649													13	348	---	---	---	---					
DGKA	1606	broad.mit.edu	37	12	56347513	56347514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:56347513_56347514insC	ENST00000331886.5	+	24	2623_2624	c.2169_2170insC	c.(2167-2172)ccccccfs	p.PP723fs	DGKA_ENST00000551156.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000394147.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	723					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCATGGGCCCACCCCCCCGCTC	0.579													15	302	---	---	---	---					
IKZF4	64375	broad.mit.edu	37	12	56429092	56429093	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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_ENST00000431367.2_Frame_Shift_Ins_p.G477fs|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.G579fs			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													26	1287	---	---	---	---					
ESYT1	23344	broad.mit.edu	37	12	56531341	56531342	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:56531341_56531342insG	ENST00000394048.5	+	18	2261_2262	c.1997_1998insG	c.(1996-1998)tggfs	p.W666fs	ESYT1_ENST00000541590.1_Frame_Shift_Ins_p.W676fs|ESYT1_ENST00000267113.4_Frame_Shift_Ins_p.W676fs	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	666	C2 3.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GACCGTTTCTTGGGGGGACTGG	0.550													11	588	---	---	---	---					
ESYT1	23344	broad.mit.edu	37	12	56532024	56532025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:56532024_56532025insC	ENST00000394048.5	+	21	2569_2570	c.2305_2306insC	c.(2305-2307)cccfs	p.P769fs	ESYT1_ENST00000541590.1_Frame_Shift_Ins_p.P779fs|ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000267113.4_Frame_Shift_Ins_p.P779fs	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	769						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GGAGCGTCTCACCCCCCGTCCC	0.599													14	482	---	---	---	---					
GPR182	11318	broad.mit.edu	37	12	57389468	57389469	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:57389468_57389469insC	ENST00000300098.1	+	2	694_695	c.475_476insC	c.(475-477)cccfs	p.P159fs		NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	159						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CACCAGCGCCTCCCCCTCCTGG	0.599													7	761	---	---	---	---					
ZBTB39	9880	broad.mit.edu	37	12	57396635	57396636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													12	1796	---	---	---	---					
LRP1	4035	broad.mit.edu	37	12	57572241	57572242	+	Frame_Shift_Ins	INS	-	-	G	rs139915490		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													15	467	---	---	---	---					
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)gggfs	p.G272fs	GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTGC	0.599													110	1377	---	---	---	---					
MBD6	114785	broad.mit.edu	37	12	57921305	57921306	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:57921305_57921306insC	ENST00000355673.3	+	8	2454_2455	c.2098_2099insC	c.(2098-2100)cccfs	p.P700fs	MBD6_ENST00000431731.2_Frame_Shift_Ins_p.P700fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	700	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TGTCCTGAGTGCCCCCCAACCT	0.530													11	102	---	---	---	---					
KIF5A	3798	broad.mit.edu	37	12	57972047	57972048	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:57972047_57972048insG	ENST00000455537.2	+	23	2734_2735	c.2460_2461insG	c.(2458-2463)agggggfs	p.RG820fs	KIF5A_ENST00000286452.5_Frame_Shift_Ins_p.RG731fs	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	820					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CCGAAGACAGTGGGGGGATTCA	0.505													21	1197	---	---	---	---					
PIP4K2C	79837	broad.mit.edu	37	12	57995030	57995031	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:57995030_57995031insC	ENST00000354947.5	+	9	1100_1101	c.1084_1085insC	c.(1084-1086)cccfs	p.P362fs	PIP4K2C_ENST00000540759.2_Frame_Shift_Ins_p.P362fs|PIP4K2C_ENST00000550465.1_Frame_Shift_Ins_p.P344fs|PIP4K2C_ENST00000422156.3_Frame_Shift_Ins_p.P314fs			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													8	422	---	---	---	---					
CDK4	1019	broad.mit.edu	37	12	58143030	58143031	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:58143030_58143031insG	ENST00000257904.6	-	7	1118_1119	c.753_754insC	c.(751-756)ccgaggfs	p.R252fs	TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000540325.1_Frame_Shift_Ins_p.R132fs|CDK4_ENST00000549606.1_5'UTR|CDK4_ENST00000312990.6_3'UTR	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	252	Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CGGGGCCCTCTGGGGGGAAAGG	0.624			Mis			melanoma			Hereditary Melanoma				8	630	---	---	---	---					
METTL21B	25895	broad.mit.edu	37	12	58174036	58174037	+	Splice_Site	INS	-	-	G	rs143311691		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:58174036_58174037insG	ENST00000333012.5	+	4	475		c.e4-1		RP11-571M6.15_ENST00000471530.1_Intron|METTL21B_ENST00000551420.1_Splice_Site|METTL21B_ENST00000300209.8_Splice_Site|METTL21B_ENST00000548256.1_Splice_Site|RP11-571M6.15_ENST00000553083.1_Intron	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													14	371	---	---	---	---					
AVIL	10677	broad.mit.edu	37	12	58204895	58204896	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:58204895_58204896insC	ENST00000537081.1	-	4	331_332	c.332_333insG	c.(331-333)ggtfs	p.G111fs	AVIL_ENST00000257861.3_Frame_Shift_Ins_p.G118fs			O75366	AVIL_HUMAN	advillin	118	Core (By similarity).|Polyphosphoinositide binding (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CAGAGGCGACACCCCCCTGCTT	0.515													11	380	---	---	---	---					
LRIG3	121227	broad.mit.edu	37	12	59282620	59282621	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:59282620_59282621insC	ENST00000320743.3	-	6	1069_1070	c.783_784insG	c.(781-786)ggtgagfs	p.E262fs	LRIG3_ENST00000379141.4_Frame_Shift_Ins_p.E202fs	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	262						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ATGTTGCTCAGCCCCCAAAAAG	0.411			T	ROS1	NSCLC								7	361	---	---	---	---					
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:69233089_69233090insC	ENST00000462284.1	+	11	1256_1257	c.954_955insC	c.(952-957)aaccccfs	p.NP318fs	MDM2_ENST00000517852.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs	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"""								16	416	---	---	---	---					
BEST3	144453	broad.mit.edu	37	12	70049143	70049144	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:70049143_70049144insC	ENST00000330891.5	-	10	1776_1777	c.1550_1551insG	c.(1549-1551)gtafs	p.V517fs	BEST3_ENST00000488961.1_Frame_Shift_Ins_p.V304fs|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Frame_Shift_Ins_p.V411fs	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	517						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)			CATGGTGGTAGCCCCCTGATGT	0.559													7	2362	---	---	---	---					
TMCC3	57458	broad.mit.edu	37	12	94976257	94976258	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:94976257_94976258insC	ENST00000261226.4	-	2	266_267	c.135_136insG	c.(133-138)ggcagafs	p.R46fs	TMCC3_ENST00000551457.1_Frame_Shift_Ins_p.R15fs	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	46						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TTGGTGTCTGACCCCCCTCGGC	0.460													8	723	---	---	---	---					
C12orf42	374470	broad.mit.edu	37	12	103695959	103695960	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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	279	---	---	---	---					
TMEM119	338773	broad.mit.edu	37	12	108985919	108985920	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:108985919_108985920insG	ENST00000392806.3	-	2	408_409	c.240_241insC	c.(238-243)ccccaafs	p.Q81fs		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	81						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						AGGAAGTTGGTGGGGGGTGATG	0.653													9	187	---	---	---	---					
ACACB	32	broad.mit.edu	37	12	109634893	109634894	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:109634893_109634894insG	ENST00000338432.7	+	17	2681_2682	c.2562_2563insG	c.(2560-2565)gaggggfs	p.EG854fs	ACACB_ENST00000377848.3_Frame_Shift_Ins_p.EG854fs|ACACB_ENST00000377854.5_Frame_Shift_Ins_p.EG854fs			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	854					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGCTGAATGATGGGGGGCTCCT	0.589													7	253	---	---	---	---					
UBE3B	89910	broad.mit.edu	37	12	109927823	109927824	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:109927823_109927824insC	ENST00000537063.1	+	8	881_882	c.644_645insC	c.(643-645)tccfs	p.S215fs	UBE3B_ENST00000340074.5_Intron|UBE3B_ENST00000540230.1_Intron|UBE3B_ENST00000342494.3_Intron|UBE3B_ENST00000536398.1_Intron|UBE3B_ENST00000280774.5_Intron|UBE3B_ENST00000434735.2_Intron			Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	0					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						TGTGACTCCTGCCCCCCAGTGT	0.465													18	1169	---	---	---	---					
MYL2	4633	broad.mit.edu	37	12	111348950	111348951	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:111348950_111348951insG	ENST00000228841.8	-	7	478_479	c.431_432insC	c.(430-432)cgafs	p.R144fs	MYL2_ENST00000548438.1_Frame_Shift_Ins_p.R130fs	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	144	EF-hand 3.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						CAGTCACGTCAGGGGGGAAGGC	0.624													14	1253	---	---	---	---					
BRAP	8315	broad.mit.edu	37	12	112082051	112082052	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:112082051_112082052insC	ENST00000419234.4	-	12	1923_1924	c.1730_1731insG	c.(1729-1731)gagfs	p.E577fs	BRAP_ENST00000327551.6_Frame_Shift_Ins_p.E547fs|BRAP_ENST00000539060.1_Frame_Shift_Ins_p.E398fs	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	577					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						ACTTCCCACTGCCCCCCGAAGA	0.604													17	483	---	---	---	---					
ACAD10	80724	broad.mit.edu	37	12	112130538	112130539	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:112130538_112130539insC	ENST00000455480.2	+	2	202_203	c.25_26insC	c.(25-27)cccfs	p.P9fs	ACAD10_ENST00000549590.1_Frame_Shift_Ins_p.P9fs|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000313698.4_Frame_Shift_Ins_p.P9fs	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	9							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	p.S9F(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CTGTTTCCAGTCCCCCCGTCTC	0.619													8	980	---	---	---	---					
HECTD4	283450	broad.mit.edu	37	12	112630421	112630422	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:112630421_112630422insG	ENST00000550722.1	-	59	9191_9192	c.8796_8797insC	c.(8794-8799)ccccgcfs	p.R2933fs	HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.R2657fs|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.R2907fs	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TGGTCAGCGGTGGGGGGAGGTG	0.604													7	436	---	---	---	---					
SLC8B1	80024	broad.mit.edu	37	12	113758305	113758306	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:113758305_113758306insG	ENST00000552014.1	-	8	1042		c.e8-2		SLC24A6_ENST00000546737.1_Intron|SLC24A6_ENST00000553238.1_Intron|SLC24A6_ENST00000202831.3_Splice_Site			Q6J4K2	NCKX6_HUMAN							response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CGCCAGCGCCTGGGGGGAGGAG	0.644													31	1209	---	---	---	---					
KSR2	283455	broad.mit.edu	37	12	118199247	118199248	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:118199247_118199248insG	ENST00000425217.1	-	4	521_522	c.467_468insC	c.(466-468)cgafs	p.R156fs	KSR2_ENST00000339824.5_Frame_Shift_Ins_p.R185fs	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	185					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGTGGGCTCCGGGGGGCACAC	0.634													14	406	---	---	---	---					
CIT	11113	broad.mit.edu	37	12	120214207	120214208	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:120214207_120214208insA	ENST00000392521.2	-	15	1896_1897	c.1841_1842insT	c.(1840-1842)agafs	p.R614fs	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Frame_Shift_Ins_p.R614fs	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	614					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCCCTTGATCCTTAGCCTGTAA	0.356													155	656	---	---	---	---					
RNF34	80196	broad.mit.edu	37	12	121855615	121855616	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:121855615_121855616insT	ENST00000361234.5	+	3	706_707	c.534_535insT	c.(532-537)tcttttfs	p.SF178fs	RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392464.2_Frame_Shift_Ins_p.SF178fs|RNF34_ENST00000392465.3_Frame_Shift_Ins_p.SF179fs	NM_025126.3	NP_079402.2	Q969K3	RNF34_HUMAN	ring finger protein 34, E3 ubiquitin protein ligase	178					apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding			breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		TTACACGTTCGTTTTTTTCAAA	0.470													14	1333	---	---	---	---					
VPS33A	65082	broad.mit.edu	37	12	122720396	122720397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:122720396_122720397insC	ENST00000267199.4	-	11	1488_1489	c.1376_1377insG	c.(1375-1377)gagfs	p.E459fs	RP11-512M8.5_ENST00000535844.1_Frame_Shift_Ins_p.E420fs	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	459					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AATTGTTTCTGCCCCCCGTCTG	0.495													13	443	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132466645	132466646	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:132466645_132466646insC	ENST00000333577.4	+	6	1768_1769	c.1659_1660insC	c.(1657-1662)atccccfs	p.IP553fs	EP400_ENST00000389561.2_Frame_Shift_Ins_p.IP517fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.IP480fs|EP400_ENST00000389562.2_Frame_Shift_Ins_p.IP516fs|EP400_ENST00000330386.6_Frame_Shift_Ins_p.IP517fs			Q96L91	EP400_HUMAN	E1A binding protein p400	553					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGGAGGAATGCCCCCCACGCC	0.589													32	2172	---	---	---	---					
PXMP2	5827	broad.mit.edu	37	12	133277869	133277870	+	Frame_Shift_Ins	INS	-	-	G	rs141115887	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:133277869_133277870insG	ENST00000545677.1	+	3	250_251	c.47_48insG	c.(46-48)gggfs	p.G16fs	RP13-672B3.2_ENST00000537262.1_Frame_Shift_Ins_p.G16fs|PXMP2_ENST00000317479.3_Frame_Shift_Ins_p.G145fs|PXMP2_ENST00000428960.2_Frame_Shift_Ins_p.G52fs|PXMP2_ENST00000543589.1_Intron|PXMP2_ENST00000539093.1_Frame_Shift_Ins_p.G16fs			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													17	562	---	---	---	---					
TUBA3C	7278	broad.mit.edu	37	13	19751158	19751159	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:19751158_19751159insC	ENST00000400113.3	-	4	1068_1069	c.964_965insG	c.(964-966)tgtfs	p.C322fs		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	322					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CGGGACCACATCCCCCCTGTAC	0.550													11	1037	---	---	---	---					
LINC00621	100996930	broad.mit.edu	37	13	23471486	23471486	+	RNA	DEL	T	T	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:23471486delT	ENST00000577004.1	-	0	652																											CTTGTCACTCTTTCATGGCTA	0.532													2	4	---	---	---	---					
ANKRD20A19P	400110	broad.mit.edu	37	13	24515467	24515468	+	RNA	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:24515467_24515468insT	ENST00000442969.1	-	0	1288_1289																											TGGGAAAGCAGTTTTTTTGCCA	0.411													7	351	---	---	---	---					
RNF6	6049	broad.mit.edu	37	13	26788240	26788241	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:26788240_26788241insA	ENST00000381588.4	-	5	2530_2531	c.1778_1779insT	c.(1777-1779)tctfs	p.S593fs	RNF6_ENST00000468480.1_Intron|RNF6_ENST00000399762.2_Frame_Shift_Ins_p.S237fs|RNF6_ENST00000346166.3_Frame_Shift_Ins_p.S593fs|RNF6_ENST00000381570.3_Frame_Shift_Ins_p.S593fs	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	593					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TTTCATTTAGTAAAAAAAAGTG	0.406													7	277	---	---	---	---					
FRY	10129	broad.mit.edu	37	13	32799963	32799964	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:32799963_32799964insA	ENST00000380250.3	+	39	5554_5555	c.5058_5059insA	c.(5056-5061)agaaaafs	p.RK1686fs		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1686					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTGAACACAGCAAAAAACTGCT	0.441													7	1027	---	---	---	---					
CCNA1	8900	broad.mit.edu	37	13	37011855	37011856	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:37011855_37011856insC	ENST00000418263.1	+	3	734_735	c.384_385insC	c.(382-387)gaccccfs	p.DP128fs	CCNA1_ENST00000449823.1_Frame_Shift_Ins_p.DP85fs|CCNA1_ENST00000440264.1_Frame_Shift_Ins_p.DP85fs|CCNA1_ENST00000255465.4_Frame_Shift_Ins_p.DP129fs	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	129					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GGGTCCAAGAGCCCCCCAAGCA	0.505													12	437	---	---	---	---					
CPB2	1361	broad.mit.edu	37	13	46658415	46658416	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:46658415_46658416insA	ENST00000181383.4	-	3	229_230	c.213_214insT	c.(211-216)tttaaafs	p.K72fs	CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Frame_Shift_Ins_p.K72fs|CPB2-AS1_ENST00000606351.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	72					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)		GATGCATTTACAAAAAAATGGA	0.361													7	612	---	---	---	---					
ALG11	440138	broad.mit.edu	37	13	52602503	52602504	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:52602503_52602504insG	ENST00000521508.1	+	4	1261_1262	c.1256_1257insG	c.(1255-1257)tggfs	p.W419fs	ALG11_ENST00000519151.1_3'UTR|ALG11_ENST00000523764.1_Frame_Shift_Ins_p.LG31fs|UTP14C_ENST00000521776.2_5'UTR	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	469	---	---	---	---					
NEK3	4752	broad.mit.edu	37	13	52718828	52718829	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:52718828_52718829insG	ENST00000400357.2	-	8	2094_2095	c.801_802insC	c.(799-804)ccagatfs	p.D268fs	NEK3_ENST00000339406.3_Frame_Shift_Ins_p.D268fs|NEK3_ENST00000452082.2_Frame_Shift_Ins_p.D289fs|NEK3_ENST00000378101.2_Frame_Shift_Ins_p.D268fs			P51956	NEK3_HUMAN	NIMA-related kinase 3	268	Interaction with VAV2.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		GATCATACCTCGGGGGGTAAGC	0.431													7	493	---	---	---	---					
LECT1	11061	broad.mit.edu	37	13	53277829	53277830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:53277829_53277830insC	ENST00000448904.2	-	7	1012_1013	c.902_903insG	c.(901-903)gtafs	p.V301fs	LECT1_ENST00000377962.3_Frame_Shift_Ins_p.V302fs	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	302					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		ATGGGTAATAGCCCCCCAGGGG	0.525													9	177	---	---	---	---					
PCDH8	5100	broad.mit.edu	37	13	53421153	53421153	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:53421153delG	ENST00000377942.3	-	1	1622	c.1419delC	c.(1417-1419)ggfs	p.G473fs	PCDH8_ENST00000338862.4_Frame_Shift_Del_p.G473fs	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	473	Cadherin 4.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCGGGGGCGCGCCGCGATCCT	0.706													4	8	---	---	---	---					
LINC00459	100874180	broad.mit.edu	37	13	62902515	62902516	+	RNA	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:62902515_62902516insA	ENST00000431656.1	+	0	298																											GCTGTGCAGAGAAAAAAATCAA	0.381													3	6	---	---	---	---					
LMO7	4008	broad.mit.edu	37	13	76375005	76375006	+	Frame_Shift_Ins	INS	-	-	G	rs74596180	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:76375005_76375006insG	ENST00000357063.3	+	8	2064_2065	c.804_805insG	c.(802-807)agggggfs	p.RG268fs	LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000526202.1_Frame_Shift_Ins_p.RG177fs|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000377534.3_Frame_Shift_Ins_p.RG268fs|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000341547.4_Frame_Shift_Ins_p.RG268fs			Q8WWI1	LMO7_HUMAN	LIM domain 7	268						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TCACGTTGAGAGGGGGGCGTGA	0.450													13	659	---	---	---	---					
SLITRK5	26050	broad.mit.edu	37	13	88327657	88327658	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:88327657_88327658insC	ENST00000325089.6	+	2	233_234	c.14_15insC	c.(13-15)tccfs	p.S5fs	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	5						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CACACTTGCTGCCCCCCAGTAA	0.436													7	426	---	---	---	---					
OXGR1	27199	broad.mit.edu	37	13	97639249	97639250	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:97639249_97639250insA	ENST00000298440.1	-	4	1007_1008	c.764_765insT	c.(763-765)tccfs	p.S255fs	OXGR1_ENST00000543457.1_Frame_Shift_Ins_p.S255fs	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	255						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TATGGAAGGGTAAAAAACATAC	0.441													8	356	---	---	---	---					
OR4N5	390437	broad.mit.edu	37	14	20612063	20612064	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:20612063_20612064insC	ENST00000333629.1	+	1	169_170	c.169_170insC	c.(169-171)cccfs	p.P57fs		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGGGCTCACAGCCCCCCTCTAT	0.460													18	892	---	---	---	---					
OR11H6	122748	broad.mit.edu	37	14	20692231	20692232	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:20692231_20692232insT	ENST00000315519.2	+	1	441_442	c.363_364insT	c.(361-366)ttttttfs	p.FF121fs		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S124fs*31(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		AATTCTATTTCTTTTTTTCACT	0.421													9	739	---	---	---	---					
ARHGEF40	55701	broad.mit.edu	37	14	21546603	21546604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:21546603_21546604insG	ENST00000298694.4	+	10	2329_2330	c.2202_2203insG	c.(2200-2205)gaggggfs	p.EG734fs	ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.EG734fs			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	734					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TGCAGAGGGATGGGGGGGCCAT	0.629													14	287	---	---	---	---					
ARHGEF40	55701	broad.mit.edu	37	14	21556191	21556192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:21556191_21556192insC	ENST00000298694.4	+	22	4579_4580	c.4452_4453insC	c.(4450-4455)caccccfs	p.HP1484fs	ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.HP1436fs			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1484					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CCAGCCTGCAACCCCCCCACCC	0.574													10	227	---	---	---	---					
OR10G2	26534	broad.mit.edu	37	14	22102924	22102925	+	Frame_Shift_Ins	INS	-	-	G	rs150140072		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:22102924_22102925insG	ENST00000542433.1	-	1	171_172	c.74_75insC	c.(73-75)caafs	p.Q25fs		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TTCTTAGATTTGGGGGGTGAGA	0.480													13	522	---	---	---	---					
TRAV3	28690	broad.mit.edu	37	14	22192097	22192098	+	RNA	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:22192097_22192098insC	ENST00000390425.2	+	0	138_139																											GCTGGAAAGGACCCCCCCAATC	0.574													10	268	---	---	---	---					
CDH24	64403	broad.mit.edu	37	14	23523784	23523785	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:23523784_23523785insC	ENST00000397359.3	-	5	973_974	c.714_715insG	c.(712-717)ggtgtcfs	p.V239fs	CDH24_ENST00000554034.1_Frame_Shift_Ins_p.V239fs|CDH24_ENST00000267383.5_Frame_Shift_Ins_p.V239fs|CDH24_ENST00000487137.2_Frame_Shift_Ins_p.V239fs	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	239	Cadherin 2.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CTGCCTGACAGCCCCCCCATGT	0.609											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	200	---	---	---	---					
ACIN1	22985	broad.mit.edu	37	14	23549377	23549378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:23549377_23549378insG	ENST00000262710.1	-	6	1667_1668	c.1340_1341insC	c.(1339-1341)ggtfs	p.G447fs	ACIN1_ENST00000555053.1_Frame_Shift_Ins_p.G447fs|ACIN1_ENST00000457657.1_Frame_Shift_Ins_p.G407fs|ACIN1_ENST00000605057.1_Frame_Shift_Ins_p.G389fs	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													42	978	---	---	---	---					
HOMEZ	57594	broad.mit.edu	37	14	23745309	23745310	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:23745309_23745310insA	ENST00000357460.5	-	2	1291_1292	c.1127_1128insT	c.(1126-1128)tcafs	p.S376fs	HOMEZ_ENST00000561013.1_Frame_Shift_Ins_p.S378fs|HOMEZ_ENST00000431326.2_Frame_Shift_Ins_p.S378fs	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	376						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L376fs*14(1)		endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ACTGGCACTGTAAAAAAAAGGA	0.490													8	413	---	---	---	---					
IPO4	79711	broad.mit.edu	37	14	24655355	24655356	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:24655355_24655356insG	ENST00000354464.6	-	11	1214_1215	c.1038_1039insC	c.(1036-1041)ccagaafs	p.E347fs	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	347					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CAGAGCTTCTCGGGGGGCAGGT	0.589													21	865	---	---	---	---					
NEDD8	4738	broad.mit.edu	37	14	24687374	24687375	+	Frame_Shift_Ins	INS	-	-	G	rs74744808		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:24687374_24687375insG	ENST00000250495.5	-	3	299_300	c.113_114insC	c.(112-114)ccafs	p.P38fs	NEDD8_ENST00000524927.1_Frame_Shift_Ins_p.P38fs|NEDD8-MDP1_ENST00000604306.1_5'UTR|NEDD8-MDP1_ENST00000534348.1_Frame_Shift_Ins_p.P38fs	NM_006156.2	NP_006147.1			neural precursor cell expressed, developmentally down-regulated 8											breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5				GBM - Glioblastoma multiforme(265;0.0186)		TCTGCTGTTGTGGGGGGATTCC	0.525													9	636	---	---	---	---					
AKAP6	9472	broad.mit.edu	37	14	32902724	32902725	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:32902724_32902725insC	ENST00000280979.4	+	2	195_196	c.25_26insC	c.(25-27)cccfs	p.P9fs	AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557354.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000557272.1_Frame_Shift_Ins_p.P9fs	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	9					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CGTGACACTTTCCCCCCTGAGG	0.505													8	556	---	---	---	---					
NID2	22795	broad.mit.edu	37	14	52481918	52481919	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:52481918_52481919insG	ENST00000216286.5	-	15	3102_3103	c.3103_3104insC	c.(3103-3105)ggafs	p.G1035fs	NID2_ENST00000541773.1_Frame_Shift_Ins_p.G934fs	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1035	Thyroglobulin type-1 2.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTGGTCATCCCGGGGGGTGCCA	0.624													8	293	---	---	---	---					
SAMD4A	23034	broad.mit.edu	37	14	55203891	55203892	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:55203891_55203892insC	ENST00000392067.3	+	3	865_866	c.865_866insC	c.(865-867)cccfs	p.P289fs	SAMD4A_ENST00000554335.1_Frame_Shift_Ins_p.P289fs|SAMD4A_ENST00000357634.3_Frame_Shift_Ins_p.P288fs|SAMD4A_ENST00000251091.5_Intron	NM_015589.5	NP_056404.4	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	289					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						ATCCGATCATGCCCCCCTGTCT	0.525													10	1497	---	---	---	---					
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:63174302_63174303insG	ENST00000322893.7	-	11	3158_3159	c.2890_2891insC	c.(2890-2892)gatfs	p.D964fs	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	964					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATGGTATCTGGGGGGGTACT	0.391													20	386	---	---	---	---					
PLEKHH1	57475	broad.mit.edu	37	14	68053849	68053850	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:68053849_68053850insC	ENST00000329153.5	+	29	4124_4125	c.3992_3993insC	c.(3991-3993)accfs	p.T1331fs	PLEKHH1_ENST00000417684.2_Frame_Shift_Ins_p.DP272fs	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	1331	FERM.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ACAACTGTGAACCCCCCCACCA	0.515													8	106	---	---	---	---					
SIPA1L1	26037	broad.mit.edu	37	14	72165808	72165809	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:72165808_72165809insG	ENST00000555818.1	+	11	3833_3834	c.3485_3486insG	c.(3484-3486)gggfs	p.G1162fs	SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.G1162fs|SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.G1162fs|SIPA1L1_ENST00000537413.1_Frame_Shift_Ins_p.G637fs	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1162					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACTGGTTCTGTGGGGGGCACTT	0.495													8	371	---	---	---	---					
LTBP2	4053	broad.mit.edu	37	14	74972756	74972757	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:74972756_74972757insC	ENST00000261978.4	-	28	4557_4558	c.4171_4172insG	c.(4171-4173)tggfs	p.W1391fs	LTBP2_ENST00000556690.1_Frame_Shift_Ins_p.W1347fs	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1391					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)		CTCACCTCCAGCCCCCCGTGGG	0.634													10	697	---	---	---	---					
YLPM1	56252	broad.mit.edu	37	14	75248345	75248346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:75248345_75248346insC	ENST00000325680.7	+	4	1723_1724	c.1599_1600insC	c.(1597-1602)atccccfs	p.IP533fs	YLPM1_ENST00000552421.1_Frame_Shift_Ins_p.IP533fs|YLPM1_ENST00000238571.3_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TACCTACAATGCCCCCTCCAGT	0.530													9	1025	---	---	---	---					
TSHR	7253	broad.mit.edu	37	14	81610152	81610153	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:81610152_81610153insT	ENST00000541158.2	+	11	2072_2073	c.1750_1751insT	c.(1750-1752)tttfs	p.F584fs	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Frame_Shift_Ins_p.F584fs			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	584					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GGCATATATTGTTTTTGTTCTG	0.500			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						7	1505	---	---	---	---					
FOXN3	1112	broad.mit.edu	37	14	89628892	89628893	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:89628892_89628893insG	ENST00000345097.4	-	7	1454_1455	c.1338_1339insC	c.(1336-1341)ccagagfs	p.E447fs	FOXN3_ENST00000557258.1_Frame_Shift_Ins_p.E425fs|FOXN3_ENST00000555353.1_Frame_Shift_Ins_p.E425fs|FOXN3_ENST00000261302.5_Frame_Shift_Ins_p.E447fs	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	447					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus 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			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCATCGCTCTCGGGGGGCTTTT	0.584													8	108	---	---	---	---					
CCDC88C	440193	broad.mit.edu	37	14	91739545	91739546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:91739545_91739546insC	ENST00000389857.6	-	30	5596_5597	c.5510_5511insG	c.(5509-5511)gagfs	p.E1837fs	CCDC88C_ENST00000331194.7_Frame_Shift_Ins_p.E361fs	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1837					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTGTCTCTCTGCCCCCTAAGGC	0.683													2	4	---	---	---	---					
SERPINA1	5265	broad.mit.edu	37	14	94844884	94844885	+	Frame_Shift_Ins	INS	-	-	G	rs143329723	by1000genomes	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:94844884_94844885insG	ENST00000448921.1	-	7	1730_1731	c.1158_1159insC	c.(1156-1161)ccaggtfs	p.G387fs	SERPINA1_ENST00000449399.3_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000404814.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000440909.1_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000437397.1_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000393087.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000355814.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000393088.4_Frame_Shift_Ins_p.G387fs	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	387	RCL.		E -> K (in Christchurch).		acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	AACTTGACCTCGGGGGGGATAG	0.490													7	301	---	---	---	---					
ATG2B	55102	broad.mit.edu	37	14	96798913	96798914	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:96798913_96798914insG	ENST00000359933.4	-	9	2179_2180	c.1286_1287insC	c.(1285-1287)caafs	p.Q429fs		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	429										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GGTCCATGTTTGGGGGGTCCCC	0.396													7	174	---	---	---	---					
CDC42BPB	9578	broad.mit.edu	37	14	103416894	103416895	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:103416894_103416895insG	ENST00000361246.2	-	25	3505_3506	c.3217_3218insC	c.(3217-3219)ggtfs	p.G1073fs		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1073					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGGGCACACCTGGGGGGCACCG	0.584													8	560	---	---	---	---					
IGHG3	3502	broad.mit.edu	37	14	106236280	106236281	+	RNA	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:106236280_106236281insG	ENST00000390551.2	-	0	522_523																											CCTTGGGTTTTGGGGGGAAGAG	0.594													7	413	---	---	---	---					
OR4N4	283694	broad.mit.edu	37	15	22382641	22382642	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:22382641_22382642insC	ENST00000328795.4	+	1	260_261	c.169_170insC	c.(169-171)cccfs	p.P57fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		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)		TGGGCTCACAGCCCCCCTCTAT	0.460													8	608	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25310192	25310193	+	RNA	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:25310192_25310193insA	ENST00000549804.2	+	0	538				SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA																							ATGAGTCCTCCAAAAAAAACAT	0.475													10	656	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25315598	25315599	+	RNA	INS	-	-	A	rs149955138	by1000genomes	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:25315598_25315599insA	ENST00000549804.2	+	0	678				SNHG14_ENST00000551077.1_RNA|SNORD116-8_ENST00000384365.1_RNA																							ATGAGTCCTCCAAAAAAACATT	0.490													9	677	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25342826	25342827	+	RNA	INS	-	-	AAAA			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:25342826_25342827insAAAA	ENST00000546682.1	+	0	1229				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-25_ENST00000516517.1_RNA	NR_003361.1																						ATGATGACTTTAAAATGGATCT	0.485													12	411	---	---	---	---					
TRPM1	4308	broad.mit.edu	37	15	31355449	31355450	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:31355449_31355450insC	ENST00000542188.1	-	7	1200_1201	c.887_888insG	c.(886-888)gccfs	p.A296fs	TRPM1_ENST00000256552.6_Frame_Shift_Ins_p.A279fs|TRPM1_ENST00000397795.2_Frame_Shift_Ins_p.A257fs	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	257					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCACGTTAGGGCCCCCCTCCAC	0.614													8	556	---	---	---	---					
ARHGAP11A	9824	broad.mit.edu	37	15	32928531	32928531	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:32928531delG	ENST00000361627.3	+	12	2279	c.1557delG	c.(1555-1557)atfs	p.M519fs	ARHGAP11A_ENST00000543522.1_Frame_Shift_Del_p.M330fs|ARHGAP11A_ENST00000565905.1_Frame_Shift_Del_p.M330fs	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	519					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		ATTACCGGATGTCTTGGACAG	0.383													29	53	---	---	---	---					
RYR3	6263	broad.mit.edu	37	15	34015000	34015001	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:34015000_34015001insG	ENST00000389232.4	+	44	6774_6775	c.6704_6705insG	c.(6703-6705)gggfs	p.G2235fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.G2235fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2235	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGCGGGGTGAGGGGGGAAACG	0.584													9	1106	---	---	---	---					
RYR3	6263	broad.mit.edu	37	15	34078053	34078054	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:34078053_34078054insC	ENST00000389232.4	+	66	9529_9530	c.9459_9460insC	c.(9457-9462)ctccccfs	p.LP3153fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.LP3153fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3153					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGAGAACCTGCCCCCCAGCAC	0.564													9	549	---	---	---	---					
BMF	90427	broad.mit.edu	37	15	40396470	40396471	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:40396470_40396471insG	ENST00000354670.4	-	4	597_598	c.363_364insC	c.(361-366)ccaaggfs	p.R122fs	BMF_ENST00000561360.1_Frame_Shift_Ins_p.R122fs|BMF_ENST00000561282.1_Frame_Shift_Ins_p.R122fs|BMF_ENST00000558774.1_Intron|BMF_ENST00000431415.3_Frame_Shift_Ins_p.R122fs|BMF_ENST00000559701.1_Intron|BMF_ENST00000220446.4_Intron|BMF_ENST00000397573.1_Frame_Shift_Ins_p.R122fs	NM_001003940.1	NP_001003940.1	Q96LC9	BMF_HUMAN	Bcl2 modifying factor	122					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|mitochondrial outer membrane|myosin complex|plasma membrane	protein binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		CACTGCCCTTCGGGGGGCTGCT	0.569													18	2043	---	---	---	---					
C15orf52	388115	broad.mit.edu	37	15	40630771	40630772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:40630771_40630772insG	ENST00000559313.1	-	5	624_625	c.609_610insC	c.(607-612)cccgcafs	p.A204fs		NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	204										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCCACCTGCGTGGGGGGGCTTC	0.584											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	617	---	---	---	---					
IVD	3712	broad.mit.edu	37	15	40707167	40707168	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:40707167_40707168insG	ENST00000249760.2	+	8	1207_1208	c.864_865insG	c.(862-867)gcggggfs	p.AG288fs	IVD_ENST00000487418.2_Frame_Shift_Ins_p.AG291fs|IVD_ENST00000479013.2_Frame_Shift_Ins_p.AG261fs	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	288					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		TGGTGCTGGCCGGGGGGCCTCT	0.629													12	457	---	---	---	---					
EHD4	30844	broad.mit.edu	37	15	42192889	42192890	+	Frame_Shift_Ins	INS	-	-	G	rs145578237		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:42192889_42192890insG	ENST00000220325.4	-	6	1662_1663	c.1579_1580insC	c.(1579-1581)cctfs	p.P527fs		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	527	EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		GGGCACGAGGTGGGGGGGCAGG	0.673													14	189	---	---	---	---					
CAPN3	825	broad.mit.edu	37	15	42652164	42652165	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:42652164_42652165delTC	ENST00000397163.3	+	1	380_381	c.161_162delTC	c.(160-162)afs	p.I54fs	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000318023.7_Frame_Shift_Del_p.I54fs|CAPN3_ENST00000356316.3_Intron|CAPN3_ENST00000357568.3_Frame_Shift_Del_p.I54fs|CAPN3_ENST00000349748.3_Frame_Shift_Del_p.I54fs	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	54					muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TTTCCTATTATCGGAGTGAAAG	0.505													47	921	---	---	---	---					
CDAN1	146059	broad.mit.edu	37	15	43019889	43019890	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:43019889_43019890insC	ENST00000356231.3	-	23	3048_3049	c.3025_3026insG	c.(3025-3027)gcgfs	p.A1009fs		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	1009						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GCCCCTCCGCTCCCCCCGGGCA	0.634													8	164	---	---	---	---					
CDAN1	146059	broad.mit.edu	37	15	43021326	43021327	+	Splice_Site	INS	-	-	G	rs35158439		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:43021326_43021327insG	ENST00000356231.3	-	19	2565		c.e19-2			NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1							integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GAGCTGTGCCTGGGGGGAGGAG	0.629													9	476	---	---	---	---					
TMEM62	80021	broad.mit.edu	37	15	43473386	43473387	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:43473386_43473387insT	ENST00000260403.2	+	13	1773_1774	c.1494_1495insT	c.(1492-1497)tgttttfs	p.CF498fs	EPB42_ENST00000563128.1_Intron|TMEM62_ENST00000569369.1_3'UTR	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	498						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		TAGGTCCATGGTTTTTTGGTGA	0.327													10	481	---	---	---	---					
SORD	6652	broad.mit.edu	37	15	45353365	45353366	+	Frame_Shift_Ins	INS	-	-	C	rs11542063	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:45353365_45353366insC	ENST00000267814.9	+	4	546_547	c.366_367insC	c.(364-369)acccccfs	p.TP122fs	SORD_ENST00000558580.1_Frame_Shift_Ins_p.TP101fs	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	122					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)	TCTGTGCCACGCCCCCCGATGA	0.530													25	991	---	---	---	---					
DUOX1	53905	broad.mit.edu	37	15	45444222	45444223	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:45444222_45444223insG	ENST00000321429.4	+	25	3572_3573	c.3165_3166insG	c.(3163-3168)gcggggfs	p.AG1055fs	DUOX1_ENST00000561166.1_Frame_Shift_Ins_p.AG701fs|DUOX1_ENST00000389037.3_Frame_Shift_Ins_p.AG1055fs	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1055	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ACGCCATCGCTGGGGGGCTTTT	0.604													9	209	---	---	---	---					
DUOX1	53905	broad.mit.edu	37	15	45457005	45457006	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:45457005_45457006insC	ENST00000321429.4	+	35	4969_4970	c.4562_4563insC	c.(4561-4563)gccfs	p.A1521fs	DUOX1_ENST00000561166.1_Frame_Shift_Ins_p.A1167fs|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Frame_Shift_Ins_p.A1521fs	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1521					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	p.G1524fs*26(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TTTAGCTGTGGCCCCCCTGGCA	0.545													7	1202	---	---	---	---					
PRTG	283659	broad.mit.edu	37	15	55912218	55912219	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													11	367	---	---	---	---					
GTF2A2	2958	broad.mit.edu	37	15	59942953	59942954	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:59942953_59942954insG	ENST00000396060.2	-	3	272_273	c.91_92insC	c.(91-93)actfs	p.T31fs	GTF2A2_ENST00000396061.1_Frame_Shift_Ins_p.T31fs|GTF2A2_ENST00000396064.3_Frame_Shift_Ins_p.T31fs|AC092755.4_ENST00000441746.1_RNA|GTF2A2_ENST00000267869.4_Intron|GTF2A2_ENST00000484743.1_Intron|GTF2A2_ENST00000396063.1_Frame_Shift_Ins_p.T31fs	NM_004492.2	NP_004483.1	P52657	T2AG_HUMAN	general transcription factor IIA, 2, 12kDa	31					interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIA complex	protein heterodimerization activity|protein homodimerization activity|TBP-class protein binding|transcription coactivator activity			central_nervous_system(2)|kidney(2)|lung(1)	5						AAGGGCAAGTTGGGGGGTGATC	0.376													7	178	---	---	---	---					
PPIB	5479	broad.mit.edu	37	15	64454274	64454275	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:64454274_64454275insT	ENST00000300026.3	-	2	432_433	c.214_215insA	c.(214-216)agtfs	p.S72fs	PPIB_ENST00000558492.1_Intron	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	72	PPIase cyclophilin-type.				protein folding	endoplasmic reticulum lumen|melanosome	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	ATTATCCACTGTTTTTGGAACA	0.465													7	1442	---	---	---	---					
CILP	8483	broad.mit.edu	37	15	65489699	65489700	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:65489699_65489700insC	ENST00000261883.4	-	9	3090_3091	c.2924_2925insG	c.(2923-2925)gacfs	p.D975fs		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	975					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GCCGATGAGTGCCCCCCATGTT	0.569													11	796	---	---	---	---					
IGDCC4	57722	broad.mit.edu	37	15	65681239	65681240	+	Frame_Shift_Ins	INS	-	-	G	rs142796011		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:65681239_65681240insG	ENST00000352385.2	-	15	2822_2823	c.2613_2614insC	c.(2611-2616)cccagafs	p.R872fs		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	872	Fibronectin type-III 5.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TTGGGCTCTGTGGGGGGGCACC	0.663													11	240	---	---	---	---					
LCTL	197021	broad.mit.edu	37	15	66850185	66850186	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:66850185_66850186insC	ENST00000341509.5	-	8	927_928	c.796_797insG	c.(796-798)accfs	p.T266fs	LCTL_ENST00000537670.1_Frame_Shift_Ins_p.T93fs	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	266					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTCCACAGGTTCCCCCCAGTCA	0.525													9	376	---	---	---	---					
ITGA11	22801	broad.mit.edu	37	15	68617581	68617582	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:68617581_68617582insG	ENST00000423218.2	-	18	2307		c.e18-2		ITGA11_ENST00000315757.7_Splice_Site			Q9UKX5	ITA11_HUMAN	integrin, alpha 11						cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	AGCAGTGTCCTGGGGGGTGGAG	0.579													12	345	---	---	---	---					
LARP6	55323	broad.mit.edu	37	15	71125256	71125257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:71125256_71125257insG	ENST00000299213.8	-	3	680_681	c.610_611insC	c.(610-612)gaafs	p.E204fs		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	204					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						TCCATTCTTCTGGGGGGTGGCC	0.545													7	684	---	---	---	---					
STOML1	9399	broad.mit.edu	37	15	74281540	74281541	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:74281540_74281541insG	ENST00000316900.5	-	3	422_423	c.298_299insC	c.(298-300)gggfs	p.G100fs	STOML1_ENST00000359750.4_Frame_Shift_Ins_p.G100fs|STOML1_ENST00000564777.1_Intron|STOML1_ENST00000541638.1_Frame_Shift_Ins_p.G58fs|STOML1_ENST00000561656.1_Frame_Shift_Ins_p.G13fs|STOML1_ENST00000316911.6_Intron	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	100						integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GCCAGGTCCCTGGGGGGTGCGG	0.584													11	263	---	---	---	---					
MPI	4351	broad.mit.edu	37	15	75189523	75189524	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:75189523_75189524insC	ENST00000352410.4	+	7	1083_1084	c.1016_1017insC	c.(1015-1017)gccfs	p.A339fs	MPI_ENST00000323744.6_Frame_Shift_Ins_p.A278fs|MPI_ENST00000535694.1_Frame_Shift_Ins_p.A289fs|MPI_ENST00000566377.1_Intron|MPI_ENST00000563786.1_Frame_Shift_Ins_p.A319fs			P34949	MPI_HUMAN	mannose phosphate isomerase	339					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TCAATCTATGACCCCCCTGTAC	0.530													9	679	---	---	---	---					
SCAMP5	192683	broad.mit.edu	37	15	75311153	75311154	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:75311153_75311154insG	ENST00000361900.6	+	8	744_745	c.537_538insG	c.(535-540)agggggfs	p.RG179fs	SCAMP5_ENST00000425597.3_Frame_Shift_Ins_p.RG179fs|SCAMP5_ENST00000568081.1_Frame_Shift_Ins_p.RG112fs|SCAMP5_ENST00000545456.1_Frame_Shift_Ins_p.RG108fs|SCAMP5_ENST00000562212.1_Frame_Shift_Ins_p.RG187fs	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	179					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						ACCGGGGAAGTGGGGGGAGTTT	0.530													11	305	---	---	---	---					
SNX33	257364	broad.mit.edu	37	15	75942735	75942736	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:75942735_75942736insC	ENST00000308527.5	+	1	2489_2490	c.1292_1293insC	c.(1291-1293)gccfs	p.A431fs		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	431	BAR.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						TTCCAGATGGACCCCCCCTTTT	0.569													7	205	---	---	---	---					
ANKRD34C-AS1	729911	broad.mit.edu	37	15	79529452	79529453	+	RNA	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:79529452_79529453insG	ENST00000560533.1	-	0	349																											ATAATGAGGATGGGGGGATGAC	0.490													8	739	---	---	---	---					
ADAMTSL3	57188	broad.mit.edu	37	15	84592709	84592710	+	Frame_Shift_Ins	INS	-	-	AGCT			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:84592709_84592710insAGCT	ENST00000286744.5	+	17	2265_2266	c.2041_2042insAGCT	c.(2041-2043)tgafs	p.*681fs	ADAMTSL3_ENST00000567476.1_Frame_Shift_Ins_p.*681fs	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	681						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCAGACAGTCAATGACAGCTTG	0.490													7	390	---	---	---	---					
TICRR	90381	broad.mit.edu	37	15	90167669	90167670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:90167669_90167670insC	ENST00000268138.7	+	20	4233_4234	c.4128_4129insC	c.(4126-4131)ccccccfs	p.PP1376fs	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Frame_Shift_Ins_p.PP1375fs					TOPBP1-interacting checkpoint and replication regulator																		TCCCTCCTCCACCCCCTTCTAA	0.574													7	326	---	---	---	---					
TTLL13	440307	broad.mit.edu	37	15	90799090	90799091	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:90799090_90799091insC	ENST00000438251.1	+	5	811_812	c.521_522insC	c.(520-522)tccfs	p.S174fs	TTLL13_ENST00000339615.5_Frame_Shift_Ins_p.S174fs|RP11-697E2.6_ENST00000561573.1_Intron			A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	174	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			TACAACATCTTCCCCCGCACCT	0.559													9	1809	---	---	---	---					
TTLL13	440307	broad.mit.edu	37	15	90801328	90801329	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:90801328_90801329insG	ENST00000438251.1	+	9	1284_1285	c.994_995insG	c.(994-996)gggfs	p.G332fs	TTLL13_ENST00000339615.5_Frame_Shift_Ins_p.G332fs|RP11-697E2.6_ENST00000561573.1_Intron			A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	332	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			TGGAGAGCTGTGGGGGGACATC	0.535													17	1127	---	---	---	---					
VPS33B	26276	broad.mit.edu	37	15	91544628	91544629	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:91544628_91544629insT	ENST00000333371.3	-	19	1822_1823	c.1469_1470insA	c.(1468-1470)actfs	p.T490fs	VPS33B_ENST00000535843.1_Frame_Shift_Ins_p.T399fs|VPS33B_ENST00000535906.1_Frame_Shift_Ins_p.T463fs	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	490					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					CCAAATTCAGCTTTTTGCTGAT	0.416													7	605	---	---	---	---					
IGF1R	3480	broad.mit.edu	37	15	99251108	99251109	+	Frame_Shift_Ins	INS	-	-	G	rs121912426		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:99251108_99251109insG	ENST00000268035.6	+	2	1023_1024	c.412_413insG	c.(412-414)gggfs	p.G138fs	IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.G138fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	138			R -> Q (in IGF1RES; has decreased IGF1R function).		anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GAACATTACTCGGGGGGCCATC	0.510													18	399	---	---	---	---					
ALDH1A3	220	broad.mit.edu	37	15	101438349	101438350	+	Frame_Shift_Ins	INS	-	-	G	rs142377552	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:101438349_101438350insG	ENST00000329841.5	+	8	1374_1375	c.842_843insG	c.(841-843)cggfs	p.R281fs	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Frame_Shift_Ins_p.R174fs	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	281					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	ACGCTGGAGCTGGGGGGGAAGA	0.569													10	169	---	---	---	---					
CHSY1	22856	broad.mit.edu	37	15	101775436	101775437	+	Frame_Shift_Ins	INS	-	-	C	rs74545602	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:101775436_101775437insC	ENST00000254190.3	-	2	1141_1142	c.666_667insG	c.(664-669)ggctggfs	p.W223fs		NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	223					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATCACGCCAGGCCCCCCCATGC	0.614													14	312	---	---	---	---					
MMP25	64386	broad.mit.edu	37	16	3100449	3100450	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:3100449_3100450insG	ENST00000336577.4	+	4	800_801	c.563_564insG	c.(562-564)tggfs	p.W188fs	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	188					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						TTCGACGGGTTGGGGGGCACCC	0.604													12	270	---	---	---	---					
CREBBP	1387	broad.mit.edu	37	16	3828056	3828057	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:3828056_3828057insC	ENST00000262367.5	-	10	2877_2878	c.2068_2069insG	c.(2068-2070)tcafs	p.S690fs	CREBBP_ENST00000382070.3_Frame_Shift_Ins_p.S652fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	690					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGGGGGCTGAGCCCCCGGGGCT	0.485			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						8	318	---	---	---	---					
CORO7	79585	broad.mit.edu	37	16	4407245	4407246	+	Frame_Shift_Ins	INS	-	-	G	rs145777624	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:4407245_4407246insG	ENST00000251166.4	-	26	2753_2754	c.2608_2609insC	c.(2608-2610)agafs	p.R870fs	CORO7_ENST00000574025.1_Frame_Shift_Ins_p.R785fs|CORO7-PAM16_ENST00000572467.1_Frame_Shift_Ins_p.R870fs|CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7_ENST00000539968.1_Frame_Shift_Ins_p.R650fs|CORO7_ENST00000537233.2_Frame_Shift_Ins_p.R852fs	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						AGGGGCCTCTCGGGGGGCTTGG	0.579													8	246	---	---	---	---					
EMP2	2013	broad.mit.edu	37	16	10637490	10637491	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:10637490_10637491insA	ENST00000359543.3	-	3	314_315	c.105_106insT	c.(103-108)ttcagafs	p.R36fs	EMP2_ENST00000536829.1_Frame_Shift_Ins_p.R36fs	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2	36					cell proliferation	integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						CAGACATCTGCAAAAAACTCAT	0.441													12	856	---	---	---	---					
CLEC16A	23274	broad.mit.edu	37	16	11220012	11220013	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:11220012_11220013insC	ENST00000409552.3	+	21	2733_2734	c.2596_2597insC	c.(2596-2598)cccfs	p.P866fs	CLEC16A_ENST00000409790.1_Intron|CLEC16A_ENST00000381822.2_Intron	NM_001243403.1	NP_001230332.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	0								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGGTGAGCCAGCCCCCCGCCCT	0.649													7	314	---	---	---	---					
MKL2	57496	broad.mit.edu	37	16	14346299	14346300	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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_ENST00000574045.1_Frame_Shift_Ins_p.DP831fs|MKL2_ENST00000318282.5_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													10	182	---	---	---	---					
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													32	3326	---	---	---	---					
ABCC1	4363	broad.mit.edu	37	16	16142119	16142120	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:16142119_16142120insC	ENST00000399408.2	+	10	1514_1515	c.1339_1340insC	c.(1339-1341)cccfs	p.P447fs	ABCC1_ENST00000349029.5_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000345148.5_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000399410.3_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000351154.5_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000346370.5_Frame_Shift_Ins_p.P447fs			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	447	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GATCTGGTCAGCCCCCCTGCAA	0.545													8	827	---	---	---	---					
C16orf62	57020	broad.mit.edu	37	16	19644487	19644488	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:19644487_19644488insC	ENST00000438132.3	+	19	1943_1944	c.1895_1896insC	c.(1894-1896)tccfs	p.S632fs	C16orf62_ENST00000543152.1_Frame_Shift_Ins_p.S292fs|C16orf62_ENST00000542263.1_Frame_Shift_Ins_p.S565fs|C16orf62_ENST00000448695.1_Frame_Shift_Ins_p.S393fs|C16orf62_ENST00000251143.5_Frame_Shift_Ins_p.S543fs|C16orf62_ENST00000417362.2_Frame_Shift_Ins_p.S476fs	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	543						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GAAGATTCCTACCCCCAGGTAA	0.411													12	2278	---	---	---	---					
ACSM2B	348158	broad.mit.edu	37	16	20556547	20556548	+	Frame_Shift_Ins	INS	-	-	G	rs146499503		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:20556547_20556548insG	ENST00000329697.6	-	10	1380_1381	c.1212_1213insC	c.(1210-1215)ccgcacfs	p.H405fs	ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_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													21	685	---	---	---	---					
ERN2	10595	broad.mit.edu	37	16	23718095	23718096	+	Frame_Shift_Ins	INS	-	-	G	rs143761786		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:23718095_23718096insG	ENST00000256797.4	-	6	778_779	c.610_611insC	c.(610-612)cctfs	p.P204fs	ERN2_ENST00000457008.2_Frame_Shift_Ins_p.P156fs	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	156					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AATGTAGAGGCGGGGGGTGGAG	0.604													9	603	---	---	---	---					
SH2B1	25970	broad.mit.edu	37	16	28883207	28883208	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:28883207_28883208insC	ENST00000337120.5	+	5	4707_4708	c.1416_1417insC	c.(1414-1419)ttccccfs	p.FP472fs	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Frame_Shift_Ins_p.FP136fs|SH2B1_ENST00000545570.1_Frame_Shift_Ins_p.FP162fs|SH2B1_ENST00000359285.5_Frame_Shift_Ins_p.FP472fs|SH2B1_ENST00000322610.8_Frame_Shift_Ins_p.FP472fs|SH2B1_ENST00000395532.4_Frame_Shift_Ins_p.FP472fs	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	472	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCCCAGAGTTGCCCCCCCGCAT	0.629													26	343	---	---	---	---					
SH2B1	25970	broad.mit.edu	37	16	28883306	28883306	+	Splice_Site	DEL	T	T	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:28883306delT	ENST00000337120.5	+	5	4804		c.e5+2		SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Splice_Site|SH2B1_ENST00000545570.1_Splice_Site|SH2B1_ENST00000359285.5_Splice_Site|SH2B1_ENST00000322610.8_Splice_Site|SH2B1_ENST00000395532.4_Splice_Site	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1						blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CAGCCACAGGTACCGGAGGTG	0.647													71	94	---	---	---	---					
ATP2A1	487	broad.mit.edu	37	16	28909713	28909714	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:28909713_28909714insC	ENST00000395503.4	+	14	1889_1890	c.1705_1706insC	c.(1705-1707)cccfs	p.P569fs	ATP2A1_ENST00000536376.1_Frame_Shift_Ins_p.P444fs|ATP2A1_ENST00000357084.3_Frame_Shift_Ins_p.P569fs	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	569					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CACCCGGGACACCCCCCCGAAG	0.639													42	550	---	---	---	---					
CTB-134H23.2	0	broad.mit.edu	37	16	29061994	29061995	+	Splice_Site	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:29061994_29061995insC	ENST00000424293.3	+	6	661_662	c.606_splice	c.e6-1	p.T203_splice																								CTTTTTCAGATCCCCCCTTCTG	0.450													7	197	---	---	---	---					
MVP	9961	broad.mit.edu	37	16	29842209	29842210	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:29842209_29842210insC	ENST00000357402.5	+	3	274_275	c.136_137insC	c.(136-138)cccfs	p.P46fs	MVP_ENST00000452209.2_Intron|MVP_ENST00000395353.1_Frame_Shift_Ins_p.P46fs|MVP_ENST00000566554.1_3'UTR	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	46					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						GGTACTGTTTGCCCCCATGCGC	0.574													7	319	---	---	---	---					
MVP	9961	broad.mit.edu	37	16	29855917	29855918	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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	380	---	---	---	---					
SEZ6L2	26470	broad.mit.edu	37	16	29891248	29891249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:29891248_29891249insG	ENST00000308713.5	-	9	2036_2037	c.1509_1510insC	c.(1507-1512)ccatgcfs	p.C504fs	SEZ6L2_ENST00000350527.3_Frame_Shift_Ins_p.C434fs|SEZ6L2_ENST00000537485.1_Frame_Shift_Ins_p.C460fs|SEZ6L2_ENST00000346932.5_Frame_Shift_Ins_p.C390fs	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	504	Sushi 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCGATGGCATTGGGGGGCCCAG	0.604													33	2279	---	---	---	---					
TAOK2	9344	broad.mit.edu	37	16	29997842	29997843	+	Frame_Shift_Ins	INS	-	-	C	rs74627491		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:29997842_29997843insC	ENST00000308893.4	+	16	3292_3293	c.2249_2250insC	c.(2248-2250)cccfs	p.P750fs	TAOK2_ENST00000543033.1_Intron|TAOK2_ENST00000416441.2_Frame_Shift_Ins_p.P577fs|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	750					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCAGGCCAGCGCCCCCCGGGCC	0.653													14	340	---	---	---	---					
MYLPF	29895	broad.mit.edu	37	16	30389139	30389140	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:30389139_30389140insC	ENST00000322861.7	+	7	509_510	c.428_429insC	c.(427-429)tccfs	p.S143fs		NM_013292.3	NP_037424.2	Q96A32	MLRS_HUMAN	myosin light chain, phosphorylatable, fast skeletal muscle	143	EF-hand 3.				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle			large_intestine(2)|lung(4)	6			Colorectal(24;0.193)			TGGGCGGCCTTCCCCCCCGACG	0.673													11	213	---	---	---	---					
PRSS36	146547	broad.mit.edu	37	16	31150534	31150535	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:31150534_31150535insG	ENST00000268281.4	-	15	2550_2551	c.2492_2493insC	c.(2491-2493)cgafs	p.R831fs	PRSS36_ENST00000569305.1_Frame_Shift_Ins_p.R826fs|PRSS36_ENST00000418068.2_Frame_Shift_Ins_p.R728fs	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	831					proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						TGGCCAGTTCTGGGGGGCAGAG	0.639													7	225	---	---	---	---					
TRIM72	493829	broad.mit.edu	37	16	31230628	31230629	+	Frame_Shift_Ins	INS	-	-	G	rs148214926	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:31230628_31230629insG	ENST00000322122.3	+	4	789_790	c.505_506insG	c.(505-507)gggfs	p.G169fs		NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN	tripartite motif containing 72	169					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						GCGTCAGTTCCGGGGGGCCGTG	0.658													8	358	---	---	---	---					
ITGAD	3681	broad.mit.edu	37	16	31426253	31426254	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:31426253_31426254insC	ENST00000389202.2	+	18	2273_2274	c.2224_2225insC	c.(2224-2226)cccfs	p.P742fs		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	742					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCCCATCCCCTCCCCCCAGAAC	0.545													7	441	---	---	---	---					
GPT2	84706	broad.mit.edu	37	16	46956243	46956244	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:46956243_46956244insC	ENST00000440783.2	+	9	1492_1493	c.827_828insC	c.(826-828)tccfs	p.S276fs	GPT2_ENST00000340124.4_Frame_Shift_Ins_p.S376fs	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	376					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GTGCGCCTGTGCCCCCCAGTGT	0.609													11	1176	---	---	---	---					
ABCC11	85320	broad.mit.edu	37	16	48261861	48261862	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:48261861_48261862insG	ENST00000394747.1	-	3	599_600	c.250_251insC	c.(250-252)gccfs	p.A84fs	ABCC11_ENST00000537808.1_Frame_Shift_Ins_p.A84fs|ABCC11_ENST00000394748.1_Frame_Shift_Ins_p.A84fs|ABCC11_ENST00000356608.2_Frame_Shift_Ins_p.A84fs|ABCC11_ENST00000353782.5_Frame_Shift_Ins_p.A84fs	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	84						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GTCCAGGGGCTGGGGGGCAGGA	0.495													8	770	---	---	---	---					
CES1	1066	broad.mit.edu	37	16	55857568	55857569	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:55857568_55857569insC	ENST00000422046.2	-	4	710_711	c.429_430insG	c.(427-432)ggtgatfs	p.D144fs	CES1_ENST00000360526.3_Frame_Shift_Ins_p.D145fs|CES1_ENST00000361503.4_Frame_Shift_Ins_p.D144fs|CES1_ENST00000566555.1_5'UTR			P23141	EST1_HUMAN	carboxylesterase 1	144					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CCCACCATCAGCCCCCCTCCGT	0.559													7	944	---	---	---	---					
MT4	84560	broad.mit.edu	37	16	56602768	56602769	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													41	1546	---	---	---	---					
GPR97	222487	broad.mit.edu	37	16	57717983	57717984	+	Frame_Shift_Ins	INS	-	-	G	rs148644149		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:57717983_57717984insG	ENST00000333493.4	+	9	1182_1183	c.1021_1022insG	c.(1021-1023)gggfs	p.G341fs	GPR97_ENST00000450388.3_Frame_Shift_Ins_p.G221fs|GPR97_ENST00000327655.6_Frame_Shift_Ins_p.G131fs|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	341					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGCTGGGCCCGGGGGGCTGTC	0.604													12	215	---	---	---	---					
CNGB1	1258	broad.mit.edu	37	16	57938727	57938728	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													11	325	---	---	---	---					
SLC38A7	55238	broad.mit.edu	37	16	58713788	58713789	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:58713788_58713789insC	ENST00000570101.1	-	2	1125_1126	c.242_243insG	c.(241-243)ggtfs	p.G81fs	SLC38A7_ENST00000564391.1_Frame_Shift_Ins_p.G81fs|SLC38A7_ENST00000564100.1_Frame_Shift_Ins_p.G81fs|SLC38A7_ENST00000564010.1_Intron|SLC38A7_ENST00000219320.4_Frame_Shift_Ins_p.G81fs|SLC38A7_ENST00000566953.1_Intron			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	81					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						CTGCTGCCACGCCCCCCGCAGT	0.624													12	295	---	---	---	---					
CDH11	1009	broad.mit.edu	37	16	65022076	65022077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:65022076_65022077insC	ENST00000394156.3	-	7	1435_1436	c.982_983insG	c.(982-984)gatfs	p.D328fs	CDH11_ENST00000268603.4_Frame_Shift_Ins_p.D328fs|CDH11_ENST00000566827.1_Frame_Shift_Ins_p.D202fs			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	328	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CAGCTTTATCACCCCCTCCTGT	0.460			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			11	1739	---	---	---	---					
CDH5	1003	broad.mit.edu	37	16	66423350	66423351	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:66423350_66423351insG	ENST00000341529.3	+	5	854_855	c.706_707insG	c.(706-708)gggfs	p.G236fs	CDH5_ENST00000563425.2_Frame_Shift_Ins_p.G236fs	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	236	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CCAGGGCCTCCGGGGGGACTCG	0.579													17	1061	---	---	---	---					
NAE1	8883	broad.mit.edu	37	16	66839678	66839679	+	Splice_Site	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:66839678_66839679insC	ENST00000379463.2	-	20	1670		c.e20+1		NAE1_ENST00000394074.2_Splice_Site|NAE1_ENST00000359087.4_Splice_Site|NAE1_ENST00000290810.3_Splice_Site	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1						apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TATGGAACTCACCCCCCAAGAA	0.406													10	165	---	---	---	---					
C16orf70	80262	broad.mit.edu	37	16	67180988	67180989	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:67180988_67180989insC	ENST00000219139.3	+	16	1411_1412	c.1223_1224insC	c.(1222-1224)gccfs	p.A408fs	C16orf70_ENST00000569600.1_Frame_Shift_Ins_p.A408fs	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	408								p.R411fs*4(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ACCCTGTATGGCCCCCCCAGGC	0.594													49	782	---	---	---	---					
KIAA0895L	653319	broad.mit.edu	37	16	67213789	67213790	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:67213789_67213790insC	ENST00000290881.7	-	4	1568_1569	c.642_643insG	c.(640-645)ggagctfs	p.A215fs	KIAA0895L_ENST00000561621.1_Frame_Shift_Ins_p.A215fs|KIAA0895L_ENST00000563902.1_Frame_Shift_Ins_p.A215fs|KIAA0895L_ENST00000563831.2_Intron			Q68EN5	K895L_HUMAN	KIAA0895-like	215										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GTGAGCAGCTGCCCCCCAGTGG	0.569													7	276	---	---	---	---					
SLC9A5	6553	broad.mit.edu	37	16	67290903	67290904	+	Frame_Shift_Ins	INS	-	-	G	rs35182421		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:67290903_67290904insG	ENST00000299798.11	+	7	1287_1288	c.1222_1223insG	c.(1222-1224)gggfs	p.G408fs		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	408					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.R408W(1)		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)		TGGGGGCCTGCGGGGGGCTGTG	0.559													10	239	---	---	---	---					
KCTD19	146212	broad.mit.edu	37	16	67325657	67325658	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:67325657_67325658insG	ENST00000304372.5	-	13	2356_2357	c.2301_2302insC	c.(2299-2304)cctggtfs	p.G768fs		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	768						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)		CTGCCCACCACGGGGGGGTGAG	0.574													12	133	---	---	---	---					
DPEP2	64174	broad.mit.edu	37	16	68021467	68021468	+	Frame_Shift_Ins	INS	-	-	G	rs1133090	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:68021467_68021468insG	ENST00000412757.2	-	12	2067_2068	c.1402_1403insC	c.(1402-1404)catfs	p.H468fs	DPEP2_ENST00000393847.1_Frame_Shift_Ins_p.H468fs|DPEP2_ENST00000572888.1_Frame_Shift_Ins_p.H468fs			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	468			H -> D (in dbSNP:rs1133090).		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)		TGGGGCCATGTGGGGGGAGGAC	0.545													35	1177	---	---	---	---					
PLA2G15	23659	broad.mit.edu	37	16	68289854	68289855	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:68289854_68289855insG	ENST00000219345.5	+	5	771_772	c.688_689insG	c.(688-690)gggfs	p.G230fs	PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000413021.2_Frame_Shift_Ins_p.G136fs|PLA2G15_ENST00000566188.1_Frame_Shift_Ins_p.R188fs	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	230					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						GGGTGCGCCCTGGGGGGGCGTG	0.629													17	296	---	---	---	---					
PDXDC2P	283970	broad.mit.edu	37	16	70012006	70012007	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:70012006_70012007insG	ENST00000325845.7	-	25	2588_2589	c.519_520insC	c.(517-522)ccctgcfs	p.C174fs	RP11-419C5.2_ENST00000532298.1_Frame_Shift_Ins_p.C206fs|PDXDC2P_ENST00000531894.1_RNA|RP11-419C5.2_ENST00000525562.1_5'UTR																breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						TTTCTTGCAGAGGGGGTGATCT	0.465													8	2647	---	---	---	---					
HYDIN	54768	broad.mit.edu	37	16	70934982	70934983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													10	1488	---	---	---	---					
ZNF23	7571	broad.mit.edu	37	16	71483561	71483562	+	Frame_Shift_Ins	INS	-	-	A	rs143301392	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:71483561_71483562insA	ENST00000393539.2	-	6	1179_1180	c.366_367insT	c.(364-369)ttgtcafs	p.LS122fs	RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000417828.1_Frame_Shift_Ins_p.LS122fs|ZNF23_ENST00000357254.4_Frame_Shift_Ins_p.LS122fs|ZNF23_ENST00000564528.1_Frame_Shift_Ins_p.LS64fs|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000428724.2_Frame_Shift_Ins_p.LS64fs|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000358700.2_3'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		GAACTTTGACTAAAAAAACACT	0.441													8	573	---	---	---	---					
MARVELD3	91862	broad.mit.edu	37	16	71668441	71668442	+	Frame_Shift_Ins	INS	-	-	G	rs150498655	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:71668441_71668442insG	ENST00000268485.3	+	3	985_986	c.941_942insG	c.(940-942)gggfs	p.G314fs	MARVELD3_ENST00000567501.1_3'UTR|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	314	MARVEL.					integral to membrane		p.A314V(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				ATGCTCATCGCGGGGGGGTACA	0.579													10	207	---	---	---	---					
NPIPB15	440348	broad.mit.edu	37	16	74423894	74423895	+	Splice_Site	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:74423894_74423895insC	ENST00000429990.1	+	6	704_705	c.606_splice	c.e6-1	p.T203_splice						nuclear pore complex interacting protein family, member B15																		CTTTTTCAGATCCCCCCTTCTG	0.455													10	1806	---	---	---	---					
GLG1	2734	broad.mit.edu	37	16	74525008	74525009	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:74525008_74525009insC	ENST00000422840.2	-	8	1338_1339	c.1339_1340insG	c.(1339-1341)gatfs	p.D447fs	GLG1_ENST00000205061.5_Frame_Shift_Ins_p.D447fs|GLG1_ENST00000447066.2_Frame_Shift_Ins_p.D436fs	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	447						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GTGTTCAATCTCCCCCCGACAG	0.515													9	276	---	---	---	---					
FA2H	79152	broad.mit.edu	37	16	74752942	74752943	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													15	696	---	---	---	---					
CFDP1	10428	broad.mit.edu	37	16	75446448	75446449	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:75446448_75446449insG	ENST00000283882.3	-	3	518_519	c.386_387insC	c.(385-387)cagfs	p.Q129fs	CFDP1_ENST00000564286.1_5'UTR	NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN	craniofacial development protein 1	129	Glu-rich.				multicellular organismal development					endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						CTTGTGTACTTGGGGGCACTTT	0.455													12	1976	---	---	---	---					
CDYL2	124359	broad.mit.edu	37	16	80646542	80646543	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:80646542_80646543insG	ENST00000299564.8	-	5	1353_1354	c.1198_1199insC	c.(1198-1200)gatfs	p.D400fs	CDYL2_ENST00000562812.1_Frame_Shift_Ins_p.D401fs|CDYL2_ENST00000566173.1_Frame_Shift_Ins_p.D401fs|CDYL2_ENST00000563890.1_Frame_Shift_Ins_p.D401fs	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	400						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GCCCAGGATCTGGGGGAAGGTG	0.624													8	438	---	---	---	---					
C16orf46	123775	broad.mit.edu	37	16	81095588	81095589	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:81095588_81095589insC	ENST00000378611.4	-	3	480_481	c.365_366insG	c.(364-366)gccfs	p.A122fs	C16orf46_ENST00000299578.5_Frame_Shift_Ins_p.A122fs|RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_5'UTR	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	122										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CCTTCTCTGGGCCCCCCTCAGT	0.614													9	491	---	---	---	---					
ANKRD11	29123	broad.mit.edu	37	16	89349751	89349752	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:89349751_89349752delTA	ENST00000301030.4	-	9	3658_3659	c.3198_3199delTA	c.(3196-3201)caaafs	p.HK1066fs	ANKRD11_ENST00000378330.2_Frame_Shift_Del_p.HK1066fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1066	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGTGTGTCTTTATGTTTTTCCT	0.386													9	287	---	---	---	---					
GLOD4	51031	broad.mit.edu	37	17	673668	673669	+	Frame_Shift_Ins	INS	-	-	G	rs148496651		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:673668_673669insG	ENST00000301329.6	-	6	707_708	c.622_623insC	c.(622-624)gaafs	p.E208fs	GLOD4_ENST00000536578.1_Frame_Shift_Ins_p.E199fs|GLOD4_ENST00000301328.5_Frame_Shift_Ins_p.E223fs	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	223						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TACCTCTTTCTGGGGGCAAGAG	0.480													12	2548	---	---	---	---					
PRPF8	10594	broad.mit.edu	37	17	1562780	1562781	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:1562780_1562781insC	ENST00000572621.1	-	31	5273_5274	c.5008_5009insG	c.(5008-5010)ctafs	p.L1670fs	PRPF8_ENST00000304992.6_Frame_Shift_Ins_p.L1670fs			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1670	Involved in interaction with pre-mRNA 5' splice site.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GGAATCATAGTCCCCCCAGCGC	0.535													8	827	---	---	---	---					
RPA1	6117	broad.mit.edu	37	17	1782982	1782983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:1782982_1782983insG	ENST00000254719.5	+	11	1191_1192	c.1081_1082insG	c.(1081-1083)gggfs	p.G361fs		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	361					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|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	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGCTACACTGTGGGGGGAAGAT	0.530								Nucleotide excision repair (NER)					24	2055	---	---	---	---					
TSR1	55720	broad.mit.edu	37	17	2227499	2227500	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:2227499_2227500insC	ENST00000301364.4	-	15	3484_3485	c.2405_2406insG	c.(2404-2406)gatfs	p.D802fs	SRR_ENST00000344595.5_3'UTR	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	802					ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						ATTACTCCATGCCCCCTTGAGG	0.450													8	1683	---	---	---	---					
PAFAH1B1	5048	broad.mit.edu	37	17	2583499	2583500	+	Frame_Shift_Ins	INS	-	-	G	rs113994201		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:2583499_2583500insG	ENST00000397195.5	+	10	1495_1496	c.1044_1045insG	c.(1042-1047)tcggggfs	p.SG348fs	PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.SG143fs|PAFAH1B1_ENST00000397193.3_3'UTR	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													26	1642	---	---	---	---					
CLUH	23277	broad.mit.edu	37	17	2601712	2601713	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:2601712_2601713insC	ENST00000570628.1	-	10	1429_1430	c.1324_1325insG	c.(1324-1326)cgtfs	p.R442fs	CLUH_ENST00000538975.1_Frame_Shift_Ins_p.R442fs|CLUH_ENST00000575014.1_Frame_Shift_Ins_p.R374fs|CLUH_ENST00000435359.1_Frame_Shift_Ins_p.R442fs					clustered mitochondria (cluA/CLU1) homolog																		GGCCGCCACGTCCCCCCCGAAG	0.624													14	206	---	---	---	---					
OR1A2	26189	broad.mit.edu	37	17	3101019	3101020	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:3101019_3101020delTG	ENST00000381951.1	+	1	207_208	c.207_208delTG	c.(205-210)gtacfs	p.VD69fs		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TCTCCTTGGTTGACATCATCTT	0.485													7	2146	---	---	---	---					
OR1E1	8387	broad.mit.edu	37	17	3301316	3301317	+	Frame_Shift_Ins	INS	-	-	G	rs138370923	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:3301316_3301317insG	ENST00000322608.2	-	1	387_388	c.388_389insC	c.(388-390)gcafs	p.A130fs		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						GGTGTAGTGCAGGGGGAAGCAG	0.559													15	1023	---	---	---	---					
ZMYND15	84225	broad.mit.edu	37	17	4647723	4647724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:4647723_4647724insC	ENST00000433935.1	+	10	1701_1702	c.1644_1645insC	c.(1642-1647)ctccccfs	p.LP548fs	ZMYND15_ENST00000269289.6_Frame_Shift_Ins_p.LP509fs|ZMYND15_ENST00000592813.1_Frame_Shift_Ins_p.LP509fs|ZMYND15_ENST00000573751.2_Frame_Shift_Ins_p.LP548fs	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	509							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GTGATGGCCTGCCCCCCGAAAG	0.594													13	438	---	---	---	---					
PSMB6	5694	broad.mit.edu	37	17	4700049	4700050	+	Frame_Shift_Ins	INS	-	-	G	rs143768117		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:4700049_4700050insG	ENST00000270586.3	+	2	180_181	c.129_130insG	c.(127-132)gaggggfs	p.EG43fs		NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	43					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						TGCAGTTTGACGGGGGCGTGGT	0.515													8	2454	---	---	---	---					
CAMTA2	23125	broad.mit.edu	37	17	4883037	4883038	+	Frame_Shift_Ins	INS	-	-	G	rs149765180		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:4883037_4883038insG	ENST00000361571.5	-	8	1987_1988	c.1576_1577insC	c.(1576-1578)gctfs	p.A526fs	CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.A529fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.A532fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.A527fs|CAMTA2_ENST00000348066.3_Frame_Shift_Ins_p.A527fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.A550fs	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	527					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AGGAGACAGCTGGGGGGTCGGA	0.559													7	1194	---	---	---	---					
ALOX12	239	broad.mit.edu	37	17	6904973	6904974	+	Frame_Shift_Ins	INS	-	-	C	rs138651024	by1000genomes	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:6904973_6904974insC	ENST00000251535.6	+	8	1057_1058	c.1004_1005insC	c.(1003-1005)gccfs	p.A335fs	AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000575727.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000399540.2_3'UTR	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	335	Lipoxygenase.				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						CTGCCCTCAGACCCCCCACTTG	0.515													8	828	---	---	---	---					
BCL6B	255877	broad.mit.edu	37	17	6927857	6927858	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:6927857_6927858insC	ENST00000293805.5	+	4	631_632	c.539_540insC	c.(538-540)gccfs	p.A180fs	BCL6B_ENST00000572216.1_3'UTR	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	180	Pro-rich.					nucleus	zinc ion binding	p.S183fs*6(1)		skin(1)	1						TGCAGTCAAGGCCCCCCCAGTC	0.619													11	326	---	---	---	---					
ELP5	23587	broad.mit.edu	37	17	7157965	7157966	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:7157965_7157966insG	ENST00000574993.1	+	4	517_518	c.300_301insG	c.(298-303)ccggggfs	p.PG100fs	ELP5_ENST00000396627.2_Frame_Shift_Ins_p.PG100fs|ELP5_ENST00000574255.1_Frame_Shift_Ins_p.PG100fs|ELP5_ENST00000396628.2_Frame_Shift_Ins_p.PG100fs|ELP5_ENST00000573657.1_Frame_Shift_Ins_p.PG100fs|ELP5_ENST00000356683.2_Frame_Shift_Ins_p.PG100fs|ELP5_ENST00000354429.2_Frame_Shift_Ins_p.PG100fs|RP1-4G17.5_ENST00000577138.1_Intron					elongator acetyltransferase complex subunit 5																		AGGCCTTTCCTGGGGGGCCGCT	0.515													9	406	---	---	---	---					
YBX2	51087	broad.mit.edu	37	17	7193636	7193637	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:7193636_7193637insG	ENST00000007699.5	-	5	740_741	c.677_678insC	c.(676-678)cccfs	p.P226fs		NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	226	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						AGAAGAAGGGTGGGGGGCACCA	0.658													10	946	---	---	---	---					
GPS2	2874	broad.mit.edu	37	17	7216379	7216380	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:7216379_7216380insG	ENST00000380728.2	-	10	1168_1169	c.868_869insC	c.(868-870)gctfs	p.A290fs	GPS2_ENST00000391950.3_Frame_Shift_Ins_p.A290fs|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000389167.5_Frame_Shift_Ins_p.A290fs			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	290					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				CACAGGGAGCTGGGGGGAAGCA	0.550													11	745	---	---	---	---					
PLSCR3	57048	broad.mit.edu	37	17	7294058	7294059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:7294058_7294059insC	ENST00000535512.1	-	10	1742_1743	c.725_726insG	c.(724-726)gctfs	p.A242fs	PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000576362.1_Frame_Shift_Ins_p.A218fs|PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.A242fs|C17orf61-PLSCR3_ENST00000573331.1_3'UTR			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													32	745	---	---	---	---					
CHRNB1	1140	broad.mit.edu	37	17	7350885	7350886	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:7350885_7350886insGT	ENST00000306071.2	+	6	593_594	c.526_527insGT	c.(526-528)ctcfs	p.L176fs	CHRNB1_ENST00000576360.1_Frame_Shift_Ins_p.L104fs|CHRNB1_ENST00000536404.2_Frame_Shift_Ins_p.L104fs	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	176					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				CAGCTACGACAGCTCGGAGGTC	0.550													70	666	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7573943	7573944	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:7573943_7573944insC	ENST00000269305.4	-	10	1272_1273	c.1083_1084insG	c.(1081-1086)gggcagfs	p.Q362fs	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Q362fs|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	362	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with USP7.				activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.I332fs*5(1)|p.G361fs*8(1)|p.?(1)|p.S362fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGAGCCCTGCTCCCCCCTGGCT	0.594		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			7	544	---	---	---	---					
WRAP53	55135	broad.mit.edu	37	17	7592154	7592156	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:7592154_7592156delTGT	ENST00000316024.5	+	1	2536_2538	c.188_190delTGT	c.(187-192)gcc>g	p.VS63del	WRAP53_ENST00000457584.2_In_Frame_Del_p.VS63del|WRAP53_ENST00000396463.2_In_Frame_Del_p.VS63del|WRAP53_ENST00000534050.1_In_Frame_Del_p.VS63del|WRAP53_ENST00000431639.2_In_Frame_Del_p.VS63del			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	63					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GGCTCAGCTGTGTCCCAGGAGCT	0.586													33	675	---	---	---	---					
EFNB3	1949	broad.mit.edu	37	17	7612855	7612856	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:7612855_7612856insC	ENST00000226091.2	+	5	1381_1382	c.984_985insC	c.(982-987)ggccccfs	p.GP328fs		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	328					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGCAGGATGGGCCCCCCCAGAG	0.574													15	548	---	---	---	---					
DNAH2	146754	broad.mit.edu	37	17	7696373	7696374	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:7696373_7696374insG	ENST00000572933.1	+	48	8879_8880	c.7419_7420insG	c.(7417-7422)ttggggfs	p.LG2473fs	DNAH2_ENST00000389173.2_Frame_Shift_Ins_p.LG2473fs			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2473	AAA 3 (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)				ACGTGCCATTCGGGGGCAAAAG	0.510													14	1435	---	---	---	---					
CHD3	1107	broad.mit.edu	37	17	7798702	7798703	+	Frame_Shift_Ins	INS	-	-	G	rs142170880	by1000genomes	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:7798702_7798703insG	ENST00000380358.4	+	10	1727_1728	c.1726_1727insG	c.(1726-1728)gggfs	p.G576fs	CHD3_ENST00000358181.4_Frame_Shift_Ins_p.G517fs|CHD3_ENST00000330494.7_Frame_Shift_Ins_p.G517fs	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	517	Chromo 1.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ACATTGGCGGTGGGGGGAGCCA	0.569													11	1022	---	---	---	---					
CNTROB	116840	broad.mit.edu	37	17	7852808	7852809	+	Frame_Shift_Ins	INS	-	-	G	rs35508310		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:7852808_7852809insG	ENST00000380262.3	+	19	3683_3684	c.2758_2759insG	c.(2758-2760)gggfs	p.G920fs	CNTROB_ENST00000563694.1_Frame_Shift_Ins_p.G898fs|CNTROB_ENST00000565740.1_Frame_Shift_Ins_p.G899fs|CNTROB_ENST00000380255.3_3'UTR	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	898					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CATGAGGAGCCGGGGGGGAGTC	0.550													7	170	---	---	---	---					
VAMP2	6844	broad.mit.edu	37	17	8065660	8065661	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:8065660_8065661insG	ENST00000316509.6	-	2	124_125	c.29_30insC	c.(28-30)cgcfs	p.R10fs	VAMP2_ENST00000481878.1_Frame_Shift_Ins_p.R10fs|RP11-599B13.6_ENST00000498285.1_Frame_Shift_Ins_p.R10fs|VAMP2_ENST00000404970.3_5'UTR|VAMP2_ENST00000488857.1_Frame_Shift_Ins_p.R12fs	NM_014232.2	NP_055047.2	P63027	VAMP2_HUMAN	vesicle-associated membrane protein 2 (synaptobrevin 2)	10					energy reserve metabolic process|glutamate secretion|post-Golgi vesicle-mediated transport|regulation of insulin secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to plasma membrane|synaptic vesicle membrane|synaptosome										Botulinum Toxin Type B(DB00042)	CCGGGGCAGCAGGGGGGGCCGT	0.698													7	76	---	---	---	---					
CTC1	80169	broad.mit.edu	37	17	8133713	8133714	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:8133713_8133714insG	ENST00000315684.8	-	17	2838_2839	c.2831_2832insC	c.(2830-2832)ccafs	p.P944fs		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	944					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CATCCAGGTGAGGGGGGAATTC	0.520													15	705	---	---	---	---					
CTC1	80169	broad.mit.edu	37	17	8138564	8138565	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:8138564_8138565insC	ENST00000315684.8	-	8	1252_1253	c.1245_1246insG	c.(1243-1248)ggcaagfs	p.K416fs		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	416					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGCCTTCTTGTCCCCCCTCCCA	0.584													13	786	---	---	---	---					
PFAS	5198	broad.mit.edu	37	17	8167584	8167585	+	Frame_Shift_Ins	INS	-	-	C	rs138697840	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:8167584_8167585insC	ENST00000314666.6	+	16	1979_1980	c.1846_1847insC	c.(1846-1848)cccfs	p.P616fs	PFAS_ENST00000545834.1_Frame_Shift_Ins_p.P192fs|PFAS_ENST00000585319.1_3'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	616					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCAGGGGGATGCCCCCCCGACA	0.594													8	143	---	---	---	---					
ARHGEF15	22899	broad.mit.edu	37	17	8219107	8219108	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:8219107_8219108insC	ENST00000361926.3	+	8	1566_1567	c.1456_1457insC	c.(1456-1458)cccfs	p.P486fs	ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.P486fs	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	486	DH.				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						TGTGCGCTCTTCCCCCCACATC	0.584													9	428	---	---	---	---					
MFSD6L	162387	broad.mit.edu	37	17	8701347	8701348	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:8701347_8701348insC	ENST00000329805.4	-	1	1319_1320	c.1091_1092insG	c.(1090-1092)ggafs	p.G364fs		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	364						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GGTGGGGGTCACCCCCCACAAT	0.550													7	248	---	---	---	---					
MYH1	4619	broad.mit.edu	37	17	10419785	10419786	+	Frame_Shift_Ins	INS	-	-	C	rs147810417		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:10419785_10419786insC	ENST00000226207.5	-	3	268_269	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_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	59	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCTGTCACCTTCCCCCCTTCCC	0.475													12	1407	---	---	---	---					
ADPRM	56985	broad.mit.edu	37	17	10608647	10608647	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:10608647delT	ENST00000379774.4	+	2	495	c.404delT	c.(403-405)atfs	p.I135fs	ADPRM_ENST00000527582.2_Frame_Shift_Del_p.I135fs	NM_020233.4	NP_064618.3			ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent																		GAAGATCAGATTGTACATCAT	0.348													8	179	---	---	---	---					
DNAH9	1770	broad.mit.edu	37	17	11687738	11687739	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:11687738_11687739insC	ENST00000262442.3	+	41	8011_8012	c.7943_7944insC	c.(7942-7944)accfs	p.T2648fs	DNAH9_ENST00000454412.2_Frame_Shift_Ins_p.T2648fs	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2648	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGAAATCCATCCCCCCACTGA	0.535													13	1135	---	---	---	---					
MYOCD	93649	broad.mit.edu	37	17	12642605	12642606	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:12642605_12642606insC	ENST00000425538.1	+	7	877_878	c.677_678insC	c.(676-678)gccfs	p.A226fs	MYOCD_ENST00000395988.1_Frame_Shift_Ins_p.A130fs|MYOCD_ENST00000343344.4_Frame_Shift_Ins_p.A226fs	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													10	255	---	---	---	---					
UBB	7314	broad.mit.edu	37	17	16285784	16285785	+	Frame_Shift_Ins	INS	-	-	C	rs150470406		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:16285784_16285785insC	ENST00000302182.3	+	2	955_956	c.563_564insC	c.(562-564)accfs	p.T188fs	UBB_ENST00000395837.1_Frame_Shift_Ins_p.T188fs|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000395839.1_Frame_Shift_Ins_p.T188fs|UBB_ENST00000535788.1_Frame_Shift_Ins_p.T112fs|RP11-138I1.4_ENST00000583934.1_RNA	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	188	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.D191fs*35(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAAGAAGGCATCCCCCCCGACC	0.545													7	183	---	---	---	---					
MYO15A	51168	broad.mit.edu	37	17	18057111	18057112	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:18057111_18057112insC	ENST00000205890.5	+	43	8327_8328	c.7989_7990insC	c.(7987-7992)gaccccfs	p.DP2663fs	MYO15A_ENST00000418233.3_5'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2663	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GATCGCTGGAGCCCCCTGAGGA	0.525													7	1494	---	---	---	---					
MYO15A	51168	broad.mit.edu	37	17	18082157	18082158	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:18082157_18082158insC	ENST00000205890.5	+	66	10904_10905	c.10566_10567insC	c.(10564-10569)ttccccfs	p.FP3522fs	MYO15A_ENST00000451725.2_3'UTR|MYO15A_ENST00000418233.3_3'UTR|RP11-258F1.1_ENST00000583062.1_RNA|RP11-258F1.1_ENST00000577847.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3522	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGCTCACATTGCCCCCCAGCGA	0.604													8	247	---	---	---	---					
USP32P2	220594	broad.mit.edu	37	17	18430770	18430771	+	RNA	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:18430770_18430771insC	ENST00000425211.1	-	0	1497																											GCCCCAACGCACCCCCCCACTT	0.564													17	301	---	---	---	---					
SLC47A1	55244	broad.mit.edu	37	17	19459097	19459098	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:19459097_19459098insC	ENST00000571335.1	+	7	563_564	c.143_144insC	c.(142-144)gccfs	p.A48fs	SLC47A1_ENST00000395585.1_Intron|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000542886.1_Intron|SLC47A1_ENST00000436810.2_Intron|SLC47A1_ENST00000457293.1_Intron|SLC47A1_ENST00000270570.4_Intron			Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	0						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					AATGTGTGTGTCCCCCCCACAG	0.599													26	327	---	---	---	---					
KRT16P3	644945	broad.mit.edu	37	17	20405869	20405870	+	RNA	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:20405869_20405870insG	ENST00000580113.1	-	0	993_994																											ACTGGTGACTTGGGGGCTGCTG	0.554													7	611	---	---	---	---					
UBBP4	23666	broad.mit.edu	37	17	21731033	21731034	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:21731033_21731034insC	ENST00000584755.1	+	2	732_733	c.335_336insC	c.(334-336)accfs	p.T112fs	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_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													14	279	---	---	---	---					
KSR1	8844	broad.mit.edu	37	17	25910015	25910016	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:25910015_25910016insC	ENST00000398988.3	+	5	898_899	c.453_454insC	c.(451-456)acccccfs	p.TP151fs	KSR1_ENST00000268763.6_Frame_Shift_Ins_p.TP151fs|KSR1_ENST00000319524.6_Frame_Shift_Ins_p.TP288fs|KSR1_ENST00000509603.2_Frame_Shift_Ins_p.TP288fs	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	286					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.P292fs*22(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CACCACGGACGCCCCCCCCACC	0.678													9	33	---	---	---	---					
LGALS9	3965	broad.mit.edu	37	17	25975971	25975972	+	Frame_Shift_Ins	INS	-	-	G	rs138666349		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:25975971_25975972insG	ENST00000395473.2	+	11	2499_2500	c.1031_1032insG	c.(1030-1032)gggfs	p.G344fs	LGALS9_ENST00000313648.6_3'UTR|LGALS9_ENST00000310394.5_Frame_Shift_Ins_p.G300fs|LGALS9_ENST00000302228.5_Frame_Shift_Ins_p.G312fs|LGALS9_ENST00000413914.2_3'UTR	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	344	Galectin 2.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		AGACTGGAAGTGGGGGGCGACA	0.614													10	699	---	---	---	---					
SLC13A2	9058	broad.mit.edu	37	17	26817513	26817514	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:26817513_26817514insG	ENST00000444914.3	+	3	840_841	c.420_421insG	c.(418-423)ttggggfs	p.LG140fs	SLC13A2_ENST00000314669.5_Frame_Shift_Ins_p.LG91fs|SLC13A2_ENST00000537681.1_Frame_Shift_Ins_p.LG20fs|SLC13A2_ENST00000545060.1_Frame_Shift_Ins_p.LG48fs	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	91						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TCCTGTTCTTCGGGGGGCTGCT	0.639													12	385	---	---	---	---					
KIAA0100	9703	broad.mit.edu	37	17	26962586	26962587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:26962586_26962587insG	ENST00000528896.2	-	16	2092_2093	c.2018_2019insC	c.(2017-2019)cgafs	p.R673fs	KIAA0100_ENST00000389003.3_Frame_Shift_Ins_p.R530fs|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Frame_Shift_Ins_p.R530fs	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	673						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ACATGTGATCTGGGGGGCTCCA	0.505													7	453	---	---	---	---					
FLOT2	2319	broad.mit.edu	37	17	27211271	27211272	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:27211271_27211272insC	ENST00000394906.2	-	5	435_436	c.358_359insG	c.(358-360)agcfs	p.S120fs	FLOT2_ENST00000577789.1_Intron|FLOT2_ENST00000585169.1_Intron|FLOT2_ENST00000394908.4_Frame_Shift_Ins_p.S65fs			Q14254	FLOT2_HUMAN	flotillin 2	65					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			AGTTAAAGCTACCCCCTCGGCC	0.609													7	391	---	---	---	---					
PHF12	57649	broad.mit.edu	37	17	27233908	27233909	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													14	415	---	---	---	---					
PHF12	57649	broad.mit.edu	37	17	27244345	27244346	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:27244345_27244346insG	ENST00000577226.1	-	7	1437_1438	c.1091_1092insC	c.(1090-1092)caafs	p.Q364fs	PHF12_ENST00000268756.3_Frame_Shift_Ins_p.Q364fs|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000332830.4_Frame_Shift_Ins_p.Q364fs			Q96QT6	PHF12_HUMAN	PHD finger protein 12	364	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)			CACGCCGGTTAGGGGGGTGCTT	0.530													22	1113	---	---	---	---					
MYO18A	399687	broad.mit.edu	37	17	27409384	27409385	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:27409384_27409385insT	ENST00000527372.1	-	41	6149_6150	c.5969_5970insA	c.(5968-5970)aaafs	p.K1990fs	TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000533112.1_Frame_Shift_Ins_p.K1938fs|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000354329.4_Frame_Shift_Ins_p.K1990fs|MYO18A_ENST00000531253.1_Frame_Shift_Ins_p.K1975fs	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1990					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AAGGTCCCTTGTTTTTTGACAA	0.535													13	1385	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27957923	27957924	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:27957923_27957924insG	ENST00000269033.3	-	15	4358_4359	c.4207_4208insC	c.(4207-4209)tagfs	p.*1403fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.*1430fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1403					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						CAGTCTCCTAAGGGGGTGAGTT	0.530													7	816	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29553477	29553478	+	Frame_Shift_Ins	INS	-	-	C	rs145092683		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:29553477_29553478insC	ENST00000358273.4	+	18	2409_2410	c.2026_2027insC	c.(2026-2028)cccfs	p.P676fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.P676fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	676					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)|p.P678fs*10(1)	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)		ATGCAGCGGAACCCCCCCGATT	0.460			"""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)			9	195	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29576097	29576098	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:29576097_29576098insC	ENST00000358273.4	+	30	4453_4454	c.4070_4071insC	c.(4069-4071)tccfs	p.S1357fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.S1357fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1357	Ras-GAP.				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)		TCCTCAGAATTCCCCCCTCAAC	0.406			"""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)			14	634	---	---	---	---					
RAB11FIP4	84440	broad.mit.edu	37	17	29758897	29758898	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:29758897_29758898insG	ENST00000325874.8	+	2	455_456	c.226_227insG	c.(226-228)gggfs	p.G76fs		NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	76	EF-hand.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	p.?(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GGACTTTTGCCGGGGGGTGTTC	0.579													16	436	---	---	---	---					
PSMD11	5717	broad.mit.edu	37	17	30796173	30796174	+	Frame_Shift_Ins	INS	-	-	C	rs34078182	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:30796173_30796174insC	ENST00000261712.3	+	6	868_869	c.605_606insC	c.(604-606)tccfs	p.S202fs	PSMD11_ENST00000457654.2_Frame_Shift_Ins_p.S202fs	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	202					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			GCCATCTACTGCCCCCCTAAAT	0.475													7	209	---	---	---	---					
TAF15	8148	broad.mit.edu	37	17	34171885	34171886	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:34171885_34171886insG	ENST00000588240.1	+	15	1697_1698	c.1582_1583insG	c.(1582-1584)gggfs	p.G528fs	TAF15_ENST00000592237.1_Splice_Site_p.TG332_splice|TAF15_ENST00000311979.3_Frame_Shift_Ins_p.G525fs	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	528	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		agACAGAAGCCGGGGGGGCTAT	0.609			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								17	251	---	---	---	---					
ACACA	31	broad.mit.edu	37	17	35487100	35487101	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:35487100_35487101insC	ENST00000353139.5	-	46	6204_6205	c.5723_5724insG	c.(5722-5724)gatfs	p.D1908fs	ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.D1871fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.D1813fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.D1793fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1871	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TAATCTGGATGCCCCCCAGCTG	0.495													14	1737	---	---	---	---					
ACACA	31	broad.mit.edu	37	17	35600370	35600371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:35600370_35600371insG	ENST00000353139.5	-	22	3328_3329	c.2847_2848insC	c.(2845-2850)ccatgtfs	p.C950fs	ACACA_ENST00000394406.2_Frame_Shift_Ins_p.C913fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.C855fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.C835fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	913					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTCCACATTGGGGGGAATGC	0.470													50	3612	---	---	---	---					
HNF1B	6928	broad.mit.edu	37	17	36059173	36059174	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:36059173_36059174insG	ENST00000225893.4	-	8	1922_1923	c.1561_1562insC	c.(1561-1563)gtafs	p.V521fs	HNF1B_ENST00000561193.1_Frame_Shift_Ins_p.V495fs|HNF1B_ENST00000560016.1_Intron|HNF1B_ENST00000427275.2_Intron	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	521					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTGGGAATACTGGGGGGGTTCC	0.515													13	406	---	---	---	---					
MRPL45	84311	broad.mit.edu	37	17	36478158	36478159	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:36478158_36478159insC	ENST00000312513.5	+	7	971_972	c.810_811insC	c.(808-813)gcccccfs	p.AP270fs		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	270					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCCCATGGGCACCCCCTAAGCA	0.515											OREG0024353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	605	---	---	---	---					
PCGF2	7703	broad.mit.edu	37	17	36896586	36896587	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:36896586_36896587insC	ENST00000580830.1	-	4	770_771	c.69_70insG	c.(67-72)ggacttfs	p.L24fs	PCGF2_ENST00000579882.1_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000581345.1_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000585100.1_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000360797.2_Frame_Shift_Ins_p.L24fs			P35227	PCGF2_HUMAN	polycomb group ring finger 2	24					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					TCGATGAAGTACCCCCCGCAGA	0.629													18	1577	---	---	---	---					
PIP4K2B	8396	broad.mit.edu	37	17	36936833	36936834	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:36936833_36936834insG	ENST00000269554.3	-	4	858_859	c.378_379insC	c.(376-381)cctcaafs	p.Q127fs	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	127	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						TCACTGTTGATGGGGGCGCTGC	0.574													8	1263	---	---	---	---					
MED1	5469	broad.mit.edu	37	17	37566764	37566765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:37566764_37566765insC	ENST00000300651.6	-	17	1932_1933	c.1709_1710insG	c.(1708-1710)gccfs	p.A570fs	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	570	Interaction with ESR1.|Interaction with THRA.|Interaction with VDR.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGGTAATGGGACCCCCCGGAAA	0.535										HNSCC(31;0.082)			9	668	---	---	---	---					
CDK12	51755	broad.mit.edu	37	17	37627837	37627838	+	Frame_Shift_Ins	INS	-	-	C	rs145450451	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:37627837_37627838insC	ENST00000447079.4	+	2	1785_1786	c.1752_1753insC	c.(1750-1755)ttccccfs	p.FP584fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.FP584fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	584					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						CTTCAACTTTGCCCCCTTCTAC	0.505			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			9	511	---	---	---	---					
GSDMA	284110	broad.mit.edu	37	17	38133118	38133119	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:38133118_38133119insC	ENST00000301659.4	+	12	1263_1264	c.1145_1146insC	c.(1144-1146)tccfs	p.S382fs		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	382					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						GAGGGTGTTTTCCCCCTGCAAC	0.559													7	1075	---	---	---	---					
MED24	9862	broad.mit.edu	37	17	38179524	38179525	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:38179524_38179525insG	ENST00000394126.1	-	19	2602_2603	c.2184_2185insC	c.(2182-2187)ccagcgfs	p.A729fs	MED24_ENST00000394128.2_Frame_Shift_Ins_p.A704fs|MED24_ENST00000394127.2_Frame_Shift_Ins_p.A691fs|MED24_ENST00000501516.3_Frame_Shift_Ins_p.A723fs|MED24_ENST00000356271.3_Frame_Shift_Ins_p.A691fs			O75448	MED24_HUMAN	mediator complex subunit 24	704					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					ATGGGCCGCTTGGGGGGCAGCA	0.604													18	497	---	---	---	---					
CASC3	22794	broad.mit.edu	37	17	38323810	38323811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:38323810_38323811insC	ENST00000264645.7	+	9	1822_1823	c.1596_1597insC	c.(1594-1599)gaccccfs	p.DP532fs		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	532	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CTGTGCCAGAGCCCCCCGCCCC	0.500													8	475	---	---	---	---					
KRT26	353288	broad.mit.edu	37	17	38926341	38926342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:38926341_38926342insC	ENST00000335552.4	-	4	762_763	c.714_715insG	c.(712-717)ggacgtfs	p.R239fs		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	239	Linker 12.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				ACGTTCACGTTCCCCCCAGCTG	0.480													14	1069	---	---	---	---					
JUP	3728	broad.mit.edu	37	17	39923834	39923835	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:39923834_39923835insG	ENST00000393931.3	-	5	826		c.e5-2		JUP_ENST00000393930.1_Splice_Site|JUP_ENST00000310706.5_Splice_Site|JUP_ENST00000540235.1_Splice_Site	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin						adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		ACAGGGGAGCTGGGGGGGTGGG	0.658													16	217	---	---	---	---					
ACLY	47	broad.mit.edu	37	17	40065882	40065883	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:40065882_40065883insC	ENST00000352035.2	-	5	546_547	c.416_417insG	c.(415-417)ggtfs	p.G139fs	ACLY_ENST00000537919.1_Intron|ACLY_ENST00000393896.2_Frame_Shift_Ins_p.G139fs|ACLY_ENST00000590151.1_Frame_Shift_Ins_p.G139fs|ACLY_ENST00000353196.1_Frame_Shift_Ins_p.G139fs	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	139					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CCACGTCCACACCCCCCTCGTG	0.554													7	496	---	---	---	---					
DNAJC7	7266	broad.mit.edu	37	17	40128762	40128763	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:40128762_40128763insA	ENST00000457167.4	-	14	1709_1710	c.1473_1474insT	c.(1471-1476)ttaattfs	p.LI491fs	DNAJC7_ENST00000316603.7_Frame_Shift_Ins_p.LI435fs|RP11-229E13.2_ENST00000590979.1_RNA|DNAJC7_ENST00000426588.3_Frame_Shift_Ins_p.LI435fs	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	491					chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				TAGCCAAATTGAAAAAAGAAAT	0.416													7	746	---	---	---	---					
KCNH4	23415	broad.mit.edu	37	17	40315703	40315704	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:40315703_40315704insG	ENST00000264661.3	-	13	2729_2730	c.2397_2398insC	c.(2395-2400)ccggtgfs	p.V800fs	KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.V800fs	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	800					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCAGAGCACCTGGGGGGGCCGT	0.668													8	127	---	---	---	---					
STAT3	6774	broad.mit.edu	37	17	40467768	40467769	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:40467768_40467769insG	ENST00000264657.5	-	24	2619_2620	c.2307_2308insC	c.(2305-2310)cctgtgfs	p.V770fs	STAT3_ENST00000404395.3_Frame_Shift_Ins_p.V769fs|STAT3_ENST00000585517.1_3'UTR|STAT3_ENST00000389272.3_Frame_Shift_Ins_p.V672fs|STAT3_ENST00000588969.1_Frame_Shift_Ins_p.V770fs	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	770					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GCTCCTCACATGGGGGAGGTAG	0.550									Hyperimmunoglobulin E Recurrent Infection Syndrome				11	1806	---	---	---	---					
TUBG1	7283	broad.mit.edu	37	17	40764471	40764472	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:40764471_40764472insG	ENST00000251413.3	+	5	488_489	c.426_427insG	c.(424-429)gcggggfs	p.AG142fs		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	142					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		ACTCCATTGCTGGGGGGACAGG	0.505													11	961	---	---	---	---					
ETV4	2118	broad.mit.edu	37	17	41610700	41610701	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:41610700_41610701insG	ENST00000319349.5	-	7	697_698	c.399_400insC	c.(397-402)ccgacafs	p.T134fs	ETV4_ENST00000538265.1_Frame_Shift_Ins_p.T95fs|ETV4_ENST00000545954.1_Frame_Shift_Ins_p.T95fs|ETV4_ENST00000393664.2_Frame_Shift_Ins_p.T134fs|ETV4_ENST00000545089.1_Intron|ETV4_ENST00000591713.1_Frame_Shift_Ins_p.T134fs	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	134					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GCGATTTGTCTGGGGGGGTCAT	0.579			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""								28	441	---	---	---	---					
CD300LG	146894	broad.mit.edu	37	17	41931337	41931338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:41931337_41931338insC	ENST00000317310.4	+	4	685_686	c.644_645insC	c.(643-645)cccfs	p.P215fs	CD300LG_ENST00000377203.4_Frame_Shift_Ins_p.P181fs|CD300LG_ENST00000293396.8_Frame_Shift_Ins_p.P130fs|CD300LG_ENST00000586233.1_Frame_Shift_Ins_p.P130fs|CD300LG_ENST00000539718.1_Frame_Shift_Ins_p.P215fs	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	215						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGAGCTCCCGCCCCCCCATGC	0.629													19	280	---	---	---	---					
MPP2	4355	broad.mit.edu	37	17	41960363	41960364	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:41960363_41960364insG	ENST00000269095.4	-	5	664_665	c.360_361insC	c.(358-363)ccgcccfs	p.P121fs	MPP2_ENST00000518766.1_Frame_Shift_Ins_p.P166fs|MPP2_ENST00000461854.1_Frame_Shift_Ins_p.P145fs|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000377184.3_Frame_Shift_Ins_p.P138fs|MPP2_ENST00000536246.1_Frame_Shift_Ins_p.P110fs|MPP2_ENST00000523501.1_Frame_Shift_Ins_p.P110fs|MPP2_ENST00000520305.1_5'UTR	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	145	L27 2.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AGGCCAGGGCTGGGGGGTGGTG	0.624													7	185	---	---	---	---					
HDAC5	10014	broad.mit.edu	37	17	42157800	42157801	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:42157800_42157801insG	ENST00000225983.6	-	22	3119_3120	c.2796_2797insC	c.(2794-2799)ccttggfs	p.W933fs	HDAC5_ENST00000586802.1_Frame_Shift_Ins_p.W932fs|HDAC5_ENST00000336057.5_Frame_Shift_Ins_p.W847fs|HDAC5_ENST00000393622.2_Frame_Shift_Ins_p.W932fs			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	932	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		ACGTCTCCAATGGGGGGGTCCA	0.609													14	564	---	---	---	---					
C17orf53	78995	broad.mit.edu	37	17	42225891	42225892	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:42225891_42225892insC	ENST00000319977.4	+	3	957_958	c.720_721insC	c.(718-723)cgccccfs	p.RP240fs	C17orf53_ENST00000585683.1_Frame_Shift_Ins_p.RP240fs|C17orf53_ENST00000245382.6_Frame_Shift_Ins_p.RP240fs	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	240										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGACTCCACGACCCCCCTTGAG	0.574													8	916	---	---	---	---					
GPATCH8	23131	broad.mit.edu	37	17	42475936	42475937	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:42475936_42475937insC	ENST00000434000.1	-	9	3556_3557	c.3274_3275insG	c.(3274-3276)agafs	p.R1092fs	GPATCH8_ENST00000591680.1_Frame_Shift_Ins_p.R1170fs			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1170						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TTCTTGCTCTTCCCCCCTTTCC	0.525													7	752	---	---	---	---					
GPATCH8	23131	broad.mit.edu	37	17	42478248	42478249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:42478248_42478249insG	ENST00000434000.1	-	9	1244_1245	c.962_963insC	c.(961-963)cgcfs	p.R321fs	GPATCH8_ENST00000591680.1_Frame_Shift_Ins_p.R399fs			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	399						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGCAGTGTGCTGGGGGGATGTA	0.441											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	953	---	---	---	---					
MAP3K14	9020	broad.mit.edu	37	17	43350838	43350839	+	RNA	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:43350838_43350839insG	ENST00000344686.2	-	0	1763							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATGAATGCATTGGGGGGCACGG	0.554													13	431	---	---	---	---					
MAPT	4137	broad.mit.edu	37	17	44039780	44039781	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:44039780_44039781insG	ENST00000344290.5	+	2	399_400	c.77_78insG	c.(76-78)cggfs	p.R26fs	MAPT_ENST00000571987.1_Frame_Shift_Ins_p.R26fs|MAPT_ENST00000574436.1_Frame_Shift_Ins_p.R26fs|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000334239.8_Frame_Shift_Ins_p.R26fs|MAPT_ENST00000535772.1_Frame_Shift_Ins_p.R26fs|MAPT_ENST00000446361.3_Frame_Shift_Ins_p.R26fs|MAPT_ENST00000262410.5_Frame_Shift_Ins_p.R26fs|MAPT_ENST00000431008.3_Frame_Shift_Ins_p.R26fs|MAPT_ENST00000420682.2_Frame_Shift_Ins_p.R26fs|MAPT_ENST00000415613.2_Frame_Shift_Ins_p.R26fs|MAPT_ENST00000351559.5_Frame_Shift_Ins_p.R26fs|MAPT_ENST00000347967.5_5'UTR|MAPT_ENST00000340799.5_Frame_Shift_Ins_p.R26fs	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	26					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				AGGAAAGATCAGGGGGGCTACA	0.589													9	517	---	---	---	---					
KPNB1	3837	broad.mit.edu	37	17	45754489	45754490	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:45754489_45754490insG	ENST00000290158.4	+	17	2506_2507	c.2099_2100insG	c.(2098-2100)tggfs	p.W700fs	KPNB1_ENST00000540627.1_Frame_Shift_Ins_p.W555fs|KPNB1_ENST00000537679.1_Frame_Shift_Ins_p.W484fs|KPNB1_ENST00000535458.2_Frame_Shift_Ins_p.W555fs	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	700					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						CTGGAAAATTTGGGGGTGAGTA	0.470													10	540	---	---	---	---					
OSBPL7	114881	broad.mit.edu	37	17	45886342	45886343	+	Frame_Shift_Ins	INS	-	-	G	rs143462261		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:45886342_45886343insG	ENST00000007414.3	-	21	2375_2376	c.2184_2185insC	c.(2182-2187)ccaccafs	p.P729fs	OSBPL7_ENST00000392507.3_Frame_Shift_Ins_p.P729fs	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	729					lipid transport		lipid binding	p.D729fs*3(1)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CGCTCATGGTCGGGGGGCATTG	0.619													15	758	---	---	---	---					
MRPL10	124995	broad.mit.edu	37	17	45905873	45905874	+	Frame_Shift_Ins	INS	-	-	G	rs147331240		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:45905873_45905874insG	ENST00000290208.7	-	2	697_698	c.245_246insC	c.(244-246)ccafs	p.P82fs	MRPL10_ENST00000351111.2_Frame_Shift_Ins_p.P72fs|MRPL10_ENST00000414011.1_Frame_Shift_Ins_p.P82fs			Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	72					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						TTACCTCCTGTGGGGGGCTGGG	0.525													8	501	---	---	---	---					
SCRN2	90507	broad.mit.edu	37	17	45916928	45916929	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:45916928_45916929insC	ENST00000407215.3	-	4	518_519	c.437_438insG	c.(436-438)gaafs	p.E146fs	SCRN2_ENST00000584123.1_Frame_Shift_Ins_p.E154fs|SCRN2_ENST00000290216.9_Frame_Shift_Ins_p.E146fs			Q96FV2	SCRN2_HUMAN	secernin 2	146					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CCAGGCAGTTGCCCCCCTGCCC	0.619													7	1089	---	---	---	---					
SP2	6668	broad.mit.edu	37	17	45994141	45994142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:45994141_45994142insC	ENST00000376741.4	+	3	841_842	c.704_705insC	c.(703-705)accfs	p.T235fs	AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_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													8	434	---	---	---	---					
NFE2L1	4779	broad.mit.edu	37	17	46135997	46135998	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:46135997_46135998insG	ENST00000362042.3	+	6	1929_1930	c.1313_1314insG	c.(1312-1314)tggfs	p.W438fs	NFE2L1_ENST00000582155.1_Frame_Shift_Ins_p.W250fs|NFE2L1_ENST00000585291.1_Frame_Shift_Ins_p.W408fs|NFE2L1_ENST00000583378.1_Frame_Shift_Ins_p.W239fs|NFE2L1_ENST00000536222.1_Frame_Shift_Ins_p.W282fs|NFE2L1_ENST00000361665.3_Frame_Shift_Ins_p.W427fs|NFE2L1_ENST00000357480.5_Frame_Shift_Ins_p.W408fs	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	438					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCTGACCCTTTGGGGGGTCTGT	0.564													11	723	---	---	---	---					
PDK2	5164	broad.mit.edu	37	17	48186051	48186052	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:48186051_48186052insC	ENST00000503176.1	+	9	1098_1099	c.937_938insC	c.(937-939)cccfs	p.P313fs	PDK2_ENST00000007708.3_Frame_Shift_Ins_p.P249fs	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	313	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						CACAGCACCCACCCCCCAGCCT	0.609									Autosomal Dominant Polycystic Kidney Disease				8	258	---	---	---	---					
SPATA20	64847	broad.mit.edu	37	17	48631813	48631814	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:48631813_48631814insG	ENST00000006658.6	+	15	2277		c.e15+2		SPATA20_ENST00000393244.3_Splice_Site|SPATA20_ENST00000356488.4_Splice_Site|SPATA20_ENST00000511937.1_Splice_Site	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20						cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CTCAAGCAGGTGGGGGGTGAGG	0.668													7	551	---	---	---	---					
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs|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													51	2137	---	---	---	---					
EPX	8288	broad.mit.edu	37	17	56272510	56272511	+	Frame_Shift_Ins	INS	-	-	C	rs149721417	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:56272510_56272511insC	ENST00000225371.5	+	6	890_891	c.780_781insC	c.(778-783)ctccccfs	p.LP260fs		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	260					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						GCGCCCAGCTGCCCCCCTGCTT	0.629													14	577	---	---	---	---					
MTMR4	9110	broad.mit.edu	37	17	56590245	56590246	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													86	1525	---	---	---	---					
MTMR4	9110	broad.mit.edu	37	17	56590284	56590285	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:56590284_56590285insG	ENST00000323456.5	-	3	145_146	c.21_22insC	c.(19-24)ccgcctfs	p.P8fs	MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.P8fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	8						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TACTCCAGGCTGGGGGGCCCCT	0.559													7	1500	---	---	---	---					
MARCH10	162333	broad.mit.edu	37	17	60814265	60814266	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:60814265_60814266insC	ENST00000544856.2	-	7	1338_1339	c.960_961insG	c.(958-963)ggcatcfs	p.I321fs	MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs|MARCH10_ENST00000456609.2_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													11	1482	---	---	---	---					
SCN4A	6329	broad.mit.edu	37	17	62049212	62049213	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:62049212_62049213insG	ENST00000435607.1	-	4	559		c.e4-2		SCN4A_ENST00000578147.1_Splice_Site	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit						muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AAGGTGTACCTGGGGGGGAGAG	0.589													10	250	---	---	---	---					
AXIN2	8313	broad.mit.edu	37	17	63532584	63532585	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:63532584_63532585insC	ENST00000307078.5	-	8	2307_2308	c.1994_1995insG	c.(1993-1995)gaafs	p.E665fs	AXIN2_ENST00000375702.5_Frame_Shift_Ins_p.E600fs	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	665					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GCCCGCTGTTGCCCCCCCACAG	0.658									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				21	218	---	---	---	---					
SLC16A6	9120	broad.mit.edu	37	17	66270149	66270150	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:66270149_66270150insC	ENST00000327268.4	-	4	458_459	c.294_295insG	c.(292-297)ggtactfs	p.T99fs	SLC16A6_ENST00000580666.1_Frame_Shift_Ins_p.T99fs|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	99						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CTGACAAGTAGCCCCCCCAACA	0.535													11	176	---	---	---	---					
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													31	1239	---	---	---	---					
KCNJ16	3773	broad.mit.edu	37	17	68129234	68129235	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:68129234_68129235insC	ENST00000585558.1	+	4	1499_1500	c.1111_1112insC	c.(1111-1113)cccfs	p.P371fs	KCNJ16_ENST00000283936.1_Frame_Shift_Ins_p.P336fs|KCNJ16_ENST00000586462.1_Frame_Shift_Ins_p.P375fs|KCNJ16_ENST00000392670.1_Frame_Shift_Ins_p.P336fs|KCNJ16_ENST00000589377.1_Frame_Shift_Ins_p.P336fs|KCNJ16_ENST00000392671.1_Frame_Shift_Ins_p.P336fs			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	336					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					GGAAGTATATGCCCCCTTTTGC	0.460													8	838	---	---	---	---					
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:71223356_71223357insG	ENST00000405159.3	-	2	332_333	c.268_269insC	c.(268-270)gacfs	p.D90fs	FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000583178.1_5'UTR	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													20	351	---	---	---	---					
FAM104A	84923	broad.mit.edu	37	17	71228436	71228437	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:71228436_71228437insC	ENST00000405159.3	-	1	73_74	c.9_10insG	c.(7-12)gggcggfs	p.R4fs	FAM104A_ENST00000581110.1_Frame_Shift_Ins_p.R4fs|FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.R4fs|FAM104A_ENST00000583024.1_Frame_Shift_Ins_p.R4fs|C17orf80_ENST00000255557.4_5'UTR|FAM104A_ENST00000583178.1_Intron	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	4								p.R4fs*8(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTGCTCCGCGCCCCCCCATGT	0.723													9	61	---	---	---	---					
RPL38	6169	broad.mit.edu	37	17	72205441	72205442	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:72205441_72205442insC	ENST00000311111.6	+	4	311_312	c.180_181insC	c.(178-183)ctccccfs	p.LP60fs	RPL38_ENST00000534490.1_Frame_Shift_Ins_p.LP60fs|RPL38_ENST00000584577.1_Frame_Shift_Ins_p.LP60fs|RPL38_ENST00000439590.2_Frame_Shift_Ins_p.LP60fs|RPL38_ENST00000533498.1_Frame_Shift_Ins_p.LP60fs			P63173	RL38_HUMAN	ribosomal protein L38	60					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			large_intestine(1)|pancreas(1)	2						AGCAGTCCCTGCCCCCCGGTGA	0.490													8	444	---	---	---	---					
DNAI2	64446	broad.mit.edu	37	17	72277937	72277938	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:72277937_72277938insC	ENST00000579490.1	+	1	287_288	c.152_153insC	c.(151-153)tccfs	p.S51fs	DNAI2_ENST00000446837.2_5'UTR|DNAI2_ENST00000582036.1_Intron|DNAI2_ENST00000307504.5_Intron|DNAI2_ENST00000311014.6_Intron			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	0					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCCTCCCTCTGCCCCCCAGCAG	0.629									Kartagener syndrome				7	532	---	---	---	---					
GRB2	2885	broad.mit.edu	37	17	73316466	73316467	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:73316466_73316467insG	ENST00000392562.1	-	6	1418_1419	c.636_637insC	c.(634-639)cctgaafs	p.E213fs	GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000578961.1_Frame_Shift_Ins_p.L156fs|GRB2_ENST00000392563.1_Frame_Shift_Ins_p.E172fs|GRB2_ENST00000316804.5_Frame_Shift_Ins_p.E213fs|GRB2_ENST00000392564.1_Frame_Shift_Ins_p.E213fs|GRB2_ENST00000316615.5_Frame_Shift_Ins_p.E172fs			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	213	SH3 2.				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	p.P212P(2)		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)	TTCCGGTTCACGGGGGTGACAT	0.455													8	2206	---	---	---	---					
GRB2	2885	broad.mit.edu	37	17	73389642	73389643	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:73389642_73389643insC	ENST00000392562.1	-	2	849_850	c.67_68insG	c.(67-69)catfs	p.H23fs	GRB2_ENST00000578961.1_Frame_Shift_Ins_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			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													45	3167	---	---	---	---					
EXOC7	23265	broad.mit.edu	37	17	74087246	74087247	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:74087246_74087247insC	ENST00000607838.1	-	7	972_973	c.878_879insG	c.(877-879)gtcfs	p.V293fs	EXOC7_ENST00000332065.5_Intron|EXOC7_ENST00000335146.7_Frame_Shift_Ins_p.V293fs|EXOC7_ENST00000411744.2_Intron|EXOC7_ENST00000467929.2_Frame_Shift_Ins_p.V252fs|EXOC7_ENST00000405575.4_Frame_Shift_Ins_p.V293fs|EXOC7_ENST00000589210.1_Frame_Shift_Ins_p.V293fs	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	293					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TGAGGTTAGAGCCCCCCTTTTT	0.554													14	557	---	---	---	---					
DNAH17	8632	broad.mit.edu	37	17	76482386	76482387	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:76482386_76482387insG	ENST00000389840.5	-	45	7102_7103	c.6978_6979insC	c.(6976-6981)ccactcfs	p.L2327fs	DNAH17_ENST00000586052.1_5'UTR|RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Frame_Shift_Ins_p.L2336fs					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTGGGGGAGTCGGGGGGCACGG	0.614													8	315	---	---	---	---					
USP36	57602	broad.mit.edu	37	17	76798482	76798483	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:76798482_76798483delCT	ENST00000312010.6	-	17	3269_3270	c.2945_2946delAG	c.(2944-2946)afs	p.K982fs	USP36_ENST00000449938.2_Frame_Shift_Del_p.K587fs|USP36_ENST00000542802.2_Frame_Shift_Del_p.K982fs	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	980					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CATCTTGGGGCTTGGCACTCCT	0.569													9	39	---	---	---	---					
USP36	57602	broad.mit.edu	37	17	76814760	76814761	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:76814760_76814761insC	ENST00000312010.6	-	10	1335_1336	c.1011_1012insG	c.(1009-1014)ggagatfs	p.D338fs	USP36_ENST00000449938.2_Frame_Shift_Ins_p.D38fs|USP36_ENST00000542802.2_Frame_Shift_Ins_p.D338fs|USP36_ENST00000588467.1_5'UTR	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	338					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TTGGTGATCTTCCCCCCGCTGA	0.540													13	454	---	---	---	---					
HEXDC	284004	broad.mit.edu	37	17	80400207	80400208	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:80400207_80400208insC	ENST00000337014.6	+	12	1971_1972	c.1497_1498insC	c.(1495-1500)ctccccfs	p.LP499fs	HEXDC_ENST00000577944.1_Frame_Shift_Ins_p.S472fs|HEXDC_ENST00000327949.9_Frame_Shift_Ins_p.P470fs	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	0					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CGAGGTGTCTGCCCCCCCGCTG	0.688													9	23	---	---	---	---					
LDLRAD4	753	broad.mit.edu	37	18	13645488	13645489	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr18:13645488_13645489insC	ENST00000361205.4	+	7	1421_1422	c.753_754insC	c.(751-756)ccccccfs	p.PP251fs	LDLRAD4_ENST00000586765.1_Frame_Shift_Ins_p.PP196fs|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000359446.5_Frame_Shift_Ins_p.PP251fs|LDLRAD4_ENST00000399848.3_Frame_Shift_Ins_p.PP233fs|LDLRAD4_ENST00000592991.1_Frame_Shift_Ins_p.PP153fs|LDLRAD4_ENST00000587757.1_Frame_Shift_Ins_p.PP214fs|LDLRAD4_ENST00000585931.1_Frame_Shift_Ins_p.PP174fs	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4																		TGGAGGGGCCACCCCCCACATA	0.604													12	331	---	---	---	---					
ZBTB7C	201501	broad.mit.edu	37	18	45567075	45567076	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr18:45567075_45567076insC	ENST00000588982.1	-	3	904_905	c.403_404insG	c.(403-405)ggafs	p.G135fs	ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.G135fs			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	135	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						gtcatcctcctcccccccgtcc	0.574													30	551	---	---	---	---					
DCC	1630	broad.mit.edu	37	18	50976891	50976892	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr18:50976891_50976892insC	ENST00000442544.2	+	23	3867_3868	c.3251_3252insC	c.(3250-3252)cccfs	p.P1084fs	DCC_ENST00000581580.1_Frame_Shift_Ins_p.P719fs	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1084					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGACAAATGCACCCCCCGCATG	0.495													7	258	---	---	---	---					
DCC	1630	broad.mit.edu	37	18	50994329	50994330	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr18:50994329_50994330insC	ENST00000442544.2	+	25	4301_4302	c.3685_3686insC	c.(3685-3687)cccfs	p.P1229fs	DCC_ENST00000581580.1_Frame_Shift_Ins_p.P864fs	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1229					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGCACGCCGAGCCCCCCGGGCC	0.510													9	265	---	---	---	---					
ZNF532	55205	broad.mit.edu	37	18	56586491	56586492	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr18:56586491_56586492insA	ENST00000336078.4	+	4	1748_1749	c.972_973insA	c.(970-975)acaaaafs	p.TK324fs	ZNF532_ENST00000591083.1_Frame_Shift_Ins_p.TK324fs|ZNF532_ENST00000591808.1_Frame_Shift_Ins_p.TK324fs|ZNF532_ENST00000591230.1_Frame_Shift_Ins_p.TK324fs|ZNF532_ENST00000589288.1_Frame_Shift_Ins_p.TK324fs	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TCGACGGGACCAAAAAACCATC	0.530													7	623	---	---	---	---					
ADAMTSL5	339366	broad.mit.edu	37	19	1510419	1510422	+	Frame_Shift_Del	DEL	CCAG	CCAG	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:1510419_1510422delCCAG	ENST00000330475.4	-	4	640_643	c.197_200delCTGG	c.(196-201)cgfs	p.PG66fs	ADAMTSL5_ENST00000395467.2_5'UTR|ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000413997.2_Frame_Shift_Del_p.PG76fs	NM_213604.2	NP_998769.2	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	66	TSP type-1.					proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGTTCTTCCCCAGGAAGCCTGAA	0.672													19	17	---	---	---	---					
UHRF1	29128	broad.mit.edu	37	19	4954444	4954445	+	RNA	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:4954444_4954445insG	ENST00000592666.1	+	0	2477_2478							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GAGCAGCAGGAGGGGGGCTTCG	0.624													8	700	---	---	---	---					
ZNRF4	148066	broad.mit.edu	37	19	5456524	5456525	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:5456524_5456525insA	ENST00000222033.4	+	1	1099_1100	c.1022_1023insA	c.(1021-1023)tcafs	p.S341fs		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	341						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CCCTGGTTCTCCCAAGCCCCCC	0.609													9	286	---	---	---	---					
ZNRF4	148066	broad.mit.edu	37	19	5456529	5456530	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:5456529_5456530insC	ENST00000222033.4	+	1	1104_1105	c.1027_1028insC	c.(1027-1029)cccfs	p.P343fs		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	343						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GTTCTCCCAAGCCCCCCGGCGC	0.609													7	281	---	---	---	---					
SAFB2	9667	broad.mit.edu	37	19	5590342	5590343	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:5590342_5590343insC	ENST00000252542.4	-	18	2735_2736	c.2471_2472insG	c.(2470-2472)gtafs	p.V824fs		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	824	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CGGAGCCGTAGCCCCCCCAGCC	0.688													8	93	---	---	---	---					
ACSBG2	81616	broad.mit.edu	37	19	6187325	6187326	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:6187325_6187326insC	ENST00000588304.1	+	12	1868_1869	c.1422_1423insC	c.(1420-1425)gtccccfs	p.VP474fs	ACSBG2_ENST00000588485.1_Frame_Shift_Ins_p.VP337fs|ACSBG2_ENST00000591403.1_Frame_Shift_Ins_p.VP524fs|ACSBG2_ENST00000252669.5_Frame_Shift_Ins_p.VP524fs|ACSBG2_ENST00000586696.1_Frame_Shift_Ins_p.VP524fs|ACSBG2_ENST00000591741.1_3'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	524					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGAAAATGTGCCCCCCATTCC	0.480													8	570	---	---	---	---					
SLC25A23	79085	broad.mit.edu	37	19	6454101	6454102	+	Splice_Site	DEL	TG	TG	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:6454101_6454102delTG	ENST00000301454.4	-	7	902		c.e7-2		SLC25A23_ENST00000414491.2_Splice_Site|SLC25A23_ENST00000334510.5_Splice_Site	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23						transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						CCTCTTGATCTGAGGCGGGGAG	0.589													13	49	---	---	---	---					
TUBB4A	10382	broad.mit.edu	37	19	6496087	6496088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:6496087_6496088insC	ENST00000264071.2	-	4	793_794	c.422_423insG	c.(421-423)gggfs	p.G141fs	TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000540257.1_Frame_Shift_Ins_p.G141fs|TUBB4A_ENST00000598006.1_3'UTR			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	141					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										ACCCCGTGCCACCCCCCAGCGA	0.649													9	459	---	---	---	---					
C3	718	broad.mit.edu	37	19	6697480	6697481	+	Frame_Shift_Ins	INS	-	-	G	rs137956083		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:6697480_6697481insG	ENST00000245907.6	-	21	2762_2763	c.2670_2671insC	c.(2668-2673)ccagtcfs	p.V891fs		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	891					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AACGAGGACTTGGGGGGGATGG	0.574													27	448	---	---	---	---					
RETN	56729	broad.mit.edu	37	19	7734757	7734758	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:7734757_7734758insG	ENST00000221515.2	+	3	257_258	c.169_170insG	c.(169-171)gggfs	p.G57fs	RETN_ENST00000381324.2_Intron	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN	resistin	57							hormone activity			ovary(1)	1						CGTCACCTCCAGGGGGGACCTG	0.624													7	265	---	---	---	---					
CD209	30835	broad.mit.edu	37	19	7807934	7807935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:7807934_7807935insG	ENST00000315599.7	-	7	1227_1228	c.1205_1206insC	c.(1204-1206)cccfs	p.P402fs	CD209_ENST00000593821.1_Frame_Shift_Ins_p.P266fs|CD209_ENST00000593660.1_Frame_Shift_Ins_p.P332fs|CD209_ENST00000394173.4_Frame_Shift_Ins_p.P241fs|CD209_ENST00000204801.8_Frame_Shift_Ins_p.P358fs|CD209_ENST00000301357.8_Frame_Shift_Ins_p.P266fs|CD209_ENST00000602261.1_Frame_Shift_Ins_p.P310fs|CD209_ENST00000315591.8_Frame_Shift_Ins_p.P378fs|CD209_ENST00000601951.1_Frame_Shift_Ins_p.P378fs|CD209_ENST00000394161.5_Frame_Shift_Ins_p.P166fs|CD209_ENST00000354397.6_Frame_Shift_Ins_p.P396fs	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	402					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			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCTACGCAGGAGGGGGGTTTGG	0.500													11	734	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													22	532	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9076019	9076020	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:9076019_9076020insT	ENST00000397910.4	-	3	11629_11630	c.11426_11427insA	c.(11425-11427)agcfs	p.S3809fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3810	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						TCTGCTCTGCCTTTTTGCTTGT	0.520													9	2410	---	---	---	---					
C3P1	388503	broad.mit.edu	37	19	10160752	10160753	+	RNA	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:10160752_10160753insC	ENST00000495140.1	+	0	1411																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TAGTGGTCGTGCCCCCCACCTC	0.599													11	951	---	---	---	---					
ANGPTL6	83854	broad.mit.edu	37	19	10204185	10204186	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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	80	---	---	---	---					
ICAM1	3383	broad.mit.edu	37	19	10395790	10395791	+	Splice_Site	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:10395790_10395791insC	ENST00000264832.3	+	7	1751_1752		c.e7-1		ICAM1_ENST00000423829.2_Splice_Site	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1						adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CCTCCCCACAGCCCCCCGGTAT	0.599													10	447	---	---	---	---					
ZNF878	729747	broad.mit.edu	37	19	12155624	12155625	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:12155624_12155625insT	ENST00000602107.1	-	5	731_732	c.732_733insA	c.(730-735)aacctafs	p.NL244fs	CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL197fs|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron			C9JN71	ZN878_HUMAN	zinc finger protein 878	197					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	0.396													27	779	---	---	---	---					
ZNF44	51710	broad.mit.edu	37	19	12384201	12384202	+	In_Frame_Ins	INS	-	-	GAC			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:12384201_12384202insGAC	ENST00000356109.5	-	5	1130_1131	c.1012_1013insGTC	c.(1012-1014)cag>GTCcag	p.337_338insV	ZNF44_ENST00000355684.5_In_Frame_Ins_p.289_290insV	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		GGAAACACTGAAGGCTTTCCCA	0.421													9	224	---	---	---	---					
DHPS	1725	broad.mit.edu	37	19	12787958	12787959	+	Frame_Shift_Ins	INS	-	-	C	rs144283239		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:12787958_12787959insC	ENST00000210060.7	-	7	986_987	c.851_852insG	c.(850-852)ggtfs	p.G284fs	DHPS_ENST00000351660.5_Intron|DHPS_ENST00000594424.1_Frame_Shift_Ins_p.G242fs	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	284					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8					Sulfadoxine(DB01299)	GCTTGACCACGCCCCCGCCCAG	0.599													7	446	---	---	---	---					
GCDH	2639	broad.mit.edu	37	19	13008600	13008601	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:13008600_13008601insG	ENST00000222214.5	+	11	1377_1378	c.1166_1167insG	c.(1165-1167)cggfs	p.R389fs	GCDH_ENST00000422947.2_Frame_Shift_Ins_p.R345fs|GCDH_ENST00000457854.1_Frame_Shift_Ins_p.R389fs|GCDH_ENST00000591470.1_Frame_Shift_Ins_p.R389fs			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	389					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						CGAGACATGCTGGGGGGGAATG	0.599													7	178	---	---	---	---					
MRI1	84245	broad.mit.edu	37	19	13882967	13882968	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:13882967_13882968insC	ENST00000319545.8	+	6	898_899	c.841_842insC	c.(841-843)cccfs	p.P281fs	CTB-5E10.3_ENST00000586894.1_RNA|MRI1_ENST00000040663.6_Frame_Shift_Ins_p.P328fs	NM_032285.2	NP_115661.1	Q9BV20	MTNA_HUMAN	methylthioribose-1-phosphate isomerase 1	328					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						CTTCGATGTCACCCCCCACGAC	0.554													7	515	---	---	---	---					
GIPC1	10755	broad.mit.edu	37	19	14591534	14591535	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:14591534_14591535insC	ENST00000393033.4	-	5	613_614	c.344_345insG	c.(343-345)gcafs	p.A115fs	GIPC1_ENST00000586027.1_Frame_Shift_Ins_p.A115fs|GIPC1_ENST00000591349.1_Frame_Shift_Ins_p.A18fs|GIPC1_ENST00000345425.2_Frame_Shift_Ins_p.A115fs|GIPC1_ENST00000393028.1_Frame_Shift_Ins_p.A18fs|GIPC1_ENST00000393029.3_Frame_Shift_Ins_p.A18fs	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	115					endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GCCCGATCTGGCCCCCCAGGAG	0.624											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	317	---	---	---	---					
CYP4F2	8529	broad.mit.edu	37	19	16006366	16006367	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:16006366_16006367insG	ENST00000221700.5	-	3	387_388	c.292_293insC	c.(292-294)cctfs	p.P98fs	CYP4F2_ENST00000011989.7_Intron|CYP4F2_ENST00000592328.1_Intron	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	98					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						CAAACTGAGGAGGGGGGAGATG	0.594													16	516	---	---	---	---					
CIB3	117286	broad.mit.edu	37	19	16275654	16275655	+	Frame_Shift_Ins	INS	-	-	T	rs6512087	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:16275654_16275655insT	ENST00000269878.4	-	5	465_466	c.416_417insA	c.(415-417)gctfs	p.A139fs	CIB3_ENST00000379859.3_Frame_Shift_Ins_p.A90fs|CIB3_ENST00000541493.1_5'UTR	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	139			G -> E (in dbSNP:rs6512087).				calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						CGGCACTCAGCCCCCCCCGCGT	0.569													25	915	---	---	---	---					
AP1M1	8907	broad.mit.edu	37	19	16318927	16318928	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:16318927_16318928insC	ENST00000291439.3	+	4	814_815	c.365_366insC	c.(364-366)tccfs	p.S122fs	AP1M1_ENST00000541844.1_Frame_Shift_Ins_p.S50fs|AP1M1_ENST00000429941.2_Frame_Shift_Ins_p.S122fs|AP1M1_ENST00000444449.2_Frame_Shift_Ins_p.S122fs|AP1M1_ENST00000590756.1_Frame_Shift_Ins_p.S50fs	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	122					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						GACTTCGGCTACCCCCAGACCA	0.594													7	484	---	---	---	---					
NWD1	284434	broad.mit.edu	37	19	16860826	16860827	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:16860826_16860827insC	ENST00000524140.2	+	6	1791_1792	c.1373_1374insC	c.(1372-1374)tccfs	p.S458fs	NWD1_ENST00000552788.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000549814.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000523826.1_Frame_Shift_Ins_p.S252fs|NWD1_ENST00000379808.3_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000339803.6_Frame_Shift_Ins_p.S323fs	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	458	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCTCTCAACTGCCCCCCGAGGG	0.629													10	341	---	---	---	---					
CPAMD8	27151	broad.mit.edu	37	19	17039883	17039884	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													17	231	---	---	---	---					
OCEL1	79629	broad.mit.edu	37	19	17337839	17337840	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:17337839_17337840insC	ENST00000215061.4	+	3	327_328	c.283_284insC	c.(283-285)cccfs	p.P95fs	OCEL1_ENST00000597836.1_Frame_Shift_Ins_p.P39fs|OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000601529.1_Frame_Shift_Ins_p.P95fs	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	95	Pro-rich.									central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						CAAAACCAGCGCCCCCCGCCCT	0.639													12	410	---	---	---	---					
FCHO1	23149	broad.mit.edu	37	19	17893823	17893827	+	Splice_Site	DEL	TAGCT	TAGCT	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:17893823_17893827delTAGCT	ENST00000594202.1	+	24	2216_2218	c.1937_splice	c.e24-1	p.T646_splice	FCHO1_ENST00000389133.4_Splice_Site_p.T646_splice|FCHO1_ENST00000252771.7_Splice_Site_p.T646_splice|FCHO1_ENST00000600676.1_Splice_Site_p.T646_splice|FCHO1_ENST00000596951.1_Splice_Site_p.T646_splice|FCHO1_ENST00000595033.1_Splice_Site_p.T596_splice|FCHO1_ENST00000596536.1_Splice_Site_p.T646_splice|FCHO1_ENST00000597512.1_Splice_Site_p.T653_splice|FCHO1_ENST00000539407.1_Splice_Site_p.T646_splice	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	646										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TCATCCTCCCTAGCTGCCTGGCTCG	0.620													40	290	---	---	---	---					
GMIP	51291	broad.mit.edu	37	19	19753418	19753419	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:19753418_19753419insG	ENST00000203556.4	-	2	166_167	c.29_30insC	c.(28-30)cggfs	p.R10fs	GMIP_ENST00000445806.2_Frame_Shift_Ins_p.R10fs|GMIP_ENST00000587238.1_Frame_Shift_Ins_p.R10fs	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	10					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCTCAGGACCTGGGGGGAGTCC	0.589													9	409	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769061	31769062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													36	434	---	---	---	---					
LRP3	4037	broad.mit.edu	37	19	33698167	33698167	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:33698167delC	ENST00000253193.7	+	7	2201	c.1999delC	c.(1999-2001)ccfs	p.P668fs		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	668					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CGGAGACAGGCCCCCCAGTGC	0.731													4	9	---	---	---	---					
SLC7A10	56301	broad.mit.edu	37	19	33703793	33703794	+	Frame_Shift_Ins	INS	-	-	G	rs143654746	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:33703793_33703794insG	ENST00000253188.3	-	3	617_618	c.471_472insC	c.(469-474)ccccacfs	p.H158fs		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	158					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GAGGCTGTGGTGGGGGGGATGC	0.639													11	145	---	---	---	---					
CEBPG	1054	broad.mit.edu	37	19	33870210	33870211	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:33870210_33870211insT	ENST00000284000.3	+	2	727_728	c.65_66insT	c.(64-66)cgcfs	p.R22fs		NM_001252296.1|NM_001806.3	NP_001239225.1|NP_001797.1	P53567	CEBPG_HUMAN	CCAAT/enhancer binding protein (C/EBP), gamma	22					B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	7	Esophageal squamous(110;0.137)					ATCCATACCCAGGCACATGCCA	0.550													9	143	---	---	---	---					
GPI	2821	broad.mit.edu	37	19	34887281	34887282	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:34887281_34887282insG	ENST00000415930.3	+	13	1341_1342	c.1171_1172insG	c.(1171-1173)gggfs	p.G391fs	GPI_ENST00000586425.1_Frame_Shift_Ins_p.G380fs|GPI_ENST00000356487.5_Frame_Shift_Ins_p.G380fs	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	380					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					CCCCATTGTGTGGGGGGAGCCA	0.564													10	821	---	---	---	---					
RYR1	6261	broad.mit.edu	37	19	39025414	39025415	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:39025414_39025415insG	ENST00000355481.4	+	78	11430_11431	c.11299_11300insG	c.(11299-11301)gggfs	p.G3767fs	RYR1_ENST00000360985.3_Frame_Shift_Ins_p.G3772fs|RYR1_ENST00000359596.3_Frame_Shift_Ins_p.G3772fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3772					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCTGCACACCCGGGGGGCGGCC	0.589													11	197	---	---	---	---					
FBL	2091	broad.mit.edu	37	19	40325192	40325193	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:40325192_40325193insG	ENST00000221801.3	-	9	1064_1065	c.951_952insC	c.(949-954)ccaggtfs	p.G318fs	FBL_ENST00000593503.1_5'UTR	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	318					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TTCTTCACCTTGGGGGGTGGCC	0.505													7	512	---	---	---	---					
HIPK4	147746	broad.mit.edu	37	19	40886757	40886758	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													9	831	---	---	---	---					
CCDC97	90324	broad.mit.edu	37	19	41825477	41825478	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:41825477_41825478insG	ENST00000269967.3	+	3	624		c.e3-1			NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97											biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						TCCTCTGTGCAGGGGGCGAGTA	0.574													10	1598	---	---	---	---					
CCDC97	90324	broad.mit.edu	37	19	41825517	41825518	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													15	1754	---	---	---	---					
ATP1A3	478	broad.mit.edu	37	19	42482884	42482885	+	Frame_Shift_Ins	INS	-	-	G	rs143904999		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:42482884_42482885insG	ENST00000545399.1	-	12	1695_1696	c.1542_1543insC	c.(1540-1545)ccagcgfs	p.A515fs	ATP1A3_ENST00000302102.5_Frame_Shift_Ins_p.A502fs|ATP1A3_ENST00000602133.1_Frame_Shift_Ins_p.A472fs|ATP1A3_ENST00000543770.1_Frame_Shift_Ins_p.A513fs	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	502					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGGATGCGCTCGGGGGCACCCT	0.614													11	1704	---	---	---	---					
TMEM145	284339	broad.mit.edu	37	19	42827922	42827923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:42827922_42827923insC	ENST00000301204.3	+	14	1423_1424	c.1382_1383insC	c.(1381-1383)accfs	p.T461fs		NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	461						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CTCTTCTCCATCCCCCCGCCCG	0.708													8	325	---	---	---	---					
MEGF8	1954	broad.mit.edu	37	19	42866542	42866543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													13	454	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515													16	1118	---	---	---	---					
BCAM	4059	broad.mit.edu	37	19	45322439	45322440	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:45322439_45322440insG	ENST00000391955.1	+	11	1507_1508	c.1463_1464insG	c.(1462-1464)tggfs	p.W488fs	BCAM_ENST00000270233.6_Frame_Shift_Ins_p.W488fs			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	488	Ig-like C2-type 3.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TGGAGCCAATTGGGGGGCAGCG	0.594													8	202	---	---	---	---					
EML2	24139	broad.mit.edu	37	19	46127998	46127999	+	Frame_Shift_Ins	INS	-	-	C	rs36013288	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:46127998_46127999insC	ENST00000536630.1	-	12	1398_1399	c.1260_1261insG	c.(1258-1263)ggacctfs	p.P421fs	EML2_ENST00000587152.1_Frame_Shift_Ins_p.P475fs|EML2_ENST00000245925.3_Frame_Shift_Ins_p.P274fs|EML2_ENST00000586902.1_5'UTR|EML2_ENST00000589876.1_Frame_Shift_Ins_p.P274fs	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	274				DPARSAGFH -> MAAAGHGDP (in Ref. 3; AAH32630).	sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		ACATAGAGGTTCCCCCCAGAGT	0.530													11	287	---	---	---	---					
MYPOP	339344	broad.mit.edu	37	19	46404595	46404597	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:46404595_46404597delGGC	ENST00000322217.5	-	2	521_523	c.435_437delGCC	c.(433-438)ccc>cc	p.PP145del		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	145	Pro-rich.					nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						GGCGCTTGGGGGCGGCGGCTGTG	0.685													12	4	---	---	---	---					
SLC8A2	6543	broad.mit.edu	37	19	47935586	47935587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:47935586_47935587insG	ENST00000236877.6	-	9	2621_2622	c.2226_2227insC	c.(2224-2229)ccccgafs	p.R743fs	SLC8A2_ENST00000539381.1_Frame_Shift_Ins_p.R206fs|SLC8A2_ENST00000542837.1_Frame_Shift_Ins_p.R499fs	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	743					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CAGTACTCGGTGGGGGGCACAC	0.649													13	665	---	---	---	---					
FAM83E	54854	broad.mit.edu	37	19	49107037	49107038	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													13	66	---	---	---	---					
PLEKHA4	57664	broad.mit.edu	37	19	49364680	49364681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:49364680_49364681insG	ENST00000263265.6	-	5	898_899	c.343_344insC	c.(343-345)aggfs	p.R115fs	PLEKHA4_ENST00000355496.5_Frame_Shift_Ins_p.R115fs	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	115	PH.					cytoplasm|membrane	1-phosphatidylinositol binding	p.R115R(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GCGCCGCCCTCGGGGGGCTCCC	0.604													9	362	---	---	---	---					
SLC17A7	57030	broad.mit.edu	37	19	49937127	49937128	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:49937127_49937128insG	ENST00000221485.3	-	7	896		c.e7-2		SLC17A7_ENST00000543531.1_Splice_Site|SLC17A7_ENST00000600601.1_Splice_Site	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7						glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CGAAGCTGCCTGGGGGGGTCAG	0.678													7	127	---	---	---	---					
CPT1C	126129	broad.mit.edu	37	19	50203963	50203964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:50203963_50203964insG	ENST00000392518.4	+	5	676_677	c.304_305insG	c.(304-306)gggfs	p.G102fs	CPT1C_ENST00000598293.1_Frame_Shift_Ins_p.G102fs|CPT1C_ENST00000323446.5_Frame_Shift_Ins_p.G102fs|CPT1C_ENST00000354199.5_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													11	691	---	---	---	---					
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:50243063_50243064insG	ENST00000246801.3	-	11	1830_1831	c.1748_1749insC	c.(1747-1749)caafs	p.Q583fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	583							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCCTGTTTTGGGGGGGTTCC	0.545													41	882	---	---	---	---					
TSKS	60385	broad.mit.edu	37	19	50243087	50243088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:50243087_50243088insC	ENST00000246801.3	-	11	1806_1807	c.1724_1725insG	c.(1723-1725)gggfs	p.G575fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.G375fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	575							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CACTGCTGCCTCCCCCCATTGT	0.554													12	1179	---	---	---	---					
NAPSA	9476	broad.mit.edu	37	19	50862305	50862306	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													13	217	---	---	---	---					
NAPSA	9476	broad.mit.edu	37	19	50863077	50863078	+	Frame_Shift_Ins	INS	-	-	C	rs140973133		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:50863077_50863078insC	ENST00000253719.2	-	6	918_919	c.710_711insG	c.(709-711)gtcfs	p.V237fs	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	237					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)		CCGGGTCCGAGCCCCCCAGGAC	0.629													8	258	---	---	---	---					
POLD1	5424	broad.mit.edu	37	19	50905323	50905324	+	Frame_Shift_Ins	INS	-	-	G	rs140707092		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:50905323_50905324insG	ENST00000440232.2	+	5	584_585	c.531_532insG	c.(529-534)cgggggfs	p.RG177fs	POLD1_ENST00000599857.1_Frame_Shift_Ins_p.RG177fs|POLD1_ENST00000595904.1_Frame_Shift_Ins_p.RG177fs	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	177			R -> H (in dbSNP:rs3218750).		base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	p.R177R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGGACAGTCGCGGGGGGAGGGA	0.673								DNA polymerases (catalytic subunits)					8	313	---	---	---	---					
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													21	431	---	---	---	---					
ZNF175	7728	broad.mit.edu	37	19	52090436	52090437	+	Frame_Shift_Ins	INS	-	-	G	rs138396190		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													10	764	---	---	---	---					
ZNF347	84671	broad.mit.edu	37	19	53643875	53643876	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:53643875_53643876insT	ENST00000452676.2	-	5	2634_2635	c.2208_2209insA	c.(2206-2211)aacttafs	p.N736fs	ZNF347_ENST00000334197.7_Frame_Shift_Ins_p.N735fs|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Frame_Shift_Ins_p.N736fs	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	735					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)		CATTTGTAAGGTTTTTTTCCAG	0.421													13	1336	---	---	---	---					
CNOT3	4849	broad.mit.edu	37	19	54649666	54649667	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:54649666_54649667insC	ENST00000406403.1	+	8	2327_2328	c.724_725insC	c.(724-726)cccfs	p.P242fs	CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.P242fs|CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.P61fs			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	242					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGTCGCCACCTCCCCTCCCAGC	0.644													19	285	---	---	---	---					
SYT5	6861	broad.mit.edu	37	19	55686684	55686685	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:55686684_55686685insC	ENST00000354308.3	-	6	932_933	c.563_564insG	c.(562-564)gagfs	p.E188fs	SYT5_ENST00000537500.1_Frame_Shift_Ins_p.E188fs|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Frame_Shift_Ins_p.E185fs	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	188	C2 1.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCAGCACCCTGCCCCCCAGCTC	0.629													8	234	---	---	---	---					
NLRP9	338321	broad.mit.edu	37	19	56244406	56244406	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:56244406delT	ENST00000332836.2	-	2	818	c.791delA	c.(790-792)agfs	p.K264fs		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	264	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TGGAAGCATCTTTTTTTGCAA	0.413													9	235	---	---	---	---					
ZNF329	79673	broad.mit.edu	37	19	58639611	58639611	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:58639611delA	ENST00000598312.1	-	4	1493	c.1260delT	c.(1258-1260)atfs	p.I420fs	ZNF329_ENST00000358067.4_Frame_Shift_Del_p.I420fs	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		CGCCAGTATGAATCCTCTGAT	0.473													13	186	---	---	---	---					
PSMF1	9491	broad.mit.edu	37	20	1145690	1145691	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:1145690_1145691insC	ENST00000335877.6	+	7	958_959	c.782_783insC	c.(781-783)cccfs	p.P261fs	PSMF1_ENST00000381898.4_Intron|PSMF1_ENST00000246015.4_Intron|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000333082.3_Frame_Shift_Ins_p.P261fs|PSMF1_ENST00000438768.2_Intron	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	261	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CCAGACCATCTCCCCCCGCCGG	0.579													40	1338	---	---	---	---					
NSFL1C	55968	broad.mit.edu	37	20	1426464	1426465	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:1426464_1426465insG	ENST00000216879.4	-	8	1663_1664	c.796_797insC	c.(796-798)ggtfs	p.G266fs	NSFL1C_ENST00000476071.1_Frame_Shift_Ins_p.G268fs|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000381658.4_Frame_Shift_Ins_p.G155fs|NSFL1C_ENST00000350991.4_Frame_Shift_Ins_p.G268fs|NSFL1C_ENST00000353088.2_Frame_Shift_Ins_p.G235fs	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													9	550	---	---	---	---					
ATRN	8455	broad.mit.edu	37	20	3564725	3564726	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:3564725_3564726insC	ENST00000262919.5	+	17	3013_3014	c.2945_2946insC	c.(2944-2946)tccfs	p.S982fs	ATRN_ENST00000446916.2_Frame_Shift_Ins_p.S982fs	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	982	PSI 3.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						ATGAGCACCTGCCCCCGTAAGT	0.520													8	1530	---	---	---	---					
SMOX	54498	broad.mit.edu	37	20	4163027	4163028	+	Frame_Shift_Ins	INS	-	-	G	rs145014650	by1000genomes	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:4163027_4163028insG	ENST00000305958.4	+	5	1126_1127	c.901_902insG	c.(901-903)gggfs	p.G301fs	SMOX_ENST00000346595.2_Intron|SMOX_ENST00000379460.2_Frame_Shift_Ins_p.G301fs|SMOX_ENST00000278795.3_Intron|SMOX_ENST00000339123.6_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	138	---	---	---	---					
PAK7	57144	broad.mit.edu	37	20	9523310	9523311	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:9523310_9523311insG	ENST00000378429.3	-	10	2472_2473	c.1926_1927insC	c.(1924-1929)ccacttfs	p.L643fs	PAK7_ENST00000353224.5_Frame_Shift_Ins_p.L643fs|PAK7_ENST00000378423.1_Frame_Shift_Ins_p.L643fs	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	643	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TCATTGAAGTAGGGGGGCTCGC	0.530													7	296	---	---	---	---					
CST8	10047	broad.mit.edu	37	20	23472375	23472376	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:23472375_23472376insA	ENST00000246012.1	+	2	428_429	c.71_72insA	c.(70-72)caafs	p.Q24fs		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	24						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AGGAAAGACCCAAAAAAGAATG	0.540													8	404	---	---	---	---					
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													47	505	---	---	---	---					
CCM2L	140706	broad.mit.edu	37	20	30602811	30602812	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:30602811_30602812insC	ENST00000300415.8	+	2	148_149	c.135_136insC	c.(133-138)taccccfs	p.YP45fs	CCM2L_ENST00000262659.8_Frame_Shift_Ins_p.YP45fs					cerebral cavernous malformation 2-like																		TGCCCCTTTATCCCCCCGACTA	0.629													8	643	---	---	---	---					
ACSS2	55902	broad.mit.edu	37	20	33502205	33502206	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:33502205_33502206insC	ENST00000360596.2	+	7	1010_1011	c.799_800insC	c.(799-801)cccfs	p.P267fs	ACSS2_ENST00000253382.5_Frame_Shift_Ins_p.P267fs|ACSS2_ENST00000336325.4_Frame_Shift_Ins_p.P217fs|ACSS2_ENST00000476922.1_Intron	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	267					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)	CACCAGCCAGTCCCCCCCAATT	0.535													8	129	---	---	---	---					
ACSS2	55902	broad.mit.edu	37	20	33508359	33508360	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:33508359_33508360insG	ENST00000360596.2	+	9	1201_1202	c.990_991insG	c.(988-993)gtggggfs	p.VG330fs	ACSS2_ENST00000253382.5_Frame_Shift_Ins_p.VG343fs|ACSS2_ENST00000336325.4_Frame_Shift_Ins_p.VG280fs|ACSS2_ENST00000476922.1_Intron	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													7	1050	---	---	---	---					
CNBD2	140894	broad.mit.edu	37	20	34618503	34618504	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:34618503_34618504insC	ENST00000373973.3	+	12	1837_1838	c.1664_1665insC	c.(1663-1665)cccfs	p.P555fs	CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Frame_Shift_Ins_p.P551fs					cyclic nucleotide binding domain containing 2																		CAGAAATACCTCCCCCCATTGA	0.455													14	1230	---	---	---	---					
EPB41L1	2036	broad.mit.edu	37	20	34782216	34782217	+	Frame_Shift_Ins	INS	-	-	G	rs138944417		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:34782216_34782217insG	ENST00000338074.2	+	12	1544_1545	c.1383_1384insG	c.(1381-1386)tcggggfs	p.SG461fs	EPB41L1_ENST00000373941.1_Frame_Shift_Ins_p.SG461fs|EPB41L1_ENST00000441639.1_Frame_Shift_Ins_p.SG399fs|EPB41L1_ENST00000202028.5_Frame_Shift_Ins_p.SG399fs|EPB41L1_ENST00000373946.3_Frame_Shift_Ins_p.SG430fs|EPB41L1_ENST00000373950.2_Frame_Shift_Ins_p.SG364fs	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	461					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					ATGGCGAGTCTGGGGGGCAACG	0.594													10	400	---	---	---	---					
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)cccfs	p.P379fs	RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000537204.1_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													23	229	---	---	---	---					
DHX35	60625	broad.mit.edu	37	20	37650553	37650554	+	Frame_Shift_Ins	INS	-	-	C	rs142673637		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:37650553_37650554insC	ENST00000252011.3	+	16	1601_1602	c.1568_1569insC	c.(1567-1569)gccfs	p.A523fs	DHX35_ENST00000373325.2_Frame_Shift_Ins_p.A523fs|DHX35_ENST00000373323.4_Frame_Shift_Ins_p.A492fs	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	523						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				ATCTTTGTGGTCCCCCCAAACC	0.455													9	680	---	---	---	---					
ZHX3	23051	broad.mit.edu	37	20	39830891	39830892	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:39830891_39830892insC	ENST00000309060.3	-	4	3080_3081	c.2665_2666insG	c.(2665-2667)ggafs	p.G889fs	ZHX3_ENST00000540170.1_Frame_Shift_Ins_p.G889fs|ZHX3_ENST00000432768.2_Frame_Shift_Ins_p.G889fs|ZHX3_ENST00000560361.1_Frame_Shift_Ins_p.G889fs|ZHX3_ENST00000559234.1_Frame_Shift_Ins_p.G889fs|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	889					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TCTGGTCTCCTCCCCCATTTTC	0.554													10	1546	---	---	---	---					
LPIN3	64900	broad.mit.edu	37	20	39977798	39977799	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													15	369	---	---	---	---					
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													29	339	---	---	---	---					
PIGT	51604	broad.mit.edu	37	20	44050025	44050026	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:44050025_44050026insC	ENST00000279036.6	+	9	1116_1117	c.1036_1037insC	c.(1036-1038)cccfs	p.P346fs	PIGT_ENST00000372689.5_Intron|PIGT_ENST00000543458.2_Frame_Shift_Ins_p.P290fs|PIGT_ENST00000341555.5_Frame_Shift_Ins_p.P152fs|PIGT_ENST00000545755.1_Frame_Shift_Ins_p.P84fs|PIGT_ENST00000535404.1_Frame_Shift_Ins_p.P191fs|PIGT_ENST00000279035.9_Frame_Shift_Ins_p.P244fs	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	346					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TTACACAGAGGCCCCCCCAGTG	0.574													10	212	---	---	---	---					
WFDC3	140686	broad.mit.edu	37	20	44404105	44404106	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:44404105_44404106insG	ENST00000243938.4	-	6	712_713	c.629_630insC	c.(628-630)caafs	p.Q210fs	WFDC3_ENST00000372632.2_Frame_Shift_Ins_p.Q116fs|WFDC3_ENST00000372630.2_Frame_Shift_Ins_p.Q73fs|WFDC3_ENST00000481847.1_5'UTR	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	210						extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				TGGTCAGTTTTGGGGGCAGGAC	0.480													10	1288	---	---	---	---					
SLC12A5	57468	broad.mit.edu	37	20	44680421	44680422	+	Frame_Shift_Ins	INS	-	-	G	rs138144890		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:44680421_44680422insG	ENST00000454036.1	+	18	2434_2435	c.2358_2359insG	c.(2356-2361)ctggggfs	p.LG786fs	SLC12A5_ENST00000243964.3_Frame_Shift_Ins_p.LG763fs	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	786					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCGGGGGCCTCGGGGGGCTGCA	0.599													7	389	---	---	---	---					
ARFGEF2	10564	broad.mit.edu	37	20	47614920	47614921	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:47614920_47614921insC	ENST00000371917.4	+	25	3310_3311	c.3310_3311insC	c.(3310-3312)cccfs	p.P1104fs	ARFGEF2_ENST00000493140.1_3'UTR	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1104					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGAACTGGCTTCCCCCCACCAT	0.505													7	576	---	---	---	---					
SPATA2	9825	broad.mit.edu	37	20	48522802	48522803	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:48522802_48522803insG	ENST00000422556.1	-	3	1265_1266	c.916_917insC	c.(916-918)cggfs	p.R306fs	SPATA2_ENST00000289431.5_Frame_Shift_Ins_p.R306fs|SPATA2_ENST00000543716.1_Frame_Shift_Ins_p.R169fs	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													7	331	---	---	---	---					
SALL4	57167	broad.mit.edu	37	20	50400982	50400983	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:50400982_50400983insC	ENST00000217086.4	-	4	3094_3095	c.2983_2984insG	c.(2983-2985)tccfs	p.S995fs	SALL4_ENST00000395997.3_Frame_Shift_Ins_p.S558fs|SALL4_ENST00000371539.3_Frame_Shift_Ins_p.S218fs	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													14	201	---	---	---	---					
SALL4	57167	broad.mit.edu	37	20	50408525	50408526	+	Frame_Shift_Ins	INS	-	-	G	rs146411998		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:50408525_50408526insG	ENST00000217086.4	-	2	607_608	c.496_497insC	c.(496-498)ggafs	p.G166fs	SALL4_ENST00000395997.3_Frame_Shift_Ins_p.G166fs|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'UTR	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	166					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						GCTTATGTCCTGGGGGGTGGGT	0.574													13	656	---	---	---	---					
TSHZ2	128553	broad.mit.edu	37	20	51872444	51872445	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:51872444_51872445insC	ENST00000371497.5	+	2	3334_3335	c.2447_2448insC	c.(2446-2448)gccfs	p.A816fs	TSHZ2_ENST00000603338.2_Frame_Shift_Ins_p.A813fs|TSHZ2_ENST00000329613.6_Frame_Shift_Ins_p.A813fs	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	816					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCCTCCAGGGTCCCCCCCATGA	0.550													17	411	---	---	---	---					
RAE1	8480	broad.mit.edu	37	20	55948625	55948626	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:55948625_55948626insC	ENST00000395841.2	+	9	1157_1158	c.737_738insC	c.(736-738)accfs	p.T246fs	RAE1_ENST00000527947.1_Frame_Shift_Ins_p.T246fs|RAE1_ENST00000395840.2_Frame_Shift_Ins_p.T246fs|RAE1_ENST00000371242.2_Frame_Shift_Ins_p.T246fs	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	246					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			CACTATATCAACCCCCCGAACC	0.446													9	425	---	---	---	---					
PHACTR3	116154	broad.mit.edu	37	20	58342388	58342389	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:58342388_58342389insC	ENST00000371015.1	+	5	1156_1157	c.689_690insC	c.(688-690)accfs	p.T230fs	PHACTR3_ENST00000541461.1_Frame_Shift_Ins_p.T189fs|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000395636.2_Frame_Shift_Ins_p.T189fs|PHACTR3_ENST00000355648.4_Frame_Shift_Ins_p.T189fs|PHACTR3_ENST00000359926.3_Frame_Shift_Ins_p.T227fs|PHACTR3_ENST00000361300.4_Intron	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	230	Pro-rich.					nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CAGCTCCCCAGCCCCCCACTGC	0.594													7	390	---	---	---	---					
OSBPL2	9885	broad.mit.edu	37	20	60854257	60854258	+	Frame_Shift_Ins	INS	-	-	C	rs79735057		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:60854257_60854258insC	ENST00000313733.3	+	7	738_739	c.536_537insC	c.(535-537)cccfs	p.P179fs	OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.P87fs|OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.P167fs	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	179					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GTCAGTCACCACCCCCCCATCA	0.465													35	290	---	---	---	---					
OSBPL2	9885	broad.mit.edu	37	20	60861749	60861750	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:60861749_60861750insC	ENST00000313733.3	+	11	1309_1310	c.1107_1108insC	c.(1105-1110)cgccccfs	p.RP369fs	OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.RP277fs|OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.RP357fs	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	369					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			TCAACACCCGGCCCCCCAACTC	0.658													7	226	---	---	---	---					
AP001347.6	0	broad.mit.edu	37	21	15399926	15399927	+	RNA	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr21:15399926_15399927insG	ENST00000428809.1	+	0	177																											ATGGTGAGTGTGGGGGGCAGGG	0.604													8	960	---	---	---	---					
TIAM1	7074	broad.mit.edu	37	21	32499452	32499452	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr21:32499452delA	ENST00000286827.3	-	27	4535	c.4064delT	c.(4063-4065)ggfs	p.V1355fs	TIAM1_ENST00000541036.1_Frame_Shift_Del_p.V1295fs	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1355	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AATTTCACACACGGCATTTGC	0.443													28	598	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41414355	41414356	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr21:41414355_41414356insG	ENST00000400454.1	-	32	6105_6106	c.5628_5629insC	c.(5626-5631)ccaaccfs	p.T1877fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1877					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			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)				TCCTGAGGTTTGGGGGGAGATG	0.569													11	422	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													38	1059	---	---	---	---					
ZBTB21	49854	broad.mit.edu	37	21	43411688	43411691	+	Frame_Shift_Del	DEL	GACG	GACG	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr21:43411688_43411691delGACG	ENST00000310826.5	-	3	2697_2700	c.2514_2517delCGTC	c.(2512-2517)atfs	p.IV838fs	ZBTB21_ENST00000398511.3_Frame_Shift_Del_p.IV838fs|ZBTB21_ENST00000398499.1_Frame_Shift_Del_p.IV838fs|ZBTB21_ENST00000398505.3_Frame_Shift_Del_p.IV637fs|ZBTB21_ENST00000465968.1_5'UTR	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		CTTTTGTGGTGACGATGTGGTTTA	0.471													30	850	---	---	---	---					
PDE9A	5152	broad.mit.edu	37	21	44171249	44171250	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr21:44171249_44171250insT	ENST00000291539.6	+	9	737_738	c.677_678insT	c.(676-678)attfs	p.I226fs	PDE9A_ENST00000398234.3_Frame_Shift_Ins_p.I125fs|PDE9A_ENST00000335440.6_Frame_Shift_Ins_p.I124fs|PDE9A_ENST00000328862.6_Frame_Shift_Ins_p.I200fs|PDE9A_ENST00000398227.3_Frame_Shift_Ins_p.I66fs|PDE9A_ENST00000398224.3_Frame_Shift_Ins_p.I99fs|PDE9A_ENST00000349112.3_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000335512.4_Frame_Shift_Ins_p.I166fs|PDE9A_ENST00000398236.3_Frame_Shift_Ins_p.I140fs|PDE9A_ENST00000380328.2_Frame_Shift_Ins_p.I173fs|PDE9A_ENST00000398225.3_Frame_Shift_Ins_p.I185fs|PDE9A_ENST00000398229.3_Frame_Shift_Ins_p.I92fs|PDE9A_ENST00000398232.3_Frame_Shift_Ins_p.I159fs|PDE9A_ENST00000539837.1_Frame_Shift_Ins_p.I98fs	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													12	1273	---	---	---	---					
MCM3AP	8888	broad.mit.edu	37	21	47685950	47685951	+	Frame_Shift_Ins	INS	-	-	G	rs139382919		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr21:47685950_47685951insG	ENST00000397708.1	-	12	3173_3174	c.2919_2920insC	c.(2917-2922)cctcccfs	p.P974fs	MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.P974fs			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	974					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)					TGACGAGGGACGGGGGGCAATG	0.589													15	1009	---	---	---	---					
TUBA8	51807	broad.mit.edu	37	22	18609265	18609266	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:18609265_18609266insC	ENST00000330423.3	+	4	593_594	c.520_521insC	c.(520-522)cccfs	p.P174fs	TUBA8_ENST00000316027.6_Frame_Shift_Ins_p.P108fs	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	174					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CATCTACCCAGCCCCCCAGGTC	0.545													12	929	---	---	---	---					
KLHL22	84861	broad.mit.edu	37	22	20819244	20819245	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:20819244_20819245insG	ENST00000328879.4	-	4	1168_1169	c.1012_1013insC	c.(1012-1014)catfs	p.H338fs	KLHL22_ENST00000440659.2_Frame_Shift_Ins_p.H195fs	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	338					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GTTGGACATGCGGGGGGCCAGG	0.574													10	308	---	---	---	---					
SERPIND1	3053	broad.mit.edu	37	22	21138419	21138420	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:21138419_21138420insG	ENST00000215727.5	+	3	1332_1333	c.1049_1050insG	c.(1048-1050)gggfs	p.G350fs	PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.G350fs|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	350					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)	CTGGAATACGTGGGGGGCATCA	0.540											OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	427	---	---	---	---					
SNAP29	9342	broad.mit.edu	37	22	21224735	21224736	+	Frame_Shift_Ins	INS	-	-	G	rs113637255		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:21224735_21224736insG	ENST00000215730.6	+	2	476_477	c.348_349insG	c.(346-351)ttggggfs	p.LG116fs		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	116					cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity	p.L119fs*15(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			AGAGCGTGTTTGGGGGGCTGGT	0.505													10	503	---	---	---	---					
ZNF280A	129025	broad.mit.edu	37	22	22869526	22869527	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:22869526_22869527insG	ENST00000302097.3	-	2	680_681	c.428_429insC	c.(427-429)cggfs	p.R143fs		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	143					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)		ACTGAGTCCCTGGGGGGAGCGA	0.455													11	376	---	---	---	---					
SMARCB1	6598	broad.mit.edu	37	22	24135858	24135859	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:24135858_24135859insC	ENST00000344921.6	+	3	525_526	c.318_319insC	c.(316-321)gaccccfs	p.DP106fs	SMARCB1_ENST00000407082.3_Frame_Shift_Ins_p.DP115fs|SMARCB1_ENST00000263121.7_Frame_Shift_Ins_p.DP115fs|SMARCB1_ENST00000407422.3_Frame_Shift_Ins_p.DP106fs			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	115	DNA-binding (Potential).				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)|p.T118fs*25(1)|p.P116T(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				TCAGCACAGAGCCCCCCACCTA	0.530			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							9	349	---	---	---	---					
ASPHD2	57168	broad.mit.edu	37	22	26838458	26838459	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:26838458_26838459insG	ENST00000215906.5	+	3	1358_1359	c.920_921insG	c.(919-921)gggfs	p.G307fs		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	307					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GAGCTGGTGGTGGGGGGAGAGC	0.559													10	829	---	---	---	---					
TFIP11	24144	broad.mit.edu	37	22	26895459	26895460	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:26895459_26895460insG	ENST00000407690.1	-	9	1222_1223	c.939_940insC	c.(937-942)ccgcttfs	p.L314fs	TFIP11_ENST00000407148.1_Frame_Shift_Ins_p.L314fs|TFIP11_ENST00000405938.1_Frame_Shift_Ins_p.L314fs|TFIP11_ENST00000407431.1_Frame_Shift_Ins_p.L314fs	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	314					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						AGCGCGAAGCCGGGGGCCTTGG	0.604													7	377	---	---	---	---					
CRYBB1	1414	broad.mit.edu	37	22	26995459	26995460	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:26995459_26995460insG	ENST00000215939.2	-	6	883_884	c.753_754insC	c.(751-756)ccagtgfs	p.V252fs		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	252	C-terminal arm.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						TGGACTCACTTGGGGGGCTCTG	0.554													14	299	---	---	---	---					
HSCB	150274	broad.mit.edu	37	22	29140666	29140667	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:29140666_29140667insC	ENST00000216027.3	+	3	462_463	c.397_398insC	c.(397-399)cccfs	p.P133fs	HSCB_ENST00000398941.2_Frame_Shift_Ins_p.P133fs|HSCB_ENST00000495977.1_3'UTR	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	133	J.				iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)|lung(2)|skin(1)	4						GACCCTCCTGGCCCCCCTGAGC	0.490													11	1466	---	---	---	---					
THOC5	8563	broad.mit.edu	37	22	29925230	29925231	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:29925230_29925231insG	ENST00000490103.1	-	9	970		c.e9-2		THOC5_ENST00000397872.1_Splice_Site|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397873.2_Splice_Site|THOC5_ENST00000397871.1_Splice_Site	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5						intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACGTCTTATCTGGGGGGCAAGA	0.535													10	360	---	---	---	---					
ASCC2	84164	broad.mit.edu	37	22	30221170	30221171	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:30221170_30221171insC	ENST00000397771.2	-	5	493_494	c.316_317insG	c.(316-318)ggcfs	p.G106fs	ASCC2_ENST00000542393.1_Frame_Shift_Ins_p.G53fs|ASCC2_ENST00000307790.3_Frame_Shift_Ins_p.G106fs			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GGCTGAGGCCACCCCCTCGTCG	0.545													7	844	---	---	---	---					
SLC35E4	339665	broad.mit.edu	37	22	31032723	31032724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:31032723_31032724insG	ENST00000343605.4	+	1	1085_1086	c.286_287insG	c.(286-288)gggfs	p.G96fs	SLC35E4_ENST00000406566.1_Frame_Shift_Ins_p.G96fs|SLC35E4_ENST00000300385.8_Frame_Shift_Ins_p.G96fs	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	96						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GGCATGCCACCGGGGGGCACGG	0.663													9	596	---	---	---	---					
MORC2	22880	broad.mit.edu	37	22	31322794	31322795	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:31322794_31322795insC	ENST00000215862.4	-	27	4271_4272	c.2908_2909insG	c.(2908-2910)ctgfs	p.L970fs	MORC2_ENST00000397641.2_Frame_Shift_Ins_p.L1032fs|MORC2-AS1_ENST00000441558.1_RNA	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	1032							ATP binding|zinc ion binding	p.D970Y(1)		breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CTGCCTTCAGTCCCCCTTGGTG	0.584													7	698	---	---	---	---					
TIMP3	7078	broad.mit.edu	37	22	33255323	33255324	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:33255323_33255324insC	ENST00000266085.6	+	5	896_897	c.595_596insC	c.(595-597)cccfs	p.P199fs	SYN3_ENST00000332840.5_Intron|SYN3_ENST00000358763.2_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													10	196	---	---	---	---					
EIF3L	51386	broad.mit.edu	37	22	38258974	38258975	+	Splice_Site	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:38258974_38258975insG	ENST00000412331.2	+	6	1017		c.e6-1		EIF3L_ENST00000406934.1_Splice_Site|EIF3L_ENST00000381683.6_Intron|EIF3L_ENST00000476955.1_Intron	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L							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						TTTTCTTTACAGGGGGGACCTT	0.381													7	141	---	---	---	---					
ATF4	468	broad.mit.edu	37	22	39917921	39917922	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:39917921_39917922insC	ENST00000337304.2	+	2	1252_1253	c.370_371insC	c.(370-372)cccfs	p.P124fs	ATF4_ENST00000404241.2_Frame_Shift_Ins_p.P124fs|ATF4_ENST00000396680.1_Frame_Shift_Ins_p.P124fs	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	124					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)					TGATCTCTTTGCCCCCCTAGTC	0.520													13	967	---	---	---	---					
TNRC6B	23112	broad.mit.edu	37	22	40681766	40681767	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:40681766_40681767insC	ENST00000454349.2	+	12	3911_3912	c.3700_3701insC	c.(3700-3702)cccfs	p.P1234fs	TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.P1124fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1234					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CCAGTTTATTTCCCCCCAGGTA	0.450													15	846	---	---	---	---					
EP300	2033	broad.mit.edu	37	22	41574678	41574679	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:41574678_41574679insC	ENST00000263253.7	+	31	8182_8183	c.6963_6964insC	c.(6961-6966)caccccfs	p.HP2321fs	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_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				18	270	---	---	---	---					
L3MBTL2	83746	broad.mit.edu	37	22	41621833	41621834	+	Frame_Shift_Ins	INS	-	-	G	rs138256505	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:41621833_41621834insG	ENST00000216237.5	+	12	1550_1551	c.1392_1393insG	c.(1390-1395)gaggggfs	p.EG464fs		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	464					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCTGTGTGGACGGGGGGCCCTC	0.574													12	528	---	---	---	---					
RANGAP1	5905	broad.mit.edu	37	22	41650366	41650366	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:41650366delC	ENST00000455915.2	-	10	2675	c.1206delG	c.(1204-1206)ggfs	p.G402fs	RANGAP1_ENST00000407260.4_Frame_Shift_Del_p.G347fs|RANGAP1_ENST00000356244.3_Frame_Shift_Del_p.G402fs|RANGAP1_ENST00000405486.1_Frame_Shift_Del_p.G402fs			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	402					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						TCTCTCCCTGCCCTCGCTGCT	0.547													278	315	---	---	---	---					
MEI1	150365	broad.mit.edu	37	22	42159249	42159250	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:42159249_42159250insC	ENST00000401548.3	+	19	2232_2233	c.2192_2193insC	c.(2191-2193)cccfs	p.P731fs	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540880.1_Frame_Shift_Ins_p.P49fs|MEI1_ENST00000540833.1_Frame_Shift_Ins_p.P471fs|MEI1_ENST00000400107.1_Frame_Shift_Ins_p.P99fs	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	731							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGGGCGAGCGCCCCCCACTGG	0.535											OREG0026596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	553	---	---	---	---					
SREBF2	6721	broad.mit.edu	37	22	42266911	42266914	+	Frame_Shift_Del	DEL	ATCA	ATCA	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:42266911_42266914delATCA	ENST00000361204.4	+	4	905_908	c.739_742delATCA	c.(739-744)tcfs	p.II247fs		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	247	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						CCAGCCTCAGATCATCAAGACAGA	0.495													19	1058	---	---	---	---					
SREBF2	6721	broad.mit.edu	37	22	42271636	42271637	+	Frame_Shift_Ins	INS	-	-	C	rs79727196		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													9	430	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42564715	42564716	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:42564715_42564716insG	ENST00000359486.3	-	4	5962_5963	c.5826_5827insC	c.(5824-5829)cctgcafs	p.A1943fs	TCF20_ENST00000335626.4_Intron|TCF20_ENST00000404876.1_Intron	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1943					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						TTGTTCTGCAAGGGGGGGAGAG	0.619											OREG0026603	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	232	---	---	---	---					
PNPLA5	150379	broad.mit.edu	37	22	44285693	44285694	+	Frame_Shift_Ins	INS	-	-	G	rs140099101	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:44285693_44285694insG	ENST00000216177.4	-	3	609_610	c.477_478insC	c.(475-480)ccagttfs	p.V160fs	PNPLA5_ENST00000593866.1_Intron|PNPLA5_ENST00000597664.1_Frame_Shift_Ins_p.V160fs|PNPLA5_ENST00000381198.2_Intron	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	160	Patatin.				lipid catabolic process		hydrolase activity	p.E160fs*47(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CCTCTGAACTCGGGGGGGATCA	0.574													9	72	---	---	---	---					
ALG12	79087	broad.mit.edu	37	22	50297545	50297546	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:50297545_50297546insG	ENST00000330817.5	-	10	1680_1681	c.1407_1408insC	c.(1405-1410)cctcaafs	p.Q470fs		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	470					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		p.F470fs*>20(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TGGACGTTGAAGGGGGGCAGTT	0.673													9	763	---	---	---	---					
MOV10L1	54456	broad.mit.edu	37	22	50553619	50553620	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:50553619_50553620insG	ENST00000262794.5	+	8	1286_1287	c.1203_1204insG	c.(1201-1206)ccggggfs	p.PG401fs	MOV10L1_ENST00000545383.1_Frame_Shift_Ins_p.PG401fs|MOV10L1_ENST00000395858.3_Frame_Shift_Ins_p.PG401fs|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000540615.1_Frame_Shift_Ins_p.PG381fs	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	401					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGCCTGAGCCTGGGGGGCTTGT	0.460													8	370	---	---	---	---					
PPP6R2	9701	broad.mit.edu	37	22	50845255	50845256	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr22:50845255_50845256insT	ENST00000359139.3	+	4	759_760	c.365_366insT	c.(364-366)attfs	p.I122fs	PPP6R2_ENST00000216061.5_Frame_Shift_Ins_p.I122fs|PPP6R2_ENST00000395741.3_Frame_Shift_Ins_p.I122fs|PPP6R2_ENST00000395744.3_Frame_Shift_Ins_p.I122fs	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	122						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CTGCTCGCCAGTTTTTTCAGCA	0.559													9	2240	---	---	---	---					
CLCN4	1183	broad.mit.edu	37	X	10188762	10188763	+	Frame_Shift_Ins	INS	-	-	C	rs142375213		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:10188762_10188763insC	ENST00000380833.4	+	12	2428_2429	c.2037_2038insC	c.(2035-2040)gaccccfs	p.DP679fs	CLCN4_ENST00000380829.1_Frame_Shift_Ins_p.DP648fs|CLCN4_ENST00000421085.2_Frame_Shift_Ins_p.DP585fs	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	679						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCACGGAGGAACCCCCCGAGCT	0.564													7	302	---	---	---	---					
MID1	4281	broad.mit.edu	37	X	10417613	10417614	+	Frame_Shift_Ins	INS	-	-	G	rs1802191		TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:10417613_10417614insG	ENST00000317552.4	-	10	2198_2199	c.1798_1799insC	c.(1798-1800)cctfs	p.P600fs	MID1_ENST00000380779.1_Frame_Shift_Ins_p.P600fs|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000453318.2_Frame_Shift_Ins_p.P600fs|MID1_ENST00000380787.1_Frame_Shift_Ins_p.P600fs|MID1_ENST00000380780.1_Frame_Shift_Ins_p.P600fs|MID1_ENST00000380785.1_Frame_Shift_Ins_p.P600fs|MID1_ENST00000479925.1_5'UTR	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	600	B30.2/SPRY.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCGCCGGAGGTGGGGGGCAGGC	0.540													8	421	---	---	---	---					
AMELX	265	broad.mit.edu	37	X	11316741	11316742	+	Frame_Shift_Ins	INS	-	-	C	rs2106416	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:11316741_11316742insC	ENST00000380712.3	+	6	328_329	c.260_261insC	c.(259-261)cccfs	p.P87fs	ARHGAP6_ENST00000380718.1_Intron|AMELX_ENST00000380714.3_Frame_Shift_Ins_p.P73fs|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000348912.4_Frame_Shift_Ins_p.P57fs|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	204	---	---	---	---					
CA5B	11238	broad.mit.edu	37	X	15790675	15790676	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													8	388	---	---	---	---					
MAP7D2	256714	broad.mit.edu	37	X	20062545	20062545	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:20062545delA	ENST00000379651.3	-	6	711	c.693delT	c.(691-693)tcfs	p.S231fs	MAP7D2_ENST00000543767.1_Frame_Shift_Del_p.S116fs|MAP7D2_ENST00000379643.5_Frame_Shift_Del_p.S272fs|MAP7D2_ENST00000452324.3_Frame_Shift_Del_p.S179fs|MAP7D2_ENST00000443379.3_Frame_Shift_Del_p.S186fs	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	231										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						ATGTAGACGTAGATGTAGCTT	0.478													33	677	---	---	---	---					
PRRG1	5638	broad.mit.edu	37	X	37312610	37312611	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:37312610_37312611insC	ENST00000542554.1	+	5	665_666	c.393_394insC	c.(391-396)ccccccfs	p.PP131fs	PRRG1_ENST00000449135.2_Frame_Shift_Ins_p.PP131fs|PRRG1_ENST00000491253.1_3'UTR|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000543642.1_Frame_Shift_Ins_p.PP131fs|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													36	209	---	---	---	---					
USP9X	8239	broad.mit.edu	37	X	40982956	40982957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													10	215	---	---	---	---					
RGN	9104	broad.mit.edu	37	X	46940650	46940651	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:46940650_46940651insA	ENST00000397180.1	+	3	1076_1077	c.107_108insA	c.(106-108)gaafs	p.E36fs	RGN_ENST00000352078.4_Frame_Shift_Ins_p.E36fs|RGN_ENST00000469346.1_3'UTR|RGN_ENST00000457380.1_Frame_Shift_Ins_p.E36fs|RGN_ENST00000336169.3_Frame_Shift_Ins_p.E36fs	NM_152869.2	NP_690608.1	Q15493	RGN_HUMAN	regucalcin	36					cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						GACATTCCTGCAAAAAAGGTTT	0.490													7	708	---	---	---	---					
USP11	8237	broad.mit.edu	37	X	47092337	47092338	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:47092337_47092338insG	ENST00000218348.3	+	1	24_25	c.24_25insG	c.(22-27)ttggggfs	p.LG8fs	USP11_ENST00000377107.2_5'UTR	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	8					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						CGCGACTGTTTGGGGGGCTCTG	0.569													7	147	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													23	2125	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													8	1074	---	---	---	---					
TFE3	7030	broad.mit.edu	37	X	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:48887951_48887952insC	ENST00000315869.7	-	10	1704_1705	c.1445_1446insG	c.(1444-1446)gccfs	p.A482fs	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								45	468	---	---	---	---					
OPHN1	4983	broad.mit.edu	37	X	67273588	67273589	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:67273588_67273589insG	ENST00000355520.5	-	22	2863_2864	c.2222_2223insC	c.(2221-2223)cgtfs	p.R741fs	OPHN1_ENST00000540071.1_Frame_Shift_Ins_p.R633fs	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	741	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GGGGCCTCACTGGGGGGCGGAT	0.550													10	323	---	---	---	---					
OPHN1	4983	broad.mit.edu	37	X	67283963	67283964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:67283963_67283964insG	ENST00000355520.5	-	21	2531_2532	c.1890_1891insC	c.(1888-1893)ccagccfs	p.A631fs	OPHN1_ENST00000540071.1_Intron|OPHN1_ENST00000484842.1_5'UTR	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	631	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TGTGGTGGCTTGGGGGGTTCTA	0.475													22	2207	---	---	---	---					
FOXO4	4303	broad.mit.edu	37	X	70321276	70321277	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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	63	---	---	---	---					
IL2RG	3561	broad.mit.edu	37	X	70327613	70327614	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:70327613_70327614insG	ENST00000374202.2	-	8	1173_1174	c.1082_1083insC	c.(1081-1083)ctgfs	p.L361fs	IL2RG_ENST00000374188.3_Frame_Shift_Ins_p.L90fs|IL2RG_ENST00000456850.2_Frame_Shift_Ins_p.L171fs	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				10	96	---	---	---	---					
PCDH19	57526	broad.mit.edu	37	X	99551516	99551517	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:99551516_99551517insG	ENST00000373034.4	-	6	4880_4881	c.3205_3206insC	c.(3205-3207)ccafs	p.P1069fs	PCDH19_ENST00000420881.2_Frame_Shift_Ins_p.P1021fs|PCDH19_ENST00000255531.7_Frame_Shift_Ins_p.P1022fs	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1069					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CTTGAGGTGGAGGGGGGAGGTG	0.584													7	163	---	---	---	---					
NOX1	27035	broad.mit.edu	37	X	100117691	100117692	+	Frame_Shift_Ins	INS	-	-	C	rs145552525	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:100117691_100117692insC	ENST00000372966.3	-	5	660_661	c.455_456insG	c.(454-456)gtcfs	p.V152fs	NOX1_ENST00000372964.1_Frame_Shift_Ins_p.V152fs|NOX1_ENST00000372960.4_Frame_Shift_Ins_p.V115fs|NOX1_ENST00000217885.5_Frame_Shift_Ins_p.V152fs	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	152	Ferric oxidoreductase.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TTAGCCAAGAACCCCCCTTTTT	0.500													11	1164	---	---	---	---					
GUCY2F	2986	broad.mit.edu	37	X	108619325	108619326	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:108619325_108619326insG	ENST00000218006.2	-	18	3512_3513	c.3221_3222insC	c.(3220-3222)cccfs	p.P1074fs		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1074					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.P1074Q(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TGTCCACTGGTGGGGGCACAGG	0.436													8	830	---	---	---	---					
ZCCHC12	170261	broad.mit.edu	37	X	117960135	117960136	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	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													11	1238	---	---	---	---					
XPNPEP2	7512	broad.mit.edu	37	X	128890517	128890518	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:128890517_128890518insG	ENST00000371106.3	+	14	1545_1546	c.1353_1354insG	c.(1351-1356)tcggggfs	p.SG451fs		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	451					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TGCTGGACTCTGGGGGGCAGTA	0.579													12	293	---	---	---	---					
BCORL1	63035	broad.mit.edu	37	X	129146962	129146963	+	Frame_Shift_Ins	INS	-	-	G	rs141901231	byFrequency	TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:129146962_129146963insG	ENST00000540052.1	+	3	258_259	c.214_215insG	c.(214-216)gggfs	p.G72fs	BCORL1_ENST00000303743.5_Frame_Shift_Ins_p.G72fs|BCORL1_ENST00000488135.1_3'UTR|BCORL1_ENST00000359304.2_Frame_Shift_Ins_p.G72fs|BCORL1_ENST00000218147.7_Frame_Shift_Ins_p.G72fs	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	72					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAGCAATGCCCGGGGGGCAGAC	0.569													10	436	---	---	---	---					
IGSF1	3547	broad.mit.edu	37	X	130409137	130409138	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:130409137_130409138insC	ENST00000370904.1	-	23	4190_4191	c.3280_3281insG	c.(3280-3282)tcafs	p.S1094fs	IGSF1_ENST00000370903.3_Frame_Shift_Ins_p.S1108fs|IGSF1_ENST00000370910.1_Frame_Shift_Ins_p.S1094fs|IGSF1_ENST00000361420.3_Frame_Shift_Ins_p.S1103fs			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1103	Ig-like C2-type 11.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGGCTCCTGAGCCCCCTCCTTC	0.530													7	948	---	---	---	---					
IGSF1	3547	broad.mit.edu	37	X	130411113	130411114	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:130411113_130411114insG	ENST00000370904.1	-	20	3290_3291	c.2380_2381insC	c.(2380-2382)ccafs	p.P794fs	IGSF1_ENST00000370903.3_Frame_Shift_Ins_p.P808fs|IGSF1_ENST00000370910.1_Frame_Shift_Ins_p.P794fs|IGSF1_ENST00000361420.3_Frame_Shift_Ins_p.P803fs|IGSF1_ENST00000467244.1_5'UTR			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	803	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CATATGCTGGTGGGGGGTGGAG	0.510													11	348	---	---	---	---					
PLAC1	10761	broad.mit.edu	37	X	133700357	133700358	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:133700357_133700358insG	ENST00000359237.4	-	3	640_641	c.355_356insC	c.(355-357)aaafs	p.K119fs	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN	placenta-specific 1	119					placenta development	extracellular region				large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TGGGGACTTTTGGGGGGCAGCA	0.530													16	278	---	---	---	---					
PLAC1	10761	broad.mit.edu	37	X	133700524	133700525	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:133700524_133700525insG	ENST00000359237.4	-	3	473_474	c.188_189insC	c.(187-189)caafs	p.Q63fs	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN	placenta-specific 1	63					placenta development	extracellular region				large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					GAACATGGTTTGGGGGGCAACC	0.510													15	432	---	---	---	---					
SLITRK2	84631	broad.mit.edu	37	X	144904117	144904118	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:144904117_144904118insC	ENST00000370490.1	+	1	4429_4430	c.174_175insC	c.(172-177)caccccfs	p.HP58fs	SLITRK2_ENST00000413937.2_Frame_Shift_Ins_p.HP58fs|SLITRK2_ENST00000428560.2_Frame_Shift_Ins_p.HP58fs|SLITRK2_ENST00000434188.2_Frame_Shift_Ins_p.HP58fs|SLITRK2_ENST00000447897.2_Frame_Shift_Ins_p.HP58fs			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	58						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTGCTCCAGCCCCCCCAGTA	0.431													7	89	---	---	---	---					
FMR1	2332	broad.mit.edu	37	X	147024810	147024811	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:147024810_147024811insG	ENST00000218200.8	+	13	1601_1602	c.1372_1373insG	c.(1372-1374)gggfs	p.G458fs	FMR1_ENST00000439526.2_Frame_Shift_Ins_p.G456fs|FMR1_ENST00000492846.1_3'UTR|FMR1_ENST00000440235.2_Frame_Shift_Ins_p.G126fs|FMR1_ENST00000370475.4_Frame_Shift_Ins_p.G479fs|FMR1_ENST00000370470.1_Frame_Shift_Ins_p.G479fs|FMR1_ENST00000370471.3_Intron|FMR1_ENST00000370477.1_Frame_Shift_Ins_p.G458fs	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	479	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					TTACAGAAATAGGGGGCACGGC	0.426									Fragile X syndrome				7	528	---	---	---	---					
PNCK	139728	broad.mit.edu	37	X	152936626	152936627	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:152936626_152936627insG	ENST00000393831.2	-	8	1136_1137	c.702_703insC	c.(700-705)cctctafs	p.L235fs	PNCK_ENST00000447676.2_Frame_Shift_Ins_p.L295fs|PNCK_ENST00000340888.3_Frame_Shift_Ins_p.L212fs|PNCK_ENST00000370142.1_Frame_Shift_Ins_p.L235fs|PNCK_ENST00000370145.4_Frame_Shift_Ins_p.L229fs|PNCK_ENST00000370150.1_Frame_Shift_Ins_p.L212fs	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	212	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCGTCGTAGAAGGGGGGGTACC	0.589													10	130	---	---	---	---					
ATP6AP1	537	broad.mit.edu	37	X	153662714	153662720	+	Frame_Shift_Del	DEL	GGGAGGA	GGGAGGA	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:153662714_153662720delGGGAGGA	ENST00000369762.2	+	7	906_912	c.845_851delGGGAGGA	c.(844-852)tcfs	p.WED282fs		NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	282					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGGACCAGTGGGAGGACCTGACTCCC	0.570													11	175	---	---	---	---					
SLC10A3	8273	broad.mit.edu	37	X	153716952	153716952	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3363-01A-01W-0886-08	TCGA-A3-3363-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7ed4c79-4883-4a1c-947f-5f8ef1b1da1e	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chrX:153716952delG	ENST00000263512.4	-	2	826	c.328delC	c.(328-330)tgfs	p.L110fs	SLC10A3_ENST00000393586.1_Frame_Shift_Del_p.L165fs|SLC10A3_ENST00000393587.4_Frame_Shift_Del_p.L110fs|SLC10A3_ENST00000369649.4_Frame_Shift_Del_p.L110fs	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	110					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCTGTGTCCAGGGAGGTGACC	0.622													14	278	---	---	---	---