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
CASP1	834	broad.mit.edu	37	11	104904955	104904955	+	Missense_Mutation	SNP	C	C	T	rs2509649		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:104904955C>T	ENST00000533400.1	-	2	289	c.254G>A	c.(253-255)gGg>gAg	p.G85E	CASP1_ENST00000526568.1_Intron|CASP1_ENST00000525825.1_Missense_Mutation_p.G85E|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.G85E|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.G85E|CASP1_ENST00000593315.1_Missense_Mutation_p.G85E|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000598974.1_Missense_Mutation_p.G85E|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000527979.1_Missense_Mutation_p.G69E|CASP1_ENST00000528974.1_Missense_Mutation_p.G46E|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000531166.1_Intron	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	85	CARD.				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	p.G85E(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TCCCAGCGTCCCTGCCAGGTA	0.468000													6	407					0	0	1	0	0
TOB2	10766	broad.mit.edu	37	22	41832382	41832382	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr22:41832382A>G	ENST00000327492.3	-	2	1674	c.968T>C	c.(967-969)cTc>cCc	p.L323P		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	323					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus		p.L323P(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GTTGTAGCTGAGGCCTTCCAC	0.602000													58	236					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48942661	48942661	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr13:48942661A>T	ENST00000267163.4	+	11	1187		c.e11-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATTGTTATTTAGTTTTGAAAC	0.318000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			4	104					0	0	1	0	0
RRAS2	22800	broad.mit.edu	37	11	14316410	14316410	+	Splice_Site	SNP	T	T	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:14316410T>A	ENST00000545643.1	-	3	528		c.e3-2		RRAS2_ENST00000534746.1_Splice_Site|RRAS2_ENST00000529237.1_Splice_Site|RRAS2_ENST00000532814.1_Splice_Site|RRAS2_ENST00000537760.1_Splice_Site|RRAS2_ENST00000414023.2_Splice_Site|RRAS2_ENST00000256196.4_Splice_Site|RRAS2_ENST00000526063.1_Splice_Site	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2							endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		TATCCAAAACTAAAGAAAAAA	0.398000													9	180					0	0	1	0	0
ZBTB49	166793	broad.mit.edu	37	4	4304683	4304683	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr4:4304683G>T	ENST00000337872.4	+	3	1241	c.1120G>T	c.(1120-1122)Gag>Tag	p.E374*	ZBTB49_ENST00000355834.3_Nonsense_Mutation_p.E374*|ZBTB49_ENST00000538529.1_5'UTR	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						TAGTGAGACGGAGAGGCCTGA	0.458000													6	103					0.00198382	0.00209348	1	1	0
ST18	9705	broad.mit.edu	37	8	53084356	53084356	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr8:53084356A>T	ENST00000276480.7	-	10	1748	c.1065T>A	c.(1063-1065)aaT>aaA	p.N355K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	355						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCTTACGTTTATTGTTAAAGA	0.363000													5	236					0	0	1	0	0
PRDM4	11108	broad.mit.edu	37	12	108127989	108127989	+	Nonstop_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:108127989A>T	ENST00000228437.5	-	12	2863	c.2404T>A	c.(2404-2406)Taa>Aaa	p.*802K		NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	0					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TTTTCCTTTTATTTATGTGCA	0.358000													8	159					0	0	1	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98678671	98678671	+	Silent	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr9:98678671C>A	ENST00000288985.7	+	6	1451	c.1146C>A	c.(1144-1146)cgC>cgA	p.R382R	ERCC6L2_ENST00000437817.1_Silent_p.R193R|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	382					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										TTCTCAGGCGCACCAAGACTC	0.428000													17	194					8.00594e-06	8.84867e-06	1	1	0
ZNF564	163050	broad.mit.edu	37	19	12637723	12637723	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:12637723C>T	ENST00000339282.7	-	4	1395	c.1199G>A	c.(1198-1200)aGa>aAa	p.R400K	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GTCAAAGGCTCTACCACATAC	0.433000													4	211					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70626490	70626490	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chrX:70626490C>T	ENST00000449580.1	+	26	4049	c.3998C>T	c.(3997-3999)gCg>gTg	p.A1333V	TAF1_ENST00000373790.4_Missense_Mutation_p.A1333V|TAF1_ENST00000276072.3_Missense_Mutation_p.A1354V|TAF1_ENST00000423759.1_Missense_Mutation_p.A1354V			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1333					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GATTTTAGTGCGGATGAGGTT	0.408000													3	63					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71380143	71380143	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:71380143G>T	ENST00000392650.3	-	33	4577	c.4577C>A	c.(4576-4578)gCa>gAa	p.A1526E	SDK2_ENST00000388726.3_Missense_Mutation_p.A1526E	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1526	Fibronectin type-III 10.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTTGTCCTCTGCTGGCGGCTG	0.617000													4	35					0.000602214	0.000638712	1	1	0
TRIM38	10475	broad.mit.edu	37	6	25983850	25983850	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:25983850A>G	ENST00000357085.3	+	8	1809	c.1333A>G	c.(1333-1335)Act>Gct	p.T445A	TRIM38_ENST00000349458.3_Missense_Mutation_p.T445A	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	445	B30.2/SPRY.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CTTCTCTGATACTCTCCGGCC	0.463000													6	138					0	0	1	0	0
SMU1	55234	broad.mit.edu	37	9	33057663	33057663	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr9:33057663A>G	ENST00000397149.3	-	7	850	c.800T>C	c.(799-801)gTc>gCc	p.V267A	SMU1_ENST00000536631.1_Missense_Mutation_p.V106A	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	267						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CATGCAGAGGACAGCATCATC	0.418000													3	139					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82583288	82583288	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:82583288C>A	ENST00000423517.2	-	5	7318	c.6981G>T	c.(6979-6981)gaG>gaT	p.E2327D	PCLO_ENST00000333891.8_Missense_Mutation_p.E2327D	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2258	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.E2327D(2)|p.E2258D(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCGTTCGGCCTCCAACTCCT	0.413000													64	147					1.42676e-28	1.70239e-28	1	1	0
CYP46A1	10858	broad.mit.edu	37	14	100166435	100166435	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr14:100166435G>A	ENST00000261835.3	+	5	544	c.440G>A	c.(439-441)cGg>cAg	p.R147Q	CYP46A1_ENST00000423126.2_Missense_Mutation_p.R50Q	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	147					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GCCTTCAGCCGGAGGTGAGTG	0.622000													3	84					0	0	1	0	0
ARPC2	10109	broad.mit.edu	37	2	219099073	219099073	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													7	241					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974717	49974717	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:49974717C>T	ENST00000555099.1	+	1	775	c.743C>T	c.(742-744)tCc>tTc	p.S248F		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S248F(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GTCATCTTATCCTTTATACCC	0.433000													44	318					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179615716	179615716	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:179615716G>A	ENST00000360870.5	-	46	11633	c.11411C>T	c.(11410-11412)aCt>aTt	p.T3804I	TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9641							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)			TCTTATTTCAGTCTGGAAAAT	0.348000													7	153					0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173525588	173525588	+	Silent	SNP	C	C	T	rs148161018		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr3:173525588C>T	ENST00000457714.1	+	4	1041	c.612C>T	c.(610-612)atC>atT	p.I204I	NLGN1_ENST00000401917.3_Silent_p.I244I|NLGN1_ENST00000361589.4_Silent_p.I204I|NLGN1_ENST00000545397.1_Silent_p.I204I	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	221					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.I204I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GCAATGTGATCGTCATCACAG	0.403000													18	60					0	0	1	0	0
MCM8	84515	broad.mit.edu	37	20	5958578	5958578	+	Silent	SNP	C	C	T	rs113442872	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr20:5958578C>T	ENST00000378896.3	+	13	1829	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	MCM8_ENST00000265187.4_Silent_p.T468T|MCM8_ENST00000378886.2_Silent_p.T524T|MCM8_ENST00000378883.1_Silent_p.T437T	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	484	MCM.|Thr-rich.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	p.T484T(1)|p.T468T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						CCACGACCACCTCTGGTCTGA	0.473000													5	182					0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95158101	95158101	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr4:95158101A>T	ENST00000354268.4	+	5	610		c.e5-1		SMARCAD1_ENST00000457823.2_Splice_Site			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1						chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TCGTTCTGTTAGTTGATTGAA	0.323000													4	105					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116380002	116380002	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:116380002A>T	ENST00000397752.3	+	4	1592		c.e4-1		MET_ENST00000318493.6_Splice_Site|MET_ENST00000495962.1_Splice_Site|MET_ENST00000436117.2_Splice_Site	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene						axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTTGCTGTTTAGGTTGTGGTT	0.388000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				6	282					0	0	1	0	0
ZBTB49	166793	broad.mit.edu	37	4	4322531	4322531	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr4:4322531C>A	ENST00000337872.4	+	8	1907	c.1786C>A	c.(1786-1788)Ctg>Atg	p.L596M	ZBTB49_ENST00000355834.3_Missense_Mutation_p.L474M|ZBTB49_ENST00000538529.1_Missense_Mutation_p.L79M	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L596M(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						CCCAGATGTGCTGGAGGAGCT	0.557000													14	50					7.07596e-05	7.65954e-05	1	1	0
CADM1	23705	broad.mit.edu	37	11	115085414	115085414	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:115085414A>T	ENST00000542447.2	-	7	1036	c.908T>A	c.(907-909)cTa>cAa	p.L303Q	CADM1_ENST00000452722.2_Missense_Mutation_p.L303Q|CADM1_ENST00000536727.1_Missense_Mutation_p.L303Q|CADM1_ENST00000537058.1_Missense_Mutation_p.L303Q|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000331581.6_Missense_Mutation_p.L303Q	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	303	Ig-like C2-type 2.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TGTTTTGTTTAGGTTATTGAT	0.468000													9	323					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48053856	48053856	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr15:48053856A>T	ENST00000316364.5	+	7	886		c.e7-1		SEMA6D_ENST00000358066.4_Splice_Site|SEMA6D_ENST00000558816.1_Splice_Site|SEMA6D_ENST00000536845.2_Splice_Site|SEMA6D_ENST00000389433.2_Splice_Site|SEMA6D_ENST00000537942.1_Splice_Site|SEMA6D_ENST00000389432.2_Splice_Site|SEMA6D_ENST00000354744.4_Splice_Site|SEMA6D_ENST00000389428.3_Splice_Site|SEMA6D_ENST00000355997.3_Splice_Site|SEMA6D_ENST00000558014.1_Splice_Site|SEMA6D_ENST00000389425.3_Splice_Site	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D						axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TTTCTTTTGTAGTTGAGTACC	0.373000													5	151					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5462929	5462929	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:5462929T>G	ENST00000296564.7	+	13	3704	c.3482T>G	c.(3481-3483)aTa>aGa	p.I1161R		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1161								p.I1161R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GATTTTAACATAAGTACTTTT	0.428000													14	28					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123161078	123161078	+	Missense_Mutation	SNP	C	C	T	rs75959726		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr4:123161078C>T	ENST00000264501.4	+	29	4614	c.4241C>T	c.(4240-4242)cCg>cTg	p.P1414L	KIAA1109_ENST00000455637.1_Missense_Mutation_p.P1414L|KIAA1109_ENST00000388738.3_Missense_Mutation_p.P1414L|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	1414					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGAACTTATCCGGGTAGAAAA	0.453000													3	126					0	0	1	0	0
RNF168	165918	broad.mit.edu	37	3	196210676	196210676	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr3:196210676A>T	ENST00000318037.3	-	4	1239	c.645T>A	c.(643-645)agT>agA	p.S215R		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	215					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GTTTGTTCTTACTTTTCTTTT	0.363000													4	126					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42742008	42742008	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr15:42742008A>T	ENST00000263805.4	-	2	2719	c.2393T>A	c.(2392-2394)gTa>gAa	p.V798E	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		TTTCTTGGTTACTTGCTGAAT	0.458000													8	355					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81209300	81209300	+	Silent	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:81209300A>G	ENST00000599697.1	-	15	2492	c.2493T>C	c.(2491-2493)ctT>ctC	p.L831L	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000527937.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	831	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCTCCTCTCCAAGTGGCAGAT	0.552000													4	157					0	0	1	0	0
TMEM74B	55321	broad.mit.edu	37	20	1164439	1164439	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr20:1164439G>C	ENST00000381894.3	-	1	678	c.7C>G	c.(7-9)Cca>Gca	p.P3A	TMEM74B_ENST00000481747.1_Intron	NM_018354.1	NP_060824.1	Q9NUR3	CT046_HUMAN	transmembrane protein 74B	3						integral to membrane	protein binding										CCCTGTGCTGGTGGCATCACT	0.488000													4	211					0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24579183	24579183	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr22:24579183G>A	ENST00000358321.3	+	2	496	c.235G>A	c.(235-237)Gtg>Atg	p.V79M		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	79					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	p.V79L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CAAGGACTTTGTGGTGCGGCA	0.637000													17	26					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32151357	32151357	+	Silent	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:32151357C>T	ENST00000373672.3	-	29	2415	c.1899G>A	c.(1897-1899)gaG>gaA	p.E633E	COL16A1_ENST00000373668.3_Silent_p.E633E|COL16A1_ENST00000271069.6_Silent_p.E632E	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	633	Nonhelical region 7 (NC7).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CTGGGCACGGCTCACAGGGCT	0.627000													3	98					0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4388732	4388732	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:4388732C>T	ENST00000408920.2	-	1	884	c.794G>A	c.(793-795)aGg>aAg	p.R265K		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCGTCCAAACCTCTGGGTAAG	0.473000													5	231					0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7288076	7288076	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:7288076G>T	ENST00000537408.1	+	3	1111	c.573G>T	c.(571-573)caG>caT	p.Q191H	CLSTN3_ENST00000266546.6_Missense_Mutation_p.Q179H			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	179	Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.Q179>?(1)|p.Q179H(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						AGTACAGCCAGATCTGCTACT	0.582000													207	617					9.45852e-170	1.14155e-169	1	1	0
REM1	28954	broad.mit.edu	37	20	30064381	30064381	+	Missense_Mutation	SNP	C	C	T	rs59730832	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr20:30064381C>T	ENST00000201979.2	+	2	426	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	45			R -> W (in dbSNP:rs59730832).		small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCAGCATCCCCGGCTGGGCCA	0.652000													19	60					0	0	1	0	0
BPIFA2	140683	broad.mit.edu	37	20	31765995	31765995	+	Silent	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr20:31765995C>T	ENST00000253362.2	+	6	752	c.606C>T	c.(604-606)aaC>aaT	p.N202N	BPIFA2_ENST00000354932.5_Silent_p.N202N			Q96DR5	SPLC2_HUMAN	BPI fold containing family A, member 2	202						extracellular region	lipid binding										GCGTGATCAACACGCTGAAAA	0.522000													46	69					0	0	1	0	0
PLA1A	51365	broad.mit.edu	37	3	119327728	119327728	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr3:119327728C>A	ENST00000273371.4	+	3	459	c.387C>A	c.(385-387)taC>taA	p.Y129*	PLA1A_ENST00000495992.1_Nonsense_Mutation_p.Y129*|PLA1A_ENST00000494440.1_Nonsense_Mutation_p.Y113*|PLA1A_ENST00000488919.1_5'UTR	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	129					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGGAGTCTACTTCTCAGCTG	0.453000													11	217					1.08611e-07	1.24635e-07	1	1	0
CAPN3	825	broad.mit.edu	37	15	42703181	42703181	+	Missense_Mutation	SNP	G	G	T	rs80338804		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr15:42703181G>T	ENST00000397163.3	+	22	2582	c.2363G>T	c.(2362-2364)aGg>aTg	p.R788M	CAPN3_ENST00000569136.1_Missense_Mutation_p.R123M|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000318023.7_Missense_Mutation_p.R782M|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000397200.4_Missense_Mutation_p.R276M|CAPN3_ENST00000397204.4_Missense_Mutation_p.R123M|CAPN3_ENST00000357568.3_Missense_Mutation_p.R782M|CAPN3_ENST00000356316.3_Missense_Mutation_p.R695M|CAPN3_ENST00000349748.3_Missense_Mutation_p.R696M|CAPN3_ENST00000337571.4_Missense_Mutation_p.R123M|CAPN3_ENST00000561817.1_Missense_Mutation_p.R123M	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	788	Domain IV.|EF-hand 4.				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)		TGCTTCGTTAGGCTGGAGGGC	0.517000													65	111					2.3778e-47	2.85336e-47	1	1	0
SDHAF2	54949	broad.mit.edu	37	11	61205474	61205474	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:61205474A>T	ENST00000301761.2	+	3	334		c.e3-1		SDHAF2_ENST00000543265.1_Intron|RP11-286N22.8_ENST00000543044.1_Splice_Site|SDHAF2_ENST00000537782.1_Splice_Site|SDHAF2_ENST00000542074.1_Intron|SDHAF2_ENST00000534878.1_Splice_Site|RP11-286N22.8_ENST00000544880.1_Splice_Site	NM_017841.2	NP_060311.1	Q9NX18	SDHF2_HUMAN	succinate dehydrogenase complex assembly factor 2						mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding			large_intestine(3)|lung(4)|ovary(2)	9						TCTTGTTTTTAGTCTTTTTGC	0.403000													7	343					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3205592	3205592	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr8:3205592A>T	ENST00000602557.1	-	23	3954	c.3399T>A	c.(3397-3399)taT>taA	p.Y1133*	CSMD1_ENST00000542608.1_Nonsense_Mutation_p.Y1132*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.Y1132*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.Y1133*|CSMD1_ENST00000520002.1_Nonsense_Mutation_p.Y1133*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.Y1132*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.Y1133*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1133	CUB 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTTCTATTTTATAGATACACT	0.383000													4	44					0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118969176	118969176	+	Missense_Mutation	SNP	G	G	A	rs139101102		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr10:118969176G>A	ENST00000334549.1	+	3	521	c.521G>A	c.(520-522)cGc>cAc	p.R174H		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	174						integral to membrane|plasma membrane		p.R174H(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TTCTTTACCCGCCCCCTCCTC	0.507000													21	83					0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36450762	36450762	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:36450762T>A	ENST00000265748.2	+	7	1603	c.1382T>A	c.(1381-1383)cTa>cAa	p.L461Q	ANLN_ENST00000396068.2_Missense_Mutation_p.L461Q|ANLN_ENST00000495714.1_3'UTR	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	461	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AGCAAACAACTAGAAACCAAA	0.363000													5	124					0	0	1	0	0
GK	2710	broad.mit.edu	37	X	30714802	30714802	+	Splice_Site	SNP	T	T	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chrX:30714802T>A	ENST00000378943.3	+	8	908		c.e8+2		GK_ENST00000378946.3_Splice_Site|GK_ENST00000427190.1_Splice_Site|GK_ENST00000378945.3_Splice_Site	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase						glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						GGCCTAATGGTAAAaaacaaa	0.274000													3	37					0	0	1	0	0
TXNDC15	79770	broad.mit.edu	37	5	134235291	134235291	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:134235291A>T	ENST00000358387.4	+	5	1624	c.999A>T	c.(997-999)ttA>ttT	p.L333F	TXNDC15_ENST00000546290.1_Missense_Mutation_p.L310F	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	333					cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TATTCTTTTTAATTAGTTTTA	0.403000													4	121					0	0	1	0	0
UBL7	84993	broad.mit.edu	37	15	74741614	74741614	+	Silent	SNP	C	C	T	rs143556298	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr15:74741614C>T	ENST00000567435.1	-	9	1258	c.795G>A	c.(793-795)cgG>cgA	p.R265R	UBL7_ENST00000361351.4_Silent_p.R265R|UBL7_ENST00000565335.1_Silent_p.R265R|UBL7_ENST00000395081.2_Silent_p.R265R|UBL7_ENST00000564488.1_Silent_p.R265R			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)	265							protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GGGTGATGGGCCGGGGCCCAG	0.647000													17	59					0	0	1	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140794345	140794345	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:140794345C>A	ENST00000398610.2	+	1	1603	c.1603C>A	c.(1603-1605)Cag>Aag	p.Q535K	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACAGATGCAGGTGACAGC	0.542000													5	162					0.184627	0.186403	1	1	0
ZAN	7455	broad.mit.edu	37	7	100349878	100349878	+	RNA	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:100349878C>T	ENST00000542585.1	+	0	2298				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_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		p.P717L(2)		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)			CCAGAAAAACCCACCATCCCC	0.507000													2	6					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36592993	36592993	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:36592993C>T	ENST00000401500.2	+	26	3195	c.3160C>T	c.(3160-3162)Ccg>Tcg	p.P1054S	WDR62_ENST00000270301.7_Missense_Mutation_p.P1054S	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	1054					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)			ACCCCAGACTCCGGAGCAGGA	0.652000													8	96					0	0	1	0	0
PANX1	24145	broad.mit.edu	37	11	93912962	93912962	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:93912962G>A	ENST00000227638.3	+	4	1125	c.740G>A	c.(739-741)aGc>aAc	p.S247N	PANX1_ENST00000436171.2_Missense_Mutation_p.S247N	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	247					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTTGTGTGCAGCATCAAATCA	0.493000													4	261					0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	31904239	31904239	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr22:31904239A>T	ENST00000432498.1	+	2	363		c.e2-1		SFI1_ENST00000400288.2_Splice_Site|SFI1_ENST00000400289.1_Intron|SFI1_ENST00000414585.1_Splice_Site|SFI1_ENST00000443011.1_Splice_Site|SFI1_ENST00000443326.1_Splice_Site|SFI1_ENST00000540643.1_Splice_Site	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)						G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TTTTTCTTGTAGTTAGAAGGG	0.378000													4	80					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93756124	93756124	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr10:93756124A>T	ENST00000265990.6	+	24	3617		c.e24-1			NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa						negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTTTGTTTTTAGTTGGTCCAG	0.358000													4	65					0	0	1	0	0
CTNNA1	1495	broad.mit.edu	37	5	138266608	138266608	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:138266608G>A	ENST00000302763.7	+	16	2372	c.2282G>A	c.(2281-2283)cGc>cAc	p.R761H	CTNNA1_ENST00000518825.1_Missense_Mutation_p.R761H|CTNNA1_ENST00000355078.5_Missense_Mutation_p.R658H|CTNNA1_ENST00000540387.1_Missense_Mutation_p.R391H	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	761					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGCTTGGCCGCACCATTGCA	0.532000													4	129					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50893343	50893343	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr22:50893343C>T	ENST00000380817.2	-	35	4895	c.4712G>A	c.(4711-4713)aGg>aAg	p.R1571K	SBF1_ENST00000390679.3_Missense_Mutation_p.R1545K|SBF1_ENST00000348911.6_Missense_Mutation_p.R1546K	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1545	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	p.R1571K(1)|p.R1545K(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CACCTGGCCCCTGCGTTCCCC	0.637000													8	23					0	0	1	0	0
KIF22	3835	broad.mit.edu	37	16	29810978	29810978	+	Silent	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:29810978C>T	ENST00000561482.1	+	7	1453	c.816C>T	c.(814-816)atC>atT	p.I272I	KIF22_ENST00000160827.4_Silent_p.I340I|KIF22_ENST00000569382.2_Silent_p.I272I|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Silent_p.I272I|KIF22_ENST00000563263.1_3'UTR	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	340	Kinesin-motor.				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						CCCACAGTATCCTTATTGCCA	0.557000													9	50					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122033517	122033517	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:122033517G>A	ENST00000334010.7	-	19	3281	c.2860C>T	c.(2860-2862)Cag>Tag	p.Q954*	RP5-1101C3.1_ENST00000593910.1_RNA|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000449022.2_Nonsense_Mutation_p.Q956*|CADPS2_ENST00000412584.2_Nonsense_Mutation_p.Q950*|CADPS2_ENST00000313070.7_Nonsense_Mutation_p.Q950*	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	956	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CATGTCTCCTGCTCAAAACCT	0.473000													5	249					0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40049295	40049295	+	Missense_Mutation	SNP	T	T	G	rs144101604		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:40049295T>G	ENST00000352035.2	-	15	1722	c.1592A>C	c.(1591-1593)tAc>tCc	p.Y531S	ACLY_ENST00000393896.2_Missense_Mutation_p.Y521S|ACLY_ENST00000537919.1_Missense_Mutation_p.Y260S|ACLY_ENST00000590151.1_Missense_Mutation_p.Y531S|ACLY_ENST00000353196.1_Missense_Mutation_p.Y521S	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	531					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	p.Y531S(1)	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)				CGTGAAAGGGTAGACCATGGC	0.577000													28	69					0	0	1	0	0
GUF1	60558	broad.mit.edu	37	4	44696427	44696427	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr4:44696427A>T	ENST00000281543.5	+	14	1807		c.e14-1		GUF1_ENST00000506793.1_Splice_Site	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)						translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TTTTCCTTTTAGTTTTGATTA	0.343000													4	40					0	0	1	0	0
KCNRG	283518	broad.mit.edu	37	13	50594550	50594550	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr13:50594550A>G	ENST00000312942.1	+	2	1019	c.779A>G	c.(778-780)gAg>gGg	p.E260G	KCNRG_ENST00000360473.4_3'UTR|TRIM13_ENST00000478111.1_3'UTR	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	260						voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity	p.E260G(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		CCAAAACCAGAGACTATCATC	0.353000													22	98					0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67644821	67644821	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:67644821G>A	ENST00000264010.4	+	3	530	c.86G>A	c.(85-87)cGg>cAg	p.R29Q	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	29					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CAGAGACGCCGGGAAGGGGGC	0.522000													3	80					0	0	1	0	0
USP44	84101	broad.mit.edu	37	12	95927476	95927476	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:95927476A>T	ENST00000258499.3	-	2	845	c.557T>A	c.(556-558)gTa>gAa	p.V186E	USP44_ENST00000537435.2_Missense_Mutation_p.V186E|USP44_ENST00000552440.1_Missense_Mutation_p.V186E|USP44_ENST00000393091.2_Missense_Mutation_p.V186E	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	186					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						TTCTCTTTTTACTACTATTTT	0.363000													4	102					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30033987	30033987	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:30033987C>T	ENST00000328224.6	-	2	1472	c.239G>A	c.(238-240)cGg>cAg	p.R80Q		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	80						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CCGACTACCCCGGCTGCTCTG	0.642000													3	113					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42738800	42738800	+	Silent	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr15:42738800A>T	ENST00000263805.4	-	4	3449	c.3123T>A	c.(3121-3123)atT>atA	p.I1041I	ZNF106_ENST00000565611.1_Silent_p.I226I|ZNF106_ENST00000565380.1_Silent_p.I269I	NM_022473.1	NP_071918.1			zinc finger protein 106																		TTTTTCCTTTAATTTTCCTTC	0.358000													3	14					0	0	1	0	0
PRCC	5546	broad.mit.edu	37	1	156767110	156767110	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:156767110C>A	ENST00000271526.4	+	6	1638	c.1366C>A	c.(1366-1368)Cag>Aag	p.Q456K	PRCC_ENST00000353233.3_Missense_Mutation_p.Q424K	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	456					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	p.Q456K(1)	PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCGGAAACACCAGATCACATA	0.463000			T	TFE3	papillary renal						OREG0013886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	166					0.00010058	0.000108317	1	1	0
STIP1	10963	broad.mit.edu	37	11	63971042	63971042	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:63971042G>A	ENST00000358794.5	+	13	2201	c.1648G>A	c.(1648-1650)Gcc>Acc	p.A550T	STIP1_ENST00000538945.1_Missense_Mutation_p.A479T|STIP1_ENST00000305218.4_Missense_Mutation_p.A503T			P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	503					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						GAGTGACCCAGCCATGCGCCT	0.587000													5	257					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53071532	53071532	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr8:53071532T>C	ENST00000276480.7	-	15	2415	c.1732A>G	c.(1732-1734)Atc>Gtc	p.I578V		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	578						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGGTTCAGGATGGCAGCAGCT	0.597000													24	123					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3641179	3641179	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:3641179C>A	ENST00000294008.3	-	12	3100	c.2460G>T	c.(2458-2460)agG>agT	p.R820S		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	820	Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	p.R820S(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCCACATTGACCTCAAGAGTT	0.478000								Direct reversal of damage					46	123					1.15181e-12	1.34377e-12	1	1	0
DHX35	60625	broad.mit.edu	37	20	37620095	37620095	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr20:37620095A>T	ENST00000252011.3	+	6	483		c.e6-1		DHX35_ENST00000373323.4_Splice_Site|DHX35_ENST00000373325.2_Splice_Site	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35							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)				TTTATTTTTTAGTTTCTTACT	0.313000													4	134					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7172406	7172406	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:7172406A>T	ENST00000406697.1	+	9	1148	c.520A>T	c.(520-522)Aat>Tat	p.N174Y	C1S_ENST00000328916.3_Missense_Mutation_p.N174Y|C1S_ENST00000402681.3_Missense_Mutation_p.N7Y|C1S_ENST00000360817.5_Missense_Mutation_p.N174Y			P09871	C1S_HUMAN	complement component 1, s subcomponent	174					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TCTGTTAGTTAATTGCAGTGG	0.423000													4	113					0	0	1	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773519	35773519	+	Silent	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:35773519C>A	ENST00000360215.1	+	1	449	c.72C>A	c.(70-72)gcC>gcA	p.A24A	LHFPL5_ENST00000373853.1_Silent_p.A24A	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	24						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						ACTCGCGAGCCGTGGGCGTGA	0.617000													3	72					1	1	1	1	0
MADD	8567	broad.mit.edu	37	11	47298402	47298402	+	Silent	SNP	A	A	G	rs34602269	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:47298402A>G	ENST00000342922.4	+	5	1440	c.1083A>G	c.(1081-1083)gcA>gcG	p.A361A	MADD_ENST00000407859.3_Silent_p.A361A|MADD_ENST00000406482.1_Silent_p.A361A|MADD_ENST00000349238.3_Silent_p.A361A|MADD_ENST00000402799.1_Silent_p.A361A|MADD_ENST00000395336.3_Silent_p.A361A|MADD_ENST00000311027.5_Silent_p.A361A|MADD_ENST00000395344.3_Silent_p.A361A|MADD_ENST00000402192.2_Silent_p.A361A|MADD_ENST00000489415.1_3'UTR	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	361	DENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCTGCATGGCATCAGCAGAGC	0.512000													6	91					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209104723	209104723	+	Nonsense_Mutation	SNP	A	A	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:209104723A>C	ENST00000415913.1	-	8	1236	c.855T>G	c.(853-855)taT>taG	p.Y285*	IDH1_ENST00000345146.2_Nonsense_Mutation_p.Y285*|IDH1_ENST00000446179.1_Nonsense_Mutation_p.Y285*			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	285					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.Y285*(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		CGAGAGAGCCATACCCTGTAA	0.517000			Mis		gliobastoma								33	100					0	0	1	0	0
C4BPB	725	broad.mit.edu	37	1	207263815	207263815	+	Missense_Mutation	SNP	C	C	T	rs146047392		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:207263815C>T	ENST00000243611.5	+	2	515	c.221C>T	c.(220-222)aCt>aTt	p.T74I	C4BPB_ENST00000391923.1_Missense_Mutation_p.T74I|C4BPB_ENST00000451804.2_Missense_Mutation_p.T64I|C4BPB_ENST00000367078.3_Missense_Mutation_p.T74I|C4BPB_ENST00000367076.3_Missense_Mutation_p.T73I	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	74	Sushi 1.				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						AACACCACTACTGAGTGCCGC	0.433000													6	100					0	0	1	0	0
AOC2	314	broad.mit.edu	37	17	40997811	40997811	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:40997811C>T	ENST00000253799.3	+	1	1195	c.1168C>T	c.(1168-1170)Cga>Tga	p.R390*	AOC2_ENST00000452774.2_Nonsense_Mutation_p.R390*	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	390					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CCGTAACAGCCGAGGCTTGGT	0.552000													3	117					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347033	71347033	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr4:71347033C>T	ENST00000413702.1	+	4	860	c.572C>T	c.(571-573)gCc>gTc	p.A191V	MUC7_ENST00000456088.1_Missense_Mutation_p.A191V|MUC7_ENST00000304887.5_Missense_Mutation_p.A191V	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	191	Thr-rich.					extracellular region	protein binding	p.A191V(1)		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)			ACCACAGCTGCCCCACCCACA	0.587000													4	141					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21938988	21938988	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:21938988G>T	ENST00000328843.6	+	81	13136	c.13105G>T	c.(13105-13107)Gat>Tat	p.D4369Y	DNAH11_ENST00000409508.3_Missense_Mutation_p.D4362Y			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4369					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCGAGAACTCGATACTTGGAC	0.502000									Kartagener syndrome				9	292					5.16669e-11	5.9945e-11	1	1	0
RSU1	6251	broad.mit.edu	37	10	16824085	16824085	+	Splice_Site	SNP	T	T	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr10:16824085T>A	ENST00000377921.3	-	2	411		c.e2-2		RSU1_ENST00000464074.2_Intron|RSU1_ENST00000602389.1_Splice_Site|RSU1_ENST00000345264.5_Splice_Site			Q15404	RSU1_HUMAN	Ras suppressor protein 1						cell junction assembly|signal transduction	cytosol	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		ATAAGGTAACTAAAAAGAAAA	0.358000													6	129					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13769424	13769424	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:13769424C>A	ENST00000279593.3	-	5	1502	c.1293G>T	c.(1291-1293)agG>agT	p.R431S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	431					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R431S(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGACTGTGTTCCTCATGCAGG	0.517000													37	283					1.59361e-14	1.89072e-14	1	1	0
SETD2	29072	broad.mit.edu	37	3	47098361	47098361	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr3:47098361C>A	ENST00000409792.3	-	15	6955	c.6913G>T	c.(6913-6915)Gtc>Ttc	p.V2305F		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2305	Gln-rich.|Low charge region.				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)		ACACCATAGACTGTTGGACAT	0.413000			"""N, F, S, Mis"""		clear cell renal carcinoma								3	129					0.00909568	0.00940932	1	1	0
ZNF451	26036	broad.mit.edu	37	6	57025930	57025930	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:57025930A>G	ENST00000370706.4	+	14	3363	c.3119A>G	c.(3118-3120)gAa>gGa	p.E1040G	RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.E992G|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	1040					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TCAATAGGAGAAGAATTTATA	0.313000													34	70					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114279032	114279032	+	Silent	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr4:114279032G>A	ENST00000357077.4	+	38	9311	c.9258G>A	c.(9256-9258)agG>agA	p.R3086R	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Silent_p.R3053R|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3053					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.R3086R(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)		CTCCTGCTAGGACCCCAACTG	0.463000													8	190					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626754	108626754	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:108626754G>T	ENST00000264047.2	+	9	1456	c.1180G>T	c.(1180-1182)Gcc>Tcc	p.A394S	SLC5A7_ENST00000540517.1_Missense_Mutation_p.A289S|SLC5A7_ENST00000409059.1_Missense_Mutation_p.A394S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	394					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ATCTGCAACAGCCATGGCCTT	0.458000													20	190					8.34094e-07	9.41719e-07	1	1	0
DMXL1	1657	broad.mit.edu	37	5	118525401	118525401	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:118525401A>T	ENST00000311085.8	+	29	7215		c.e29-1		DMXL1_ENST00000539542.1_Splice_Site	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1											breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TCTTTTTGTTAGTTTCTTCAC	0.368000													11	198					0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294708	124294708	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:124294708C>G	ENST00000356130.3	-	1	81	c.60G>C	c.(58-60)caG>caC	p.Q20H		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	20					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)		GGAGCTCTGGCTGTTCTGATA	0.473000													10	218					0	0	1	0	0
PROKR1	10887	broad.mit.edu	37	2	68882419	68882419	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:68882419C>T	ENST00000303786.3	+	3	1313	c.893C>T	c.(892-894)gCg>gTg	p.A298V	PROKR1_ENST00000394342.2_Missense_Mutation_p.A298V			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	298						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.A298V(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTATGCTGGGCGCCCTTCTAC	0.597000													49	197					0	0	1	0	0
LPCAT3	10162	broad.mit.edu	37	12	7087581	7087581	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:7087581A>G	ENST00000261407.4	-	9	1047	c.962T>C	c.(961-963)gTg>gCg	p.V321A	U47924.19_ENST00000564245.1_RNA|LPCAT3_ENST00000535021.1_Splice_Site	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	321					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity	p.V321A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AAAGAGCCACACCTTCATGTT	0.547000													63	174					0	0	1	0	0
LY6G5C	80741	broad.mit.edu	37	6	31647002	31647002	+	Silent	SNP	T	T	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:31647002T>C	ENST00000375858.3	-	2	164	c.156A>G	c.(154-156)ccA>ccG	p.P52P	LY6G5C_ENST00000474395.1_5'UTR|LY6G5C_ENST00000383237.4_Silent_p.P55P|LY6G5C_ENST00000375860.2_Silent_p.P53P	NM_025262.3	NP_079538.3	Q5SRR4	LY65C_HUMAN	lymphocyte antigen 6 complex, locus G5C	55						extracellular region				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						ATTTGGGGAATGGAAGTGGTT	0.547000													6	387					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73063082	73063082	+	RNA	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chrX:73063082C>T	ENST00000429829.1	-	0	9506					NR_001564.2																						CAGAAGGAGACATATATAATT	0.448000													14	47					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4924902	4924902	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chrY:4924902C>T	ENST00000362095.5	+	1	772	c.38C>T	c.(37-39)tCt>tTt	p.S13F	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.S13F|PCDH11Y_ENST00000333703.4_Intron	NM_032972.2	NP_116754.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	13					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCTTCTTCCTCTTCTCTCTCT	0.373000													4	40					0	0	1	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73491164	73491164	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr14:73491164C>A	ENST00000556143.1	-	2	773	c.53G>T	c.(52-54)tGc>tTc	p.C18F	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.C18F|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.C18F	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	18						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		ACTTTCCTGGCACATCAGCCC	0.547000													3	61					0.115264	0.117502	1	1	0
SIK3	23387	broad.mit.edu	37	11	116730108	116730108	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:116730108C>T	ENST00000375300.1	-	19	2499	c.2494G>A	c.(2494-2496)Ggc>Agc	p.G832S	SIK3_ENST00000434315.2_Missense_Mutation_p.G673S|SIK3_ENST00000446921.2_Missense_Mutation_p.G832S|SIK3_ENST00000375288.1_Missense_Mutation_p.G169S|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000292055.4_Missense_Mutation_p.G774S|SIK3_ENST00000542607.1_Missense_Mutation_p.G774S			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	774	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						ATGGAGATGCCGCGCCCACTG	0.607000											OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	3	104					0	0	1	0	0
DNAJA2	10294	broad.mit.edu	37	16	47005387	47005387	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:47005387C>T	ENST00000317089.5	-	3	451	c.236G>A	c.(235-237)gGc>gAc	p.G79D		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	79					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				ACCACCTCCGCCGCTGCCTTC	0.438000													5	296					0	0	1	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145474664	145474664	+	Silent	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:145474664C>A	ENST00000323397.4	+	4	2629	c.1336C>A	c.(1336-1338)Cgg>Agg	p.R446R		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	446	Pro-rich.									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)					ACCCGGAGGTCGGGCGCCTTC	0.642000													8	44					1.76689e-08	2.03872e-08	1	1	0
PLXNA4	91584	broad.mit.edu	37	7	131883287	131883287	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:131883287C>T	ENST00000359827.3	-	13	3657	c.2695G>A	c.(2695-2697)Gtg>Atg	p.V899M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.V899M			Q9HCM2	PLXA4_HUMAN	plexin A4	899	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTGCACTCCACGCCAGCAACC	0.577000													3	103					0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43498583	43498583	+	Silent	SNP	G	G	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr15:43498583G>C	ENST00000300215.3	-	10	2110	c.1653C>G	c.(1651-1653)gtC>gtG	p.V551V	EPB42_ENST00000563128.1_5'UTR|EPB42_ENST00000540029.1_Silent_p.V443V|EPB42_ENST00000441366.2_Silent_p.V521V			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	521					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TGGCAGCAAGGACACCGTTGT	0.582000													14	155					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17264804	17264804	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:17264804A>T	ENST00000595618.1	+	5	1178	c.1026A>T	c.(1024-1026)ttA>ttT	p.L342F	MYO9B_ENST00000594824.1_Missense_Mutation_p.L342F|CTD-3032J10.2_ENST00000599360.1_RNA|CTD-3032J10.2_ENST00000597216.1_RNA|MYO9B_ENST00000397274.2_Missense_Mutation_p.L342F	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	342	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ATTATTTGTTACTTGGGGTCA	0.438000													5	139					0	0	1	0	0
FOXRED2	80020	broad.mit.edu	37	22	36901978	36901978	+	Silent	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr22:36901978G>T	ENST00000397224.4	-	2	585	c.492C>A	c.(490-492)atC>atA	p.I164I	FOXRED2_ENST00000397223.4_Silent_p.I164I|FOXRED2_ENST00000216187.6_Silent_p.I164I	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	164					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGTCAGTTAGGATGAAGTAGT	0.607000													5	252					1.23904e-05	1.34818e-05	1	1	0
REV3L	5980	broad.mit.edu	37	6	111694794	111694794	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:111694794A>T	ENST00000435970.1	-	15	5346	c.4530T>A	c.(4528-4530)agT>agA	p.S1510R	REV3L_ENST00000368805.1_Missense_Mutation_p.S1588R|REV3L_ENST00000368802.3_Missense_Mutation_p.S1588R|REV3L_ENST00000358835.3_Missense_Mutation_p.S1588R			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1588					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTTGTTTTGTACTTCTGGGAG	0.368000								DNA polymerases (catalytic subunits)					8	245					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48703292	48703292	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr15:48703292A>T	ENST00000316623.5	-	66	8966	c.8511T>A	c.(8509-8511)taT>taA	p.Y2837*		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2837					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTTTCTTTTTATAAAGTGGAG	0.378000													4	126					0	0	1	0	0
AMBP	259	broad.mit.edu	37	9	116823210	116823210	+	Missense_Mutation	SNP	C	C	G	rs150141433		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr9:116823210C>G	ENST00000265132.3	-	9	1284	c.1022G>C	c.(1021-1023)gGt>gCt	p.G341A		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	341					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CCTACCATCACCAGGGACACC	0.632000													3	146					0	0	1	0	0
LYSMD1	388695	broad.mit.edu	37	1	151134308	151134308	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:151134308T>A	ENST00000368908.5	-	2	1109	c.449A>T	c.(448-450)cAt>cTt	p.H150L	LYSMD1_ENST00000440902.2_Missense_Mutation_p.H102L	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1	150					cell wall macromolecule catabolic process					endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	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)			AGAGAGGTCATGGATGGGCGT	0.527000													8	448					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11308051	11308051	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:11308051G>T	ENST00000361445.4	-	7	1017	c.941C>A	c.(940-942)aCc>aAc	p.T314N		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	314					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GGTGAAGGGGGTAATGTGACG	0.532000													11	175					1.58986e-06	1.78541e-06	1	1	0
FLOT1	10211	broad.mit.edu	37	6	30708318	30708318	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:30708318A>C	ENST00000376389.3	-	7	745	c.525T>G	c.(523-525)gaT>gaG	p.D175E	FLOT1_ENST00000456573.2_Missense_Mutation_p.D127E|FLOT1_ENST00000470643.1_5'UTR	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN	flotillin 1	175						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						CAATCCGTGCATCTTTTTGGA	0.507000													3	65					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37271845	37271845	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:37271845C>A	ENST00000373091.3	-	14	2190	c.2174G>T	c.(2173-2175)gGc>gTc	p.G725V	GRIK3_ENST00000373093.4_Missense_Mutation_p.G725V	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	725					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CCTCTGGATGCCCTCCTCGTT	0.607000													15	132					8.00594e-06	8.84867e-06	1	1	0
C2CD3	26005	broad.mit.edu	37	11	73850649	73850649	+	Splice_Site	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:73850649C>T	ENST00000334126.7	-	4	934		c.e4+1		C2CD3_ENST00000313663.7_Splice_Site|C2CD3_ENST00000539061.1_Splice_Site			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3							centrosome		p.?(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ATGGTAATTACCTCGGAGTGG	0.408000													142	621					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20552448	20552448	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr4:20552448A>T	ENST00000504154.1	+	25	2741		c.e25-1		SLIT2_ENST00000273739.5_Splice_Site|SLIT2_ENST00000503823.1_Splice_Site|SLIT2_ENST00000503837.1_Splice_Site|SLIT2_ENST00000509394.2_Splice_Site	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)						apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCTTTCTTTTAGTTCTCTACA	0.313000													4	89					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58120374	58120374	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr3:58120374G>T	ENST00000357272.4	+	27	4711	c.4546G>T	c.(4546-4548)Gat>Tat	p.D1516Y	FLNB_ENST00000419752.2_Missense_Mutation_p.D1347Y|FLNB_ENST00000429972.2_Missense_Mutation_p.D1516Y|FLNB_ENST00000348383.5_Missense_Mutation_p.D1516Y|FLNB_ENST00000358537.3_Missense_Mutation_p.D1516Y|FLNB_ENST00000295956.4_Missense_Mutation_p.D1516Y|FLNB_ENST00000490882.1_Missense_Mutation_p.D1547Y|FLNB_ENST00000493452.1_Missense_Mutation_p.D1347Y			O75369	FLNB_HUMAN	filamin B, beta	1516					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)		TCCCACATATGATGCCAGCAA	0.512000													5	244					1.23904e-05	1.34818e-05	1	1	0
PRPF3	9129	broad.mit.edu	37	1	150312902	150312902	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:150312902T>C	ENST00000324862.6	+	9	1396	c.1231T>C	c.(1231-1233)Tat>Cat	p.Y411H	PRPF3_ENST00000414970.2_Missense_Mutation_p.Y362H|PRPF3_ENST00000543398.1_Missense_Mutation_p.L274S|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	411					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GAGAGAAGATTATTTTGGAAT	0.388000													5	44					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957371	35957371	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:35957371G>T	ENST00000274278.3	-	5	1351	c.994C>A	c.(994-996)Cag>Aag	p.Q332K	UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.Q298K|UGT3A1_ENST00000503189.1_Missense_Mutation_p.Q332K	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	332						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAGAACTCTGACATGTCCAT	0.502000													4	143					0.150653	0.152837	1	1	0
DQX1	165545	broad.mit.edu	37	2	74745642	74745642	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:74745642C>T	ENST00000404568.3	-	12	2304	c.2085G>A	c.(2083-2085)atG>atA	p.M695I	DQX1_ENST00000393951.2_Missense_Mutation_p.M695I	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	695						nucleus	ATP binding|helicase activity|nucleic acid binding	p.M577I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TAGAATCTGCCATTCCTTCCC	0.532000													44	60					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18847883	18847883	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:18847883A>T	ENST00000447925.2	-	12	1685	c.1416T>A	c.(1414-1416)agT>agA	p.S472R	PLCZ1_ENST00000435379.1_Missense_Mutation_p.S279R|PLCZ1_ENST00000541695.1_Missense_Mutation_p.S337R|PLCZ1_ENST00000538330.1_Missense_Mutation_p.S256R|PLCZ1_ENST00000534932.1_5'UTR|PLCZ1_ENST00000539875.1_Missense_Mutation_p.S281R|PLCZ1_ENST00000266505.7_Missense_Mutation_p.S474R	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	474	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CTTTTATGTTACTTGGGTTAA	0.289000													6	133					0	0	1	0	0
SPAG9	9043	broad.mit.edu	37	17	49098649	49098649	+	Silent	SNP	T	T	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:49098649T>C	ENST00000262013.7	-	7	1069	c.861A>G	c.(859-861)acA>acG	p.T287T	SPAG9_ENST00000510283.1_Silent_p.T130T|SPAG9_ENST00000505279.1_Silent_p.T273T|SPAG9_ENST00000357122.4_Silent_p.T273T	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	287					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		p.T273T(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CAGTAGGAATTGTTGCCACAT	0.378000													58	191					0	0	1	0	0
ZNF395	55893	broad.mit.edu	37	8	28209093	28209093	+	Silent	SNP	C	C	T	rs145491469	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr8:28209093C>T	ENST00000344423.5	-	7	1283	c.1152G>A	c.(1150-1152)ccG>ccA	p.P384P	ZNF395_ENST00000523202.1_Silent_p.P384P|ZNF395_ENST00000523095.1_Silent_p.P384P	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	384					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGGAGGACTCCGGGCCAGGAT	0.642000													5	85					0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15537959	15537959	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:15537959C>A	ENST00000389282.4	-	6	3699	c.3486G>T	c.(3484-3486)aaG>aaT	p.K1162N	WIZ_ENST00000599910.1_Missense_Mutation_p.K479N|WIZ_ENST00000599686.2_Missense_Mutation_p.K346N|WIZ_ENST00000545156.1_Missense_Mutation_p.K476N|WIZ_ENST00000263381.6_Missense_Mutation_p.K305N			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1162	Pro-rich.					nucleus	zinc ion binding	p.K476N(1)|p.K305N(1)|p.K1162N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CTGGGAACATCTTTCGGGCCG	0.622000													3	27					0.115264	0.117502	1	1	0
PIAS1	8554	broad.mit.edu	37	15	68438152	68438152	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr15:68438152A>T	ENST00000545237.1	+	6	1349		c.e6-1		PIAS1_ENST00000249636.6_Splice_Site			O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1						androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						TTTATTGTTTAGGTTTTGTTT	0.308000													4	103					0	0	1	0	0
NCKAP1	10787	broad.mit.edu	37	2	183817923	183817923	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:183817923C>G	ENST00000360982.2	-	22	3066	c.2308G>C	c.(2308-2310)Gta>Cta	p.V770L	NCKAP1_ENST00000361354.3_Missense_Mutation_p.V764L	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	764					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTATTAAATACTCTTGTAATA	0.348000													4	112					0	0	1	0	0
SOAT1	6646	broad.mit.edu	37	1	179319429	179319429	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:179319429A>T	ENST00000367619.3	+	14	1457		c.e14-1		SOAT1_ENST00000539888.1_Splice_Site|SOAT1_ENST00000535686.1_Splice_Site|SOAT1_ENST00000540564.1_Splice_Site	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1						cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	CTTTTTCTTTAGTTTTTCTCC	0.333000													5	112					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	8998036	8998036	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:8998036A>T	ENST00000299698.7	+	13	1656		c.e13-1		A2ML1_ENST00000539547.1_Splice_Site|A2ML1_ENST00000540049.1_3'UTR	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1							extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TTTCTTCTTTAGTTAATAGGG	0.428000													5	161					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56571836	56571836	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:56571836T>A	ENST00000394023.3	-	15	1457	c.1352A>T	c.(1351-1353)aAc>aTc	p.N451I	SMARCC2_ENST00000347471.4_Missense_Mutation_p.N451I|SMARCC2_ENST00000267064.4_Missense_Mutation_p.N451I|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.N451I	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	451	SWIRM.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GTTCTTGCCGTTGAAGAACTC	0.507000													3	57					0	0	1	0	0
PREP	5550	broad.mit.edu	37	6	105800954	105800954	+	Splice_Site	SNP	T	T	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													4	75					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	63					0	0	1	0	0
FUT6	2528	broad.mit.edu	37	19	5831521	5831521	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:5831521C>T	ENST00000318336.4	-	3	2252	c.1058G>A	c.(1057-1059)gGc>gAc	p.G353D	FUT6_ENST00000592563.1_Intron|FUT6_ENST00000527106.1_Missense_Mutation_p.G353D|FUT6_ENST00000286955.5_Missense_Mutation_p.G353D|FUT6_ENST00000524754.1_Missense_Mutation_p.G353D	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	353					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						AGCCGCTATGCCGCGTGTCTG	0.632000													3	57					0	0	1	0	0
MTFR1	9650	broad.mit.edu	37	8	66621209	66621209	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr8:66621209A>T	ENST00000262146.4	+	8	1059		c.e8-1		MTFR1_ENST00000458689.2_Splice_Site	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1							mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GTTTGTTTCTAGTTTGGGCCA	0.403000													4	117					0	0	1	0	0
C16orf87	388272	broad.mit.edu	37	16	46865045	46865045	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:46865045G>A	ENST00000394806.2	-	1	29	c.17C>T	c.(16-18)gCc>gTc	p.A6V	C16orf87_ENST00000285697.4_Missense_Mutation_p.A6V			Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	6										large_intestine(4)|urinary_tract(1)	5						CACTTTCTTGGCTCGAGTTGC	0.711000													3	35					0	0	1	0	0
HOXD11	3237	broad.mit.edu	37	2	176973786	176973786	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:176973786A>C	ENST00000249504.5	+	2	1003	c.933A>C	c.(931-933)aaA>aaC	p.K311N	HOXD11_ENST00000498438.1_3'UTR|HOXD10_ENST00000490088.2_3'UTR	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	homeobox D11	311						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		GGCAAGTCAAAATCTGGTTCC	0.453000			T	NUP98	AML								5	320					0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117097933	117097933	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:117097933C>T	ENST00000320934.3	-	5	1339	c.709G>A	c.(709-711)Gcg>Acg	p.A237T		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	237	Catalytic.				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)		GGCACAGCCGCGATCTCTCCT	0.607000			T	IGH@	MLCLS								7	462					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	103903622	103903622	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chrX:103903622G>T	ENST00000372582.1	+	2	784	c.28G>T	c.(28-30)Gtg>Ttg	p.V10L	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.V10L	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	10					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTTGGCCCTTGTGGTCTGTTC	0.398000													4	155					0.00909568	0.00940932	1	1	0
UBE4A	9354	broad.mit.edu	37	11	118245844	118245844	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:118245844C>A	ENST00000252108.3	+	9	1481	c.1350C>A	c.(1348-1350)tgC>tgA	p.C450*	UBE4A_ENST00000431736.2_Nonsense_Mutation_p.C457*	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	450					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AGCCATTTTGCAAACCCAGAT	0.443000													12	103					9.31168e-06	1.0238e-05	1	1	0
SYT5	6861	broad.mit.edu	37	19	55686318	55686318	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:55686318G>A	ENST00000354308.3	-	7	1127	c.758C>T	c.(757-759)gCc>gTc	p.A253V	CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Missense_Mutation_p.A249V|SYT5_ENST00000537500.1_Missense_Mutation_p.A253V	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	253	C2 2.				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)		GAGCTTCCCGGCCGTGGGGAC	0.602000													4	144					0	0	1	0	0
ZNF836	162962	broad.mit.edu	37	19	52658790	52658790	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:52658790G>C	ENST00000322146.8	-	5	2667	c.2146C>G	c.(2146-2148)Cct>Gct	p.P716A	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.P716A	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	716					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P716A(2)|p.P716S(1)		endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCCCCAGTAGGATTTCTGTGA	0.398000													33	45					0	0	1	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464695	141464695	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:141464695A>T	ENST00000247879.2	+	1	799	c.737A>T	c.(736-738)tAc>tTc	p.Y246F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	246					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ttcttactttactttcttgct	0.418000													6	109					0	0	1	0	0
CLTB	1212	broad.mit.edu	37	5	175824632	175824632	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:175824632A>T	ENST00000310418.4	-	4	645	c.440T>A	c.(439-441)gTa>gAa	p.V147E	CLTB_ENST00000345807.2_Missense_Mutation_p.V147E	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	147	Involved in binding clathrin heavy chain.				intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		GTTCTTCTCTACTTGTTCACT	0.592000													4	117					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		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)		agcagcaacaacagcagcagc	0.567000													3	7					0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102295	22102295	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr14:22102295G>C	ENST00000542433.1	-	1	801	c.704C>G	c.(703-705)aCc>aGc	p.T235S		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T235S(1)		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)		CCCATCAGCGGTGCGTATCTT	0.542000													20	44					0	0	1	0	0
WDPCP	51057	broad.mit.edu	37	2	63719992	63719992	+	Missense_Mutation	SNP	G	G	A	rs149347732	by1000genomes	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:63719992G>A	ENST00000409562.3	-	2	404	c.158C>T	c.(157-159)gCg>gTg	p.A53V	WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000272321.7_Missense_Mutation_p.A53V			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	53					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TCATTTACCCGCAATGTGTAA	0.358000													5	193					0	0	1	0	0
ZAK	51776	broad.mit.edu	37	2	174055621	174055621	+	Splice_Site	SNP	A	A	T	rs67587107		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:174055621A>T	ENST00000338983.3	+	6	610		c.e6-1		MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000419609.1_RNA|MLTK_ENST00000409176.2_Splice_Site|MLTK_ENST00000375213.3_Splice_Site|MLTK_ENST00000480606.1_Splice_Site|MLTK_ENST00000431503.2_Splice_Site|MLTK_ENST00000539448.1_Splice_Site	NM_133646.2	NP_598407.1																					TTCTTTTTTTAGTTGTTATAG	0.279000													4	69					0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58558027	58558027	+	Missense_Mutation	SNP	C	C	G	rs149485584		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr20:58558027C>G	ENST00000348616.4	+	5	743	c.443C>G	c.(442-444)tCc>tGc	p.S148C	CDH26_ENST00000244047.5_Missense_Mutation_p.S148C	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	148	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S148C(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GTGGATACATCCTTGATTTTC	0.403000													4	164					0	0	1	0	0
RMND5B	64777	broad.mit.edu	37	5	177574737	177574737	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:177574737T>C	ENST00000515098.1	+	11	1322	c.971T>C	c.(970-972)aTt>aCt	p.I324T	RMND5B_ENST00000542098.1_Missense_Mutation_p.I311T|RMND5B_ENST00000313386.4_Missense_Mutation_p.I324T			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	324										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGATTGAGATTGAACTAGGC	0.582000													5	185					0	0	1	0	0
DNPEP	23549	broad.mit.edu	37	2	220239650	220239650	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:220239650G>C	ENST00000273075.4	-	14	1554	c.1334C>G	c.(1333-1335)cCc>cGc	p.P445R	DNPEP_ENST00000523282.1_Missense_Mutation_p.P453R|DNPEP_ENST00000490371.1_5'UTR|DNPEP_ENST00000373972.1_Missense_Mutation_p.P370R	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	435					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	GGCCAGTTGGGGGCTGCCTAA	0.607000													8	116					0	0	1	0	0
CDC42EP3	10602	broad.mit.edu	37	2	37873692	37873692	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:37873692A>T	ENST00000295324.3	-	2	1039	c.39T>A	c.(37-39)aaT>aaA	p.N13K	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.3	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	13					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				CTTTCTTGTTATTGGCTGCTT	0.448000													6	218					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24488133	24488133	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:24488133G>T	ENST00000264463.4	-	12	2513	c.2006C>A	c.(2005-2007)gCc>gAc	p.A669D	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	669					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GATATCAAAGGCCTGGGTGTC	0.463000										HNSCC(23;0.051)			17	114					3.99206e-14	4.68342e-14	1	1	0
MIR519B	574469	broad.mit.edu	37	19	54198466	54198466	+	RNA	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:54198466C>T	ENST00000385090.1	+	0	0					NR_030191.1																						CAAGAAGATCCCATGCTGTGA	0.403000													9	275					0	0	1	0	0
EHHADH	1962	broad.mit.edu	37	3	184966307	184966307	+	Splice_Site	SNP	T	T	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr3:184966307T>A	ENST00000231887.3	-	2	150		c.e2-2		EHHADH_ENST00000475987.1_Splice_Site|EHHADH_ENST00000456310.1_Splice_Site|EHHADH_ENST00000440662.1_Splice_Site	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase							peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	AAAGTCGTACTAAAAGAAAAC	0.323000													7	283					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46543778	46543778	+	Silent	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr13:46543778A>T	ENST00000242848.4	-	14	3249	c.2901T>A	c.(2899-2901)atT>atA	p.I967I	ZC3H13_ENST00000282007.3_Silent_p.I967I|ZC3H13_ENST00000378921.2_5'UTR			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	967	Lys-rich.			I -> K (in Ref. 3; CAD38544).			nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|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;4.18e-05)		TCTTTTTCTTAATTGGTTTCT	0.368000													8	343					0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2064624	2064624	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:2064624G>A	ENST00000280665.6	-	6	704	c.625C>T	c.(625-627)Caa>Taa	p.Q209*	DCP1B_ENST00000397173.4_Nonsense_Mutation_p.Q107*|DCP1B_ENST00000541700.1_Intron|DCP1B_ENST00000540622.1_Nonsense_Mutation_p.Q83*	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	209					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			ATACGCTGTTGCTGGTTTTCA	0.413000													66	416					0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6260632	6260632	+	Silent	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:6260632G>T	ENST00000379936.2	+	2	196	c.81G>T	c.(79-81)ctG>ctT	p.L27L	CNGA4_ENST00000533426.1_5'UTR	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	27					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)		TGCCTGTCCTGGACCCATCTG	0.488000													9	603					7.48243e-07	8.49357e-07	1	1	0
SRPR	6734	broad.mit.edu	37	11	126137176	126137176	+	Silent	SNP	T	T	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:126137176T>C	ENST00000332118.6	-	4	574	c.420A>G	c.(418-420)gaA>gaG	p.E140E	SRPR_ENST00000532259.1_Silent_p.E112E	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	140					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TTTCAGAATCTTCAAATTTCT	0.443000													4	204					0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34814686	34814686	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:34814686A>T	ENST00000265109.3	+	12	1139		c.e12-1		RAI14_ENST00000512629.1_Splice_Site|RAI14_ENST00000503673.1_Splice_Site|RAI14_ENST00000515799.1_Splice_Site|RAI14_ENST00000397449.1_Splice_Site|RAI14_ENST00000428746.2_Splice_Site|RAI14_ENST00000506376.1_Splice_Site	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14							cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TTTCTTTTTTAGTTGAGTGAT	0.368000													5	63					0	0	1	0	0
BCCIP	56647	broad.mit.edu	37	10	127522413	127522413	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr10:127522413G>T	ENST00000299130.3	+	6	684	c.672G>T	c.(670-672)aaG>aaT	p.K224N	BCCIP_ENST00000429863.2_Missense_Mutation_p.K194N|BCCIP_ENST00000368759.5_Missense_Mutation_p.K224N|BCCIP_ENST00000278100.6_Missense_Mutation_p.K224N	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	224	Interaction with CDKN1A.				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGATTAGTAAGACATTTGTGG	0.398000													10	146					3.07112e-06	3.4305e-06	1	1	0
MYO1D	4642	broad.mit.edu	37	17	30981510	30981510	+	Silent	SNP	G	G	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:30981510G>C	ENST00000318217.5	-	18	2779	c.2475C>G	c.(2473-2475)ggC>ggG	p.G825G	MYO1D_ENST00000579584.1_Silent_p.G825G|MYO1D_ENST00000394649.4_Silent_p.G737G|RP11-220C2.1_ENST00000582272.1_RNA	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	825						myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CAAGATAGTTGCCCTCCCAGG	0.493000													3	155					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105967448	105967448	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr10:105967448A>T	ENST00000357060.3	-	6	985	c.870T>A	c.(868-870)aaT>aaA	p.N290K	WDR96_ENST00000428666.1_Missense_Mutation_p.N290K|WDR96_ENST00000369719.1_Missense_Mutation_p.N220K|WDR96_ENST00000369720.1_Missense_Mutation_p.N220K|WDR96_ENST00000278064.2_Missense_Mutation_p.N220K	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	290										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTTCTATCTTATTAAGTACAG	0.393000													6	316					0	0	1	0	0
FCN1	2219	broad.mit.edu	37	9	137808248	137808248	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr9:137808248C>A	ENST00000371806.3	-	2	254	c.163G>T	c.(163-165)Ggg>Tgg	p.G55W		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	55	Collagen-like.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CCGGGCAGCCCCGGGCAGCCT	0.677000													6	172					0.0477658	0.0491706	1	1	0
C11orf30	56946	broad.mit.edu	37	11	76227234	76227234	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:76227234G>A	ENST00000529032.1	+	10	1562	c.1562G>A	c.(1561-1563)cGg>cAg	p.R521Q	C11orf30_ENST00000524490.1_Missense_Mutation_p.R437Q|C11orf30_ENST00000343878.3_Missense_Mutation_p.R521Q|C11orf30_ENST00000525919.1_Missense_Mutation_p.R522Q|C11orf30_ENST00000533248.1_Missense_Mutation_p.R535Q|C11orf30_ENST00000525038.1_Missense_Mutation_p.R536Q|C11orf30_ENST00000334736.3_Missense_Mutation_p.R521Q|C11orf30_ENST00000524767.1_Missense_Mutation_p.R536Q			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	521	Thr-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TCCATTGGTCGGATGGCTGCA	0.468000													3	95					0	0	1	0	0
CTSB	1508	broad.mit.edu	37	8	11703250	11703250	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr8:11703250C>T	ENST00000353047.6	-	9	1095	c.842G>A	c.(841-843)cGc>cAc	p.R281H	CTSB_ENST00000534510.1_Missense_Mutation_p.R281H|CTSB_ENST00000533455.1_Missense_Mutation_p.R281H|CTSB_ENST00000453527.2_Missense_Mutation_p.R281H|CTSB_ENST00000434271.1_Missense_Mutation_p.R281H|CTSB_ENST00000345125.3_Missense_Mutation_p.R281H|CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000531089.1_Missense_Mutation_p.R281H|CTSB_ENST00000530640.2_Missense_Mutation_p.R281H	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	281					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity	p.R281H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		GCCCAGGATGCGGATGGCATG	0.612000													20	65					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580570	7580570	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:7580570C>A	ENST00000379802.3	+	23	4488	c.4147C>A	c.(4147-4149)Cag>Aag	p.Q1383K	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1383	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCTCACCATGCAGAAGGAAGA	0.433000													11	147					0.000151284	0.000162091	1	1	0
CLSTN3	9746	broad.mit.edu	37	12	7288077	7288077	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:7288077A>G	ENST00000537408.1	+	3	1112	c.574A>G	c.(574-576)Atc>Gtc	p.I192V	CLSTN3_ENST00000266546.6_Missense_Mutation_p.I180V			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	180	Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.Q179>?(1)|p.I180V(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GTACAGCCAGATCTGCTACTA	0.582000													211	615					0	0	1	0	0
MRPL45	84311	broad.mit.edu	37	17	36453208	36453208	+	Missense_Mutation	SNP	T	T	C	rs149988943	by1000genomes	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:36453208T>C	ENST00000312513.5	+	1	220	c.59T>C	c.(58-60)tTt>tCt	p.F20S		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	20					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)				GGCTGGTGGTTTCGGCAGGTG	0.572000													5	102					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30747940	30747940	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:30747940G>T	ENST00000262518.4	+	33	7388	c.7003G>T	c.(7003-7005)Gca>Tca	p.A2335S	SRCAP_ENST00000395059.2_Missense_Mutation_p.A2273S|SRCAP_ENST00000344771.4_Missense_Mutation_p.A2177S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2335	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCTCAAACAGGCAGAAGTGAG	0.537000													7	143					3.09899e-07	3.53689e-07	1	1	0
DEFA5	1670	broad.mit.edu	37	8	6914167	6914167	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr8:6914167T>C	ENST00000330590.2	-	1	89	c.53A>G	c.(52-54)cAg>cGg	p.Q18R		NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN	defensin, alpha 5, Paneth cell-specific	18					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TGACTCAGCCTGGGCCTGCAG	0.582000													5	204					0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153417395	153417395	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:153417395A>T	ENST00000288670.9	+	6	810		c.e6-1			NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2						actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CTTTTGTTTTAGTTTTGACTT	0.428000													4	33					0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39525768	39525768	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:39525768G>A	ENST00000251646.3	-	1	284	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	79	Coil 1A.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GCGTTGTCCCGCTCCAGCTGA	0.607000													4	150					0	0	1	0	0
TMEM145	284339	broad.mit.edu	37	19	42819403	42819403	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:42819403A>T	ENST00000598766.1	+	7	641	c.641A>T	c.(640-642)tAc>tTc	p.Y214F	TMEM145_ENST00000301204.3_Missense_Mutation_p.Y190F			Q8NBT3	TM145_HUMAN	transmembrane protein 145	190						integral to membrane		p.Y190F(1)		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)				ctctcttGTTACTTTGGATGT	0.537000													8	271					0	0	1	0	0
WDR20	91833	broad.mit.edu	37	14	102676199	102676199	+	Splice_Site	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr14:102676199G>A	ENST00000335263.5	+	3	1772	c.1692_splice	c.e3+1	p.V564_splice	WDR20_ENST00000342702.3_Silent_p.V564V|WDR20_ENST00000454394.2_Silent_p.V595V|WDR20_ENST00000545563.1_Silent_p.V391V|WDR20_ENST00000424963.2_Silent_p.V440V|WDR20_ENST00000499851.2_Silent_p.V307V|WDR20_ENST00000556807.1_Splice_Site_p.V503_splice|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000556511.2_Silent_p.V503V|WDR20_ENST00000299135.6_3'UTR	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	564										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						CTGGTAAAGTGGTAAGTTTTA	0.408000													4	181					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45798245	45798245	+	Silent	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr22:45798245A>T	ENST00000357450.4	-	5	821	c.822T>A	c.(820-822)acT>acA	p.T274T	SMC1B_ENST00000404354.3_Silent_p.T274T	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	274					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GTAGTTGTCTAGTTAGCATTC	0.323000													5	95					0	0	1	0	0
LFNG	3955	broad.mit.edu	37	7	2552830	2552830	+	Silent	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:2552830G>A	ENST00000402506.1	+	2	213	c.87G>A	c.(85-87)agG>agA	p.R29R		NM_001166355.1	NP_001159827.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	0					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	p.R29R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		GCTCAGGAAGGCTGTGGGATG	0.532000													12	44					0	0	1	0	0
KANSL1L	151050	broad.mit.edu	37	2	211018808	211018808	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:211018808G>T	ENST00000281772.9	-	2	762	c.499C>A	c.(499-501)Caa>Aaa	p.Q167K	KANSL1L_ENST00000457374.1_Missense_Mutation_p.Q167K|KANSL1L_ENST00000452086.1_Missense_Mutation_p.Q167K|KANSL1L_ENST00000418791.1_Missense_Mutation_p.Q167K	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	167								p.Q167K(1)									TTTTGTAGTTGTACTTTATCT	0.333000													20	36					3.99206e-14	4.68342e-14	1	1	0
NCOA4	8031	broad.mit.edu	37	10	51580882	51580882	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr10:51580882A>T	ENST00000452682.1	+	5	585	c.333A>T	c.(331-333)ttA>ttT	p.L111F	NCOA4_ENST00000374087.4_Missense_Mutation_p.L95F|NCOA4_ENST00000443446.1_Missense_Mutation_p.L95F|NCOA4_ENST00000344348.6_Missense_Mutation_p.L95F|NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000438493.1_Missense_Mutation_p.L111F|NCOA4_ENST00000430396.2_Intron|NCOA4_ENST00000374082.1_Missense_Mutation_p.L95F	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	95					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						TCTTTTAGTTATTGGGCCAGT	0.393000			T	RET	papillary thyroid								3	37					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37367635	37367635	+	Missense_Mutation	SNP	A	A	G	rs146784733		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr3:37367635A>G	ENST00000361924.2	+	14	4632	c.4258A>G	c.(4258-4260)Aaa>Gaa	p.K1420E	GOLGA4_ENST00000356847.4_Missense_Mutation_p.K1442E|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1420	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTTATCTTTTAAAGTTGACAC	0.373000													3	97					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115141947	115141947	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:115141947A>T	ENST00000393274.1	-	16	2856	c.2231T>A	c.(2230-2232)aTt>aAt	p.I744N	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.I687N|DENND2C_ENST00000393277.1_Intron	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	744	DENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGGATTCCAATAAGGAATGG	0.458000													5	132					0	0	1	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27886994	27886994	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:27886994C>A	ENST00000326019.6	+	1	657	c.375C>A	c.(373-375)tgC>tgA	p.C125*		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	125						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AGCCGGACTGCGGTGATTTTA	0.627000													10	126					0.000442599	0.000471806	1	1	0
APH1B	83464	broad.mit.edu	37	15	63579621	63579621	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr15:63579621A>T	ENST00000261879.5	+	4	425		c.e4-1		APH1B_ENST00000380343.4_Intron	NM_001145646.1|NM_031301.3	NP_001139118.1|NP_112591.2	Q8WW43	APH1B_HUMAN	APH1B gamma secretase subunit						apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	integral to membrane|plasma membrane|transport vesicle	peptidase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	12						CTTCCTGTTTAGTTTCTGGCT	0.433000													10	435					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51853894	51853894	+	Splice_Site	SNP	T	T	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:51853894T>A	ENST00000453097.2	+	8	1230		c.e8+2		SLC4A8_ENST00000535225.2_Splice_Site|SLC4A8_ENST00000514353.3_Splice_Site|SLC4A8_ENST00000394856.1_Splice_Site|SLC4A8_ENST00000358657.3_Splice_Site	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8						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)		CCCAACAAGGTAAAGGCAAAG	0.383000													7	344					0	0	1	0	0
TOB2	10766	broad.mit.edu	37	22	41832382	41832382	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr22:41832382A>G	ENST00000327492.3	-	2	1674	c.968T>C	c.(967-969)cTc>cCc	p.L323P		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	323					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus		p.L323P(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GTTGTAGCTGAGGCCTTCCAC	0.602000													58	236					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48942661	48942661	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr13:48942661A>T	ENST00000267163.4	+	11	1187		c.e11-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATTGTTATTTAGTTTTGAAAC	0.318000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			4	104					0	0	1	0	0
ZBTB49	166793	broad.mit.edu	37	4	4304683	4304683	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr4:4304683G>T	ENST00000337872.4	+	3	1241	c.1120G>T	c.(1120-1122)Gag>Tag	p.E374*	ZBTB49_ENST00000355834.3_Nonsense_Mutation_p.E374*|ZBTB49_ENST00000538529.1_5'UTR	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						TAGTGAGACGGAGAGGCCTGA	0.458000													6	103					0.00198382	0.00212461	1	1	0
ERCC6L2	375748	broad.mit.edu	37	9	98678671	98678671	+	Silent	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr9:98678671C>A	ENST00000288985.7	+	6	1451	c.1146C>A	c.(1144-1146)cgC>cgA	p.R382R	ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Silent_p.R193R	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	382					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										TTCTCAGGCGCACCAAGACTC	0.428000													17	194					8.00594e-06	9.10264e-06	1	1	0
ZNF564	163050	broad.mit.edu	37	19	12637723	12637723	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr19:12637723C>T	ENST00000339282.7	-	4	1395	c.1199G>A	c.(1198-1200)aGa>aAa	p.R400K	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GTCAAAGGCTCTACCACATAC	0.433000													4	211					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70626490	70626490	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chrX:70626490C>T	ENST00000449580.1	+	26	4049	c.3998C>T	c.(3997-3999)gCg>gTg	p.A1333V	TAF1_ENST00000276072.3_Missense_Mutation_p.A1354V|TAF1_ENST00000423759.1_Missense_Mutation_p.A1354V|TAF1_ENST00000373790.4_Missense_Mutation_p.A1333V			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1333					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GATTTTAGTGCGGATGAGGTT	0.408000													3	63					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71380143	71380143	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr17:71380143G>T	ENST00000392650.3	-	33	4577	c.4577C>A	c.(4576-4578)gCa>gAa	p.A1526E	SDK2_ENST00000388726.3_Missense_Mutation_p.A1526E	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1526	Fibronectin type-III 10.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTTGTCCTCTGCTGGCGGCTG	0.617000													4	35					0.000602214	0.00064914	1	1	0
TRIM38	10475	broad.mit.edu	37	6	25983850	25983850	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr6:25983850A>G	ENST00000357085.3	+	8	1809	c.1333A>G	c.(1333-1335)Act>Gct	p.T445A	TRIM38_ENST00000349458.3_Missense_Mutation_p.T445A	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	445	B30.2/SPRY.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CTTCTCTGATACTCTCCGGCC	0.463000													6	138					0	0	1	0	0
SMU1	55234	broad.mit.edu	37	9	33057663	33057663	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr9:33057663A>G	ENST00000397149.3	-	7	850	c.800T>C	c.(799-801)gTc>gCc	p.V267A	SMU1_ENST00000536631.1_Missense_Mutation_p.V106A	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	267						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CATGCAGAGGACAGCATCATC	0.418000													3	139					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32151357	32151357	+	Silent	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr1:32151357C>T	ENST00000373672.3	-	29	2415	c.1899G>A	c.(1897-1899)gaG>gaA	p.E633E	COL16A1_ENST00000373668.3_Silent_p.E633E|COL16A1_ENST00000271069.6_Silent_p.E632E	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	633	Nonhelical region 7 (NC7).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CTGGGCACGGCTCACAGGGCT	0.627000													3	98					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974717	49974717	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr11:49974717C>T	ENST00000555099.1	+	1	775	c.743C>T	c.(742-744)tCc>tTc	p.S248F		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S248F(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GTCATCTTATCCTTTATACCC	0.433000													44	318					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179615716	179615716	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr2:179615716G>A	ENST00000360870.5	-	46	11633	c.11411C>T	c.(11410-11412)aCt>aTt	p.T3804I	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9641							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)			TCTTATTTCAGTCTGGAAAAT	0.348000													7	153					0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173525588	173525588	+	Silent	SNP	C	C	T	rs148161018		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr3:173525588C>T	ENST00000457714.1	+	4	1041	c.612C>T	c.(610-612)atC>atT	p.I204I	NLGN1_ENST00000545397.1_Silent_p.I204I|NLGN1_ENST00000361589.4_Silent_p.I204I|NLGN1_ENST00000401917.3_Silent_p.I244I	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	221					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.I204I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GCAATGTGATCGTCATCACAG	0.403000													18	60					0	0	1	0	0
MCM8	84515	broad.mit.edu	37	20	5958578	5958578	+	Silent	SNP	C	C	T	rs113442872	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr20:5958578C>T	ENST00000378896.3	+	13	1829	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	MCM8_ENST00000378883.1_Silent_p.T437T|MCM8_ENST00000378886.2_Silent_p.T524T|MCM8_ENST00000265187.4_Silent_p.T468T	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	484	MCM.|Thr-rich.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	p.T484T(1)|p.T468T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						CCACGACCACCTCTGGTCTGA	0.473000													5	182					0	0	1	0	0
ZBTB49	166793	broad.mit.edu	37	4	4322531	4322531	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr4:4322531C>A	ENST00000337872.4	+	8	1907	c.1786C>A	c.(1786-1788)Ctg>Atg	p.L596M	ZBTB49_ENST00000355834.3_Missense_Mutation_p.L474M|ZBTB49_ENST00000538529.1_Missense_Mutation_p.L79M	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L596M(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						CCCAGATGTGCTGGAGGAGCT	0.557000													14	50					7.07596e-05	7.83073e-05	1	1	0
KIAA0947	23379	broad.mit.edu	37	5	5462929	5462929	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr5:5462929T>G	ENST00000296564.7	+	13	3704	c.3482T>G	c.(3481-3483)aTa>aGa	p.I1161R		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1161								p.I1161R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GATTTTAACATAAGTACTTTT	0.428000													14	28					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123161078	123161078	+	Missense_Mutation	SNP	C	C	T	rs75959726		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr4:123161078C>T	ENST00000264501.4	+	29	4614	c.4241C>T	c.(4240-4242)cCg>cTg	p.P1414L	KIAA1109_ENST00000455637.1_Missense_Mutation_p.P1414L|KIAA1109_ENST00000388738.3_Missense_Mutation_p.P1414L|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	1414					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGAACTTATCCGGGTAGAAAA	0.453000													3	126					0	0	1	0	0
SYT5	6861	broad.mit.edu	37	19	55686318	55686318	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr19:55686318G>A	ENST00000354308.3	-	7	1127	c.758C>T	c.(757-759)gCc>gTc	p.A253V	SYT5_ENST00000537500.1_Missense_Mutation_p.A253V|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Missense_Mutation_p.A249V	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	253	C2 2.				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)		GAGCTTCCCGGCCGTGGGGAC	0.602000													4	144					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81209300	81209300	+	Silent	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr16:81209300A>G	ENST00000599697.1	-	15	2492	c.2493T>C	c.(2491-2493)ctT>ctC	p.L831L	PKD1L2_ENST00000527937.1_RNA|PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	831	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCTCCTCTCCAAGTGGCAGAT	0.552000													4	157					0	0	1	0	0
LY6G5C	80741	broad.mit.edu	37	6	31647002	31647002	+	Silent	SNP	T	T	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr6:31647002T>C	ENST00000375858.3	-	2	164	c.156A>G	c.(154-156)ccA>ccG	p.P52P	LY6G5C_ENST00000383237.4_Silent_p.P55P|LY6G5C_ENST00000375860.2_Silent_p.P53P|LY6G5C_ENST00000474395.1_5'UTR	NM_025262.3	NP_079538.3	Q5SRR4	LY65C_HUMAN	lymphocyte antigen 6 complex, locus G5C	55						extracellular region				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						ATTTGGGGAATGGAAGTGGTT	0.547000													6	387					0	0	1	0	0
TMEM74B	55321	broad.mit.edu	37	20	1164439	1164439	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr20:1164439G>C	ENST00000381894.3	-	1	678	c.7C>G	c.(7-9)Cca>Gca	p.P3A	TMEM74B_ENST00000481747.1_Intron	NM_018354.1	NP_060824.1	Q9NUR3	CT046_HUMAN	transmembrane protein 74B	3						integral to membrane	protein binding										CCCTGTGCTGGTGGCATCACT	0.488000													4	211					0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24579183	24579183	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr22:24579183G>A	ENST00000358321.3	+	2	496	c.235G>A	c.(235-237)Gtg>Atg	p.V79M		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	79					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	p.V79L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CAAGGACTTTGTGGTGCGGCA	0.637000													17	26					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82583288	82583288	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr7:82583288C>A	ENST00000423517.2	-	5	7318	c.6981G>T	c.(6979-6981)gaG>gaT	p.E2327D	PCLO_ENST00000333891.8_Missense_Mutation_p.E2327D	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2258	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.E2327D(2)|p.E2258D(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCGTTCGGCCTCCAACTCCT	0.413000													64	147					1.42676e-28	1.80796e-28	1	1	0
OR52B4	143496	broad.mit.edu	37	11	4388732	4388732	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr11:4388732C>T	ENST00000408920.2	-	1	884	c.794G>A	c.(793-795)aGg>aAg	p.R265K		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCGTCCAAACCTCTGGGTAAG	0.473000													5	231					0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7288076	7288076	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr12:7288076G>T	ENST00000537408.1	+	3	1111	c.573G>T	c.(571-573)caG>caT	p.Q191H	CLSTN3_ENST00000266546.6_Missense_Mutation_p.Q179H			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	179	Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.Q179>?(1)|p.Q179H(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						AGTACAGCCAGATCTGCTACT	0.582000													207	617					9.45852e-170	1.20778e-169	1	1	0
REM1	28954	broad.mit.edu	37	20	30064381	30064381	+	Missense_Mutation	SNP	C	C	T	rs59730832	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr20:30064381C>T	ENST00000201979.2	+	2	426	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	45			R -> W (in dbSNP:rs59730832).		small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCAGCATCCCCGGCTGGGCCA	0.652000													19	60					0	0	1	0	0
BPIFA2	140683	broad.mit.edu	37	20	31765995	31765995	+	Silent	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr20:31765995C>T	ENST00000253362.2	+	6	752	c.606C>T	c.(604-606)aaC>aaT	p.N202N	BPIFA2_ENST00000354932.5_Silent_p.N202N			Q96DR5	SPLC2_HUMAN	BPI fold containing family A, member 2	202						extracellular region	lipid binding										GCGTGATCAACACGCTGAAAA	0.522000													46	69					0	0	1	0	0
PLA1A	51365	broad.mit.edu	37	3	119327728	119327728	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr3:119327728C>A	ENST00000273371.4	+	3	459	c.387C>A	c.(385-387)taC>taA	p.Y129*	PLA1A_ENST00000495992.1_Nonsense_Mutation_p.Y129*|PLA1A_ENST00000494440.1_Nonsense_Mutation_p.Y113*|PLA1A_ENST00000488919.1_5'UTR	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	129					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGGAGTCTACTTCTCAGCTG	0.453000													11	217					1.08611e-07	1.29708e-07	1	1	0
CSMD1	64478	broad.mit.edu	37	8	3205592	3205592	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr8:3205592A>T	ENST00000520002.1	-	23	3954	c.3399T>A	c.(3397-3399)taT>taA	p.Y1133*	CSMD1_ENST00000542608.1_Nonsense_Mutation_p.Y1132*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.Y1133*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.Y1132*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.Y1132*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.Y1133*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.Y1133*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1133	CUB 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTTCTATTTTATAGATACACT	0.383000													4	44					0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118969176	118969176	+	Missense_Mutation	SNP	G	G	A	rs139101102		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr10:118969176G>A	ENST00000334549.1	+	3	521	c.521G>A	c.(520-522)cGc>cAc	p.R174H		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	174						integral to membrane|plasma membrane		p.R174H(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TTCTTTACCCGCCCCCTCCTC	0.507000													21	83					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53071532	53071532	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr8:53071532T>C	ENST00000276480.7	-	15	2415	c.1732A>G	c.(1732-1734)Atc>Gtc	p.I578V		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	578						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGGTTCAGGATGGCAGCAGCT	0.597000													24	123					0	0	1	0	0
UBL7	84993	broad.mit.edu	37	15	74741614	74741614	+	Silent	SNP	C	C	T	rs143556298	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr15:74741614C>T	ENST00000567435.1	-	9	1258	c.795G>A	c.(793-795)cgG>cgA	p.R265R	UBL7_ENST00000361351.4_Silent_p.R265R|UBL7_ENST00000564488.1_Silent_p.R265R|UBL7_ENST00000565335.1_Silent_p.R265R|UBL7_ENST00000395081.2_Silent_p.R265R			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)	265							protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GGGTGATGGGCCGGGGCCCAG	0.647000													17	59					0	0	1	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140794345	140794345	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr5:140794345C>A	ENST00000398610.2	+	1	1603	c.1603C>A	c.(1603-1605)Cag>Aag	p.Q535K	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACAGATGCAGGTGACAGC	0.542000													5	162					0.184627	0.186879	1	1	0
WDR62	284403	broad.mit.edu	37	19	36592993	36592993	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr19:36592993C>T	ENST00000401500.2	+	26	3195	c.3160C>T	c.(3160-3162)Ccg>Tcg	p.P1054S	WDR62_ENST00000270301.7_Missense_Mutation_p.P1054S	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	1054					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)			ACCCCAGACTCCGGAGCAGGA	0.652000													8	96					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29624081	29624081	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr20:29624081A>T	ENST00000278882.3	+	4	485	c.105A>T	c.(103-105)ttA>ttT	p.L35F	FRG1B_ENST00000358464.4_Missense_Mutation_p.L35F|FRG1B_ENST00000439954.2_Missense_Mutation_p.L40F														p.L35F(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CTGTCAAATTATCTGATTCCA	0.289000													3	15					0	0	1	0	0
PANX1	24145	broad.mit.edu	37	11	93912962	93912962	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr11:93912962G>A	ENST00000227638.3	+	4	1125	c.740G>A	c.(739-741)aGc>aAc	p.S247N	PANX1_ENST00000436171.2_Missense_Mutation_p.S247N	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	247					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTTGTGTGCAGCATCAAATCA	0.493000													4	261					0	0	1	0	0
CTNNA1	1495	broad.mit.edu	37	5	138266608	138266608	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr5:138266608G>A	ENST00000302763.7	+	16	2372	c.2282G>A	c.(2281-2283)cGc>cAc	p.R761H	CTNNA1_ENST00000518825.1_Missense_Mutation_p.R761H|CTNNA1_ENST00000355078.5_Missense_Mutation_p.R658H|CTNNA1_ENST00000540387.1_Missense_Mutation_p.R391H	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	761					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGCTTGGCCGCACCATTGCA	0.532000													4	129					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29624068	29624068	+	Missense_Mutation	SNP	T	T	C	rs151182578	by1000genomes	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr20:29624068T>C	ENST00000278882.3	+	4	472	c.92T>C	c.(91-93)aTg>aCg	p.M31T	FRG1B_ENST00000358464.4_Missense_Mutation_p.M31T|FRG1B_ENST00000439954.2_Missense_Mutation_p.M36T																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAGCAGTTTATGGCTGTCAAA	0.274000													4	18					0	0	1	0	0
KIF22	3835	broad.mit.edu	37	16	29810978	29810978	+	Silent	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr16:29810978C>T	ENST00000561482.1	+	7	1453	c.816C>T	c.(814-816)atC>atT	p.I272I	KIF22_ENST00000563263.1_3'UTR|KIF22_ENST00000400751.5_Silent_p.I272I|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000569382.2_Silent_p.I272I|KIF22_ENST00000160827.4_Silent_p.I340I	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	340	Kinesin-motor.				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						CCCACAGTATCCTTATTGCCA	0.557000													9	50					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122033517	122033517	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr7:122033517G>A	ENST00000334010.7	-	19	3281	c.2860C>T	c.(2860-2862)Cag>Tag	p.Q954*	CADPS2_ENST00000412584.2_Nonsense_Mutation_p.Q950*|CADPS2_ENST00000313070.7_Nonsense_Mutation_p.Q950*|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000449022.2_Nonsense_Mutation_p.Q956*|RP5-1101C3.1_ENST00000593910.1_RNA	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	956	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CATGTCTCCTGCTCAAAACCT	0.473000													5	249					0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40049295	40049295	+	Missense_Mutation	SNP	T	T	G	rs144101604		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr17:40049295T>G	ENST00000352035.2	-	15	1722	c.1592A>C	c.(1591-1593)tAc>tCc	p.Y531S	ACLY_ENST00000537919.1_Missense_Mutation_p.Y260S|ACLY_ENST00000353196.1_Missense_Mutation_p.Y521S|ACLY_ENST00000590151.1_Missense_Mutation_p.Y531S|ACLY_ENST00000393896.2_Missense_Mutation_p.Y521S	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	531					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	p.Y531S(1)	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)				CGTGAAAGGGTAGACCATGGC	0.577000													28	69					0	0	1	0	0
KCNRG	283518	broad.mit.edu	37	13	50594550	50594550	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr13:50594550A>G	ENST00000312942.1	+	2	1019	c.779A>G	c.(778-780)gAg>gGg	p.E260G	KCNRG_ENST00000360473.4_3'UTR|TRIM13_ENST00000478111.1_3'UTR	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	260						voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity	p.E260G(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		CCAAAACCAGAGACTATCATC	0.353000													22	98					0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67644821	67644821	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr16:67644821G>A	ENST00000264010.4	+	3	530	c.86G>A	c.(85-87)cGg>cAg	p.R29Q	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	29					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CAGAGACGCCGGGAAGGGGGC	0.522000													3	80					0	0	1	0	0
USP44	84101	broad.mit.edu	37	12	95927476	95927476	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr12:95927476A>T	ENST00000258499.3	-	2	845	c.557T>A	c.(556-558)gTa>gAa	p.V186E	USP44_ENST00000552440.1_Missense_Mutation_p.V186E|USP44_ENST00000537435.2_Missense_Mutation_p.V186E|USP44_ENST00000393091.2_Missense_Mutation_p.V186E	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	186					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						TTCTCTTTTTACTACTATTTT	0.363000													4	102					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30033987	30033987	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr11:30033987C>T	ENST00000328224.6	-	2	1472	c.239G>A	c.(238-240)cGg>cAg	p.R80Q		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	80						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CCGACTACCCCGGCTGCTCTG	0.642000													3	113					0	0	1	0	0
PRCC	5546	broad.mit.edu	37	1	156767110	156767110	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr1:156767110C>A	ENST00000271526.4	+	6	1638	c.1366C>A	c.(1366-1368)Cag>Aag	p.Q456K	PRCC_ENST00000353233.3_Missense_Mutation_p.Q424K	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	456					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	p.Q456K(1)	PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCGGAAACACCAGATCACATA	0.463000			T	TFE3	papillary renal						OREG0013886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	166					0.00010058	0.000110571	1	1	0
STIP1	10963	broad.mit.edu	37	11	63971042	63971042	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr11:63971042G>A	ENST00000358794.5	+	13	2201	c.1648G>A	c.(1648-1650)Gcc>Acc	p.A550T	STIP1_ENST00000305218.4_Missense_Mutation_p.A503T|STIP1_ENST00000538945.1_Missense_Mutation_p.A479T			P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	503					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						GAGTGACCCAGCCATGCGCCT	0.587000													5	257					0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116730108	116730108	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr11:116730108C>T	ENST00000375300.1	-	19	2499	c.2494G>A	c.(2494-2496)Ggc>Agc	p.G832S	SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000446921.2_Missense_Mutation_p.G832S|SIK3_ENST00000292055.4_Missense_Mutation_p.G774S|SIK3_ENST00000434315.2_Missense_Mutation_p.G673S|SIK3_ENST00000375288.1_Missense_Mutation_p.G169S|SIK3_ENST00000542607.1_Missense_Mutation_p.G774S			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	774	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						ATGGAGATGCCGCGCCCACTG	0.607000											OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	3	104					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3641179	3641179	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr16:3641179C>A	ENST00000294008.3	-	12	3100	c.2460G>T	c.(2458-2460)agG>agT	p.R820S		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	820	Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	p.R820S(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCCACATTGACCTCAAGAGTT	0.478000								Direct reversal of damage					46	123					1.15181e-12	1.40588e-12	1	1	0
LHFPL5	222662	broad.mit.edu	37	6	35773519	35773519	+	Silent	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr6:35773519C>A	ENST00000360215.1	+	1	449	c.72C>A	c.(70-72)gcC>gcA	p.A24A	LHFPL5_ENST00000373853.1_Silent_p.A24A	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	24						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						ACTCGCGAGCCGTGGGCGTGA	0.617000													3	72					1	1	1	1	0
MADD	8567	broad.mit.edu	37	11	47298402	47298402	+	Silent	SNP	A	A	G	rs34602269	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr11:47298402A>G	ENST00000342922.4	+	5	1440	c.1083A>G	c.(1081-1083)gcA>gcG	p.A361A	MADD_ENST00000489415.1_3'UTR|MADD_ENST00000407859.3_Silent_p.A361A|MADD_ENST00000406482.1_Silent_p.A361A|MADD_ENST00000402799.1_Silent_p.A361A|MADD_ENST00000402192.2_Silent_p.A361A|MADD_ENST00000395336.3_Silent_p.A361A|MADD_ENST00000395344.3_Silent_p.A361A|MADD_ENST00000349238.3_Silent_p.A361A|MADD_ENST00000311027.5_Silent_p.A361A	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	361	DENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCTGCATGGCATCAGCAGAGC	0.512000													6	91					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209104723	209104723	+	Nonsense_Mutation	SNP	A	A	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr2:209104723A>C	ENST00000415913.1	-	8	1236	c.855T>G	c.(853-855)taT>taG	p.Y285*	IDH1_ENST00000345146.2_Nonsense_Mutation_p.Y285*|IDH1_ENST00000446179.1_Nonsense_Mutation_p.Y285*			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	285					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.Y285*(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		CGAGAGAGCCATACCCTGTAA	0.517000			Mis		gliobastoma								33	100					0	0	1	0	0
C4BPB	725	broad.mit.edu	37	1	207263815	207263815	+	Missense_Mutation	SNP	C	C	T	rs146047392		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr1:207263815C>T	ENST00000243611.5	+	2	515	c.221C>T	c.(220-222)aCt>aTt	p.T74I	C4BPB_ENST00000367078.3_Missense_Mutation_p.T74I|C4BPB_ENST00000391923.1_Missense_Mutation_p.T74I|C4BPB_ENST00000367076.3_Missense_Mutation_p.T73I|C4BPB_ENST00000451804.2_Missense_Mutation_p.T64I	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	74	Sushi 1.				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						AACACCACTACTGAGTGCCGC	0.433000													6	100					0	0	1	0	0
AOC2	314	broad.mit.edu	37	17	40997811	40997811	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr17:40997811C>T	ENST00000253799.3	+	1	1195	c.1168C>T	c.(1168-1170)Cga>Tga	p.R390*	AOC2_ENST00000452774.2_Nonsense_Mutation_p.R390*	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	390					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CCGTAACAGCCGAGGCTTGGT	0.552000													3	117					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21938988	21938988	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr7:21938988G>T	ENST00000328843.6	+	81	13136	c.13105G>T	c.(13105-13107)Gat>Tat	p.D4369Y	DNAH11_ENST00000409508.3_Missense_Mutation_p.D4362Y			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4369					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCGAGAACTCGATACTTGGAC	0.502000									Kartagener syndrome				9	292					5.16669e-11	6.26036e-11	1	1	0
GRIN2B	2904	broad.mit.edu	37	12	13769424	13769424	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr12:13769424C>A	ENST00000279593.3	-	5	1502	c.1293G>T	c.(1291-1293)agG>agT	p.R431S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	431					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R431S(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGACTGTGTTCCTCATGCAGG	0.517000													37	283					1.59361e-14	1.98902e-14	1	1	0
SETD2	29072	broad.mit.edu	37	3	47098361	47098361	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr3:47098361C>A	ENST00000409792.3	-	15	6955	c.6913G>T	c.(6913-6915)Gtc>Ttc	p.V2305F		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2305	Gln-rich.|Low charge region.				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)		ACACCATAGACTGTTGGACAT	0.413000			"""N, F, S, Mis"""		clear cell renal carcinoma								3	129					0.00909568	0.00955622	1	1	0
ZNF451	26036	broad.mit.edu	37	6	57025930	57025930	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr6:57025930A>G	ENST00000370706.4	+	14	3363	c.3119A>G	c.(3118-3120)gAa>gGa	p.E1040G	RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.E992G|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	1040					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TCAATAGGAGAAGAATTTATA	0.313000													34	70					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114279032	114279032	+	Silent	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr4:114279032G>A	ENST00000357077.4	+	38	9311	c.9258G>A	c.(9256-9258)agG>agA	p.R3086R	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.R3053R|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3053					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.R3086R(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)		CTCCTGCTAGGACCCCAACTG	0.463000													8	190					0	0	1	0	0
ZNF836	162962	broad.mit.edu	37	19	52658790	52658790	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr19:52658790G>C	ENST00000322146.8	-	5	2667	c.2146C>G	c.(2146-2148)Cct>Gct	p.P716A	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.P716A	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	716					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P716A(2)|p.P716S(1)		endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCCCCAGTAGGATTTCTGTGA	0.398000													33	45					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626754	108626754	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr2:108626754G>T	ENST00000264047.2	+	9	1456	c.1180G>T	c.(1180-1182)Gcc>Tcc	p.A394S	SLC5A7_ENST00000409059.1_Missense_Mutation_p.A394S|SLC5A7_ENST00000540517.1_Missense_Mutation_p.A289S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	394					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ATCTGCAACAGCCATGGCCTT	0.458000													20	190					8.34094e-07	9.75067e-07	1	1	0
WIZ	58525	broad.mit.edu	37	19	15537959	15537959	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr19:15537959C>A	ENST00000389282.4	-	6	3699	c.3486G>T	c.(3484-3486)aaG>aaT	p.K1162N	WIZ_ENST00000545156.1_Missense_Mutation_p.K476N|WIZ_ENST00000263381.6_Missense_Mutation_p.K305N|WIZ_ENST00000599910.1_Missense_Mutation_p.K479N|WIZ_ENST00000599686.2_Missense_Mutation_p.K346N			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1162	Pro-rich.					nucleus	zinc ion binding	p.K476N(1)|p.K305N(1)|p.K1162N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CTGGGAACATCTTTCGGGCCG	0.622000													3	27					0.115264	0.11811	1	1	0
OR8B4	283162	broad.mit.edu	37	11	124294708	124294708	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr11:124294708C>G	ENST00000356130.3	-	1	81	c.60G>C	c.(58-60)caG>caC	p.Q20H		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	20					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)		GGAGCTCTGGCTGTTCTGATA	0.473000													10	218					0	0	1	0	0
PROKR1	10887	broad.mit.edu	37	2	68882419	68882419	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr2:68882419C>T	ENST00000303786.3	+	3	1313	c.893C>T	c.(892-894)gCg>gTg	p.A298V	PROKR1_ENST00000394342.2_Missense_Mutation_p.A298V			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	298						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.A298V(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTATGCTGGGCGCCCTTCTAC	0.597000													49	197					0	0	1	0	0
LPCAT3	10162	broad.mit.edu	37	12	7087581	7087581	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr12:7087581A>G	ENST00000261407.4	-	9	1047	c.962T>C	c.(961-963)gTg>gCg	p.V321A	LPCAT3_ENST00000535021.1_Splice_Site|U47924.19_ENST00000564245.1_RNA	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	321					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity	p.V321A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AAAGAGCCACACCTTCATGTT	0.547000													63	174					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349878	100349878	+	RNA	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr7:100349878C>T	ENST00000542585.1	+	0	2298				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_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		p.P717L(2)		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)			CCAGAAAAACCCACCATCCCC	0.507000													2	6					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73063082	73063082	+	RNA	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chrX:73063082C>T	ENST00000429829.1	-	0	9506					NR_001564.2																						CAGAAGGAGACATATATAATT	0.448000													14	47					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4924902	4924902	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chrY:4924902C>T	ENST00000362095.5	+	1	772	c.38C>T	c.(37-39)tCt>tTt	p.S13F	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.S13F|PCDH11Y_ENST00000333703.4_Intron	NM_032972.2	NP_116754.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	13					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCTTCTTCCTCTTCTCTCTCT	0.373000													4	40					0	0	1	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73491164	73491164	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr14:73491164C>A	ENST00000556143.1	-	2	773	c.53G>T	c.(52-54)tGc>tTc	p.C18F	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.C18F|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.C18F	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	18						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		ACTTTCCTGGCACATCAGCCC	0.547000													3	61					0.115264	0.11811	1	1	0
DNAJA2	10294	broad.mit.edu	37	16	47005387	47005387	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr16:47005387C>T	ENST00000317089.5	-	3	451	c.236G>A	c.(235-237)gGc>gAc	p.G79D		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	79					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				ACCACCTCCGCCGCTGCCTTC	0.438000													5	296					0	0	1	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145474664	145474664	+	Silent	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr1:145474664C>A	ENST00000323397.4	+	4	2629	c.1336C>A	c.(1336-1338)Cgg>Agg	p.R446R		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	446	Pro-rich.									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)					ACCCGGAGGTCGGGCGCCTTC	0.642000													8	44					1.76689e-08	2.12539e-08	1	1	0
PLXNA4	91584	broad.mit.edu	37	7	131883287	131883287	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr7:131883287C>T	ENST00000359827.3	-	13	3657	c.2695G>A	c.(2695-2697)Gtg>Atg	p.V899M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.V899M			Q9HCM2	PLXA4_HUMAN	plexin A4	899	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTGCACTCCACGCCAGCAACC	0.577000													3	103					0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43498583	43498583	+	Silent	SNP	G	G	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr15:43498583G>C	ENST00000300215.3	-	10	2110	c.1653C>G	c.(1651-1653)gtC>gtG	p.V551V	EPB42_ENST00000441366.2_Silent_p.V521V|EPB42_ENST00000563128.1_5'UTR|EPB42_ENST00000540029.1_Silent_p.V443V			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	521					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TGGCAGCAAGGACACCGTTGT	0.582000													14	155					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17264804	17264804	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr19:17264804A>T	ENST00000595618.1	+	5	1178	c.1026A>T	c.(1024-1026)ttA>ttT	p.L342F	MYO9B_ENST00000594824.1_Missense_Mutation_p.L342F|MYO9B_ENST00000397274.2_Missense_Mutation_p.L342F|CTD-3032J10.2_ENST00000599360.1_RNA|CTD-3032J10.2_ENST00000597216.1_RNA	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	342	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ATTATTTGTTACTTGGGGTCA	0.438000													5	139					0	0	1	0	0
FOXRED2	80020	broad.mit.edu	37	22	36901978	36901978	+	Silent	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr22:36901978G>T	ENST00000397224.4	-	2	585	c.492C>A	c.(490-492)atC>atA	p.I164I	FOXRED2_ENST00000397223.4_Silent_p.I164I|FOXRED2_ENST00000216187.6_Silent_p.I164I	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	164					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGTCAGTTAGGATGAAGTAGT	0.607000													5	252					1.23904e-05	1.38041e-05	1	1	0
AMBP	259	broad.mit.edu	37	9	116823210	116823210	+	Missense_Mutation	SNP	C	C	G	rs150141433		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr9:116823210C>G	ENST00000265132.3	-	9	1284	c.1022G>C	c.(1021-1023)gGt>gCt	p.G341A		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	341					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CCTACCATCACCAGGGACACC	0.632000													3	146					0	0	1	0	0
LYSMD1	388695	broad.mit.edu	37	1	151134308	151134308	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr1:151134308T>A	ENST00000368908.5	-	2	1109	c.449A>T	c.(448-450)cAt>cTt	p.H150L	LYSMD1_ENST00000440902.2_Missense_Mutation_p.H102L	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1	150					cell wall macromolecule catabolic process					endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	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)			AGAGAGGTCATGGATGGGCGT	0.527000													8	448					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11308051	11308051	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr1:11308051G>T	ENST00000361445.4	-	7	1017	c.941C>A	c.(940-942)aCc>aAc	p.T314N		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	314					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GGTGAAGGGGGTAATGTGACG	0.532000													11	175					1.58986e-06	1.84558e-06	1	1	0
FLOT1	10211	broad.mit.edu	37	6	30708318	30708318	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr6:30708318A>C	ENST00000376389.3	-	7	745	c.525T>G	c.(523-525)gaT>gaG	p.D175E	FLOT1_ENST00000456573.2_Missense_Mutation_p.D127E|FLOT1_ENST00000470643.1_5'UTR	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN	flotillin 1	175						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						CAATCCGTGCATCTTTTTGGA	0.507000													3	65					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37271845	37271845	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr1:37271845C>A	ENST00000373091.3	-	14	2190	c.2174G>T	c.(2173-2175)gGc>gTc	p.G725V	GRIK3_ENST00000373093.4_Missense_Mutation_p.G725V	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	725					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CCTCTGGATGCCCTCCTCGTT	0.607000													15	132					8.00594e-06	9.10264e-06	1	1	0
C2CD3	26005	broad.mit.edu	37	11	73850649	73850649	+	Splice_Site	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr11:73850649C>T	ENST00000334126.7	-	4	934		c.e4+1		C2CD3_ENST00000313663.7_Splice_Site|C2CD3_ENST00000539061.1_Splice_Site			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3							centrosome		p.?(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ATGGTAATTACCTCGGAGTGG	0.408000													142	621					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20552448	20552448	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr4:20552448A>T	ENST00000504154.1	+	25	2741		c.e25-1		SLIT2_ENST00000273739.5_Splice_Site|SLIT2_ENST00000509394.2_Splice_Site|SLIT2_ENST00000503837.1_Splice_Site|SLIT2_ENST00000503823.1_Splice_Site	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)						apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCTTTCTTTTAGTTCTCTACA	0.313000													4	89					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58120374	58120374	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr3:58120374G>T	ENST00000357272.4	+	27	4711	c.4546G>T	c.(4546-4548)Gat>Tat	p.D1516Y	FLNB_ENST00000358537.3_Missense_Mutation_p.D1516Y|FLNB_ENST00000348383.5_Missense_Mutation_p.D1516Y|FLNB_ENST00000295956.4_Missense_Mutation_p.D1516Y|FLNB_ENST00000493452.1_Missense_Mutation_p.D1347Y|FLNB_ENST00000490882.1_Missense_Mutation_p.D1547Y|FLNB_ENST00000429972.2_Missense_Mutation_p.D1516Y|FLNB_ENST00000419752.2_Missense_Mutation_p.D1347Y			O75369	FLNB_HUMAN	filamin B, beta	1516					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)		TCCCACATATGATGCCAGCAA	0.512000													5	244					1.23904e-05	1.38041e-05	1	1	0
PRPF3	9129	broad.mit.edu	37	1	150312902	150312902	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr1:150312902T>C	ENST00000324862.6	+	9	1396	c.1231T>C	c.(1231-1233)Tat>Cat	p.Y411H	PRPF3_ENST00000543398.1_Missense_Mutation_p.L274S|PRPF3_ENST00000414970.2_Missense_Mutation_p.Y362H|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	411					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GAGAGAAGATTATTTTGGAAT	0.388000													5	44					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957371	35957371	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr5:35957371G>T	ENST00000274278.3	-	5	1351	c.994C>A	c.(994-996)Cag>Aag	p.Q332K	UGT3A1_ENST00000507113.1_Missense_Mutation_p.Q298K|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Missense_Mutation_p.Q332K	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	332						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAGAACTCTGACATGTCCAT	0.502000													4	143					0.150653	0.153426	1	1	0
LOC101927905	101927905	broad.mit.edu	37	12	8388326	8388326	+	RNA	SNP	G	G	C	rs113732517		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr12:8388326G>C	ENST00000304751.9	+	0	316				FAM86FP_ENST00000427893.2_RNA																							CGAGCCTCCCGAGGGCTGCAC	0.577000													3	59					0	0	1	0	0
DQX1	165545	broad.mit.edu	37	2	74745642	74745642	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr2:74745642C>T	ENST00000404568.3	-	12	2304	c.2085G>A	c.(2083-2085)atG>atA	p.M695I	DQX1_ENST00000393951.2_Missense_Mutation_p.M695I	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	695						nucleus	ATP binding|helicase activity|nucleic acid binding	p.M577I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TAGAATCTGCCATTCCTTCCC	0.532000													44	60					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50893343	50893343	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr22:50893343C>T	ENST00000380817.2	-	35	4895	c.4712G>A	c.(4711-4713)aGg>aAg	p.R1571K	SBF1_ENST00000348911.6_Missense_Mutation_p.R1546K|SBF1_ENST00000390679.3_Missense_Mutation_p.R1545K	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1545	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	p.R1571K(1)|p.R1545K(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CACCTGGCCCCTGCGTTCCCC	0.637000													8	23					0	0	1	0	0
SPAG9	9043	broad.mit.edu	37	17	49098649	49098649	+	Silent	SNP	T	T	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr17:49098649T>C	ENST00000262013.7	-	7	1069	c.861A>G	c.(859-861)acA>acG	p.T287T	SPAG9_ENST00000510283.1_Silent_p.T130T|SPAG9_ENST00000505279.1_Silent_p.T273T|SPAG9_ENST00000357122.4_Silent_p.T273T	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	287					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		p.T273T(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CAGTAGGAATTGTTGCCACAT	0.378000													58	191					0	0	1	0	0
ZNF395	55893	broad.mit.edu	37	8	28209093	28209093	+	Silent	SNP	C	C	T	rs145491469	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr8:28209093C>T	ENST00000344423.5	-	7	1283	c.1152G>A	c.(1150-1152)ccG>ccA	p.P384P	ZNF395_ENST00000523202.1_Silent_p.P384P|ZNF395_ENST00000523095.1_Silent_p.P384P	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	384					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGGAGGACTCCGGGCCAGGAT	0.642000													5	85					0	0	1	0	0
NCKAP1	10787	broad.mit.edu	37	2	183817923	183817923	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr2:183817923C>G	ENST00000360982.2	-	22	3066	c.2308G>C	c.(2308-2310)Gta>Cta	p.V770L	NCKAP1_ENST00000361354.3_Missense_Mutation_p.V764L	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	764					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTATTAAATACTCTTGTAATA	0.348000													4	112					0	0	1	0	0
CYP46A1	10858	broad.mit.edu	37	14	100166435	100166435	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr14:100166435G>A	ENST00000261835.3	+	5	544	c.440G>A	c.(439-441)cGg>cAg	p.R147Q	CYP46A1_ENST00000423126.2_Missense_Mutation_p.R50Q	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	147					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GCCTTCAGCCGGAGGTGAGTG	0.622000													3	84					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56571836	56571836	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr12:56571836T>A	ENST00000394023.3	-	15	1457	c.1352A>T	c.(1351-1353)aAc>aTc	p.N451I	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.N451I|SMARCC2_ENST00000347471.4_Missense_Mutation_p.N451I|SMARCC2_ENST00000550164.1_Missense_Mutation_p.N451I	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	451	SWIRM.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GTTCTTGCCGTTGAAGAACTC	0.507000													3	57					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	63					0	0	1	0	0
FUT6	2528	broad.mit.edu	37	19	5831521	5831521	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr19:5831521C>T	ENST00000318336.4	-	3	2252	c.1058G>A	c.(1057-1059)gGc>gAc	p.G353D	FUT6_ENST00000527106.1_Missense_Mutation_p.G353D|FUT6_ENST00000524754.1_Missense_Mutation_p.G353D|FUT6_ENST00000286955.5_Missense_Mutation_p.G353D|FUT6_ENST00000592563.1_Intron	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	353					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						AGCCGCTATGCCGCGTGTCTG	0.632000													3	57					0	0	1	0	0
C16orf87	388272	broad.mit.edu	37	16	46865045	46865045	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr16:46865045G>A	ENST00000394806.2	-	1	29	c.17C>T	c.(16-18)gCc>gTc	p.A6V	C16orf87_ENST00000285697.4_Missense_Mutation_p.A6V			Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	6										large_intestine(4)|urinary_tract(1)	5						CACTTTCTTGGCTCGAGTTGC	0.711000													3	35					0	0	1	0	0
HOXD11	3237	broad.mit.edu	37	2	176973786	176973786	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr2:176973786A>C	ENST00000249504.5	+	2	1003	c.933A>C	c.(931-933)aaA>aaC	p.K311N	HOXD11_ENST00000498438.1_3'UTR|HOXD10_ENST00000490088.2_3'UTR	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	homeobox D11	311						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		GGCAAGTCAAAATCTGGTTCC	0.453000			T	NUP98	AML								5	320					0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117097933	117097933	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr11:117097933C>T	ENST00000320934.3	-	5	1339	c.709G>A	c.(709-711)Gcg>Acg	p.A237T		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	237	Catalytic.				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)		GGCACAGCCGCGATCTCTCCT	0.607000			T	IGH@	MLCLS								7	462					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	103903622	103903622	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chrX:103903622G>T	ENST00000372582.1	+	2	784	c.28G>T	c.(28-30)Gtg>Ttg	p.V10L	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.V10L	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	10					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTTGGCCCTTGTGGTCTGTTC	0.398000													4	155					0.00909568	0.00955622	1	1	0
UBE4A	9354	broad.mit.edu	37	11	118245844	118245844	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr11:118245844C>A	ENST00000252108.3	+	9	1481	c.1350C>A	c.(1348-1350)tgC>tgA	p.C450*	UBE4A_ENST00000431736.2_Nonsense_Mutation_p.C457*	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	450					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AGCCATTTTGCAAACCCAGAT	0.443000													12	103					9.31168e-06	1.05152e-05	1	1	0
TAS2R3	50831	broad.mit.edu	37	7	141464695	141464695	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr7:141464695A>T	ENST00000247879.2	+	1	799	c.737A>T	c.(736-738)tAc>tTc	p.Y246F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	246					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ttcttactttactttcttgct	0.418000													6	109					0	0	1	0	0
CLTB	1212	broad.mit.edu	37	5	175824632	175824632	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr5:175824632A>T	ENST00000310418.4	-	4	645	c.440T>A	c.(439-441)gTa>gAa	p.V147E	CLTB_ENST00000345807.2_Missense_Mutation_p.V147E	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	147	Involved in binding clathrin heavy chain.				intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		GTTCTTCTCTACTTGTTCACT	0.592000													4	117					0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102295	22102295	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr14:22102295G>C	ENST00000542433.1	-	1	801	c.704C>G	c.(703-705)aCc>aGc	p.T235S		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T235S(1)		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)		CCCATCAGCGGTGCGTATCTT	0.542000													20	44					0	0	1	0	0
WDPCP	51057	broad.mit.edu	37	2	63719992	63719992	+	Missense_Mutation	SNP	G	G	A	rs149347732	by1000genomes	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr2:63719992G>A	ENST00000409562.3	-	2	404	c.158C>T	c.(157-159)gCg>gTg	p.A53V	WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000272321.7_Missense_Mutation_p.A53V			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	53					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TCATTTACCCGCAATGTGTAA	0.358000													5	193					0	0	1	0	0
TXNDC15	79770	broad.mit.edu	37	5	134235291	134235291	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr5:134235291A>T	ENST00000358387.4	+	5	1624	c.999A>T	c.(997-999)ttA>ttT	p.L333F	TXNDC15_ENST00000546290.1_Missense_Mutation_p.L310F	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	333					cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TATTCTTTTTAATTAGTTTTA	0.403000													4	121					0	0	1	0	0
ZAK	51776	broad.mit.edu	37	2	174055621	174055621	+	Splice_Site	SNP	A	A	T	rs67587107		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr2:174055621A>T	ENST00000338983.3	+	6	610		c.e6-1		MLTK_ENST00000409176.2_Splice_Site|MLTK_ENST00000375213.3_Splice_Site|MLK7-AS1_ENST00000419609.1_RNA|MLTK_ENST00000539448.1_Splice_Site|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000431503.2_Splice_Site|MLTK_ENST00000480606.1_Splice_Site	NM_133646.2	NP_598407.1																					TTCTTTTTTTAGTTGTTATAG	0.279000													4	69					0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58558027	58558027	+	Missense_Mutation	SNP	C	C	G	rs149485584		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr20:58558027C>G	ENST00000348616.4	+	5	743	c.443C>G	c.(442-444)tCc>tGc	p.S148C	CDH26_ENST00000244047.5_Missense_Mutation_p.S148C	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	148	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S148C(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GTGGATACATCCTTGATTTTC	0.403000													4	164					0	0	1	0	0
KGFLP2	654466	broad.mit.edu	37	9	41962602	41962602	+	RNA	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr9:41962602G>T	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373000													7	30					0.0477658	0.049557	1	1	0
RMND5B	64777	broad.mit.edu	37	5	177574737	177574737	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr5:177574737T>C	ENST00000515098.1	+	11	1322	c.971T>C	c.(970-972)aTt>aCt	p.I324T	RMND5B_ENST00000313386.4_Missense_Mutation_p.I324T|RMND5B_ENST00000542098.1_Missense_Mutation_p.I311T			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	324										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGATTGAGATTGAACTAGGC	0.582000													5	185					0	0	1	0	0
DNPEP	23549	broad.mit.edu	37	2	220239650	220239650	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr2:220239650G>C	ENST00000273075.4	-	14	1554	c.1334C>G	c.(1333-1335)cCc>cGc	p.P445R	DNPEP_ENST00000373972.1_Missense_Mutation_p.P370R|DNPEP_ENST00000523282.1_Missense_Mutation_p.P453R|DNPEP_ENST00000490371.1_5'UTR	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	435					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	GGCCAGTTGGGGGCTGCCTAA	0.607000													8	116					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24488133	24488133	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr5:24488133G>T	ENST00000264463.4	-	12	2513	c.2006C>A	c.(2005-2007)gCc>gAc	p.A669D	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	669					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GATATCAAAGGCCTGGGTGTC	0.463000										HNSCC(23;0.051)			17	114					3.99206e-14	4.90875e-14	1	1	0
MIR519B	574469	broad.mit.edu	37	19	54198466	54198466	+	RNA	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr19:54198466C>T	ENST00000385090.1	+	0	0					NR_030191.1																						CAAGAAGATCCCATGCTGTGA	0.403000													9	275					0	0	1	0	0
EHHADH	1962	broad.mit.edu	37	3	184966307	184966307	+	Splice_Site	SNP	T	T	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr3:184966307T>A	ENST00000231887.3	-	2	150		c.e2-2		EHHADH_ENST00000475987.1_Splice_Site|EHHADH_ENST00000456310.1_Splice_Site|EHHADH_ENST00000440662.1_Splice_Site	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase							peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	AAAGTCGTACTAAAAGAAAAC	0.323000													7	283					0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2064624	2064624	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr12:2064624G>A	ENST00000280665.6	-	6	704	c.625C>T	c.(625-627)Caa>Taa	p.Q209*	DCP1B_ENST00000541700.1_Intron|DCP1B_ENST00000540622.1_Nonsense_Mutation_p.Q83*|DCP1B_ENST00000397173.4_Nonsense_Mutation_p.Q107*	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	209					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			ATACGCTGTTGCTGGTTTTCA	0.413000													66	416					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	by1000genomes	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr13:25161397C>G	ENST00000453498.1	+	0	921																											TGAAACATCTCTACAACTGGA	0.343000													3	123					0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6260632	6260632	+	Silent	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr11:6260632G>T	ENST00000379936.2	+	2	196	c.81G>T	c.(79-81)ctG>ctT	p.L27L	CNGA4_ENST00000533426.1_5'UTR	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	27					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)		TGCCTGTCCTGGACCCATCTG	0.488000													9	603					7.48243e-07	8.8091e-07	1	1	0
SRPR	6734	broad.mit.edu	37	11	126137176	126137176	+	Silent	SNP	T	T	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr11:126137176T>C	ENST00000332118.6	-	4	574	c.420A>G	c.(418-420)gaA>gaG	p.E140E	SRPR_ENST00000532259.1_Silent_p.E112E	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	140					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TTTCAGAATCTTCAAATTTCT	0.443000													4	204					0	0	1	0	0
BCCIP	56647	broad.mit.edu	37	10	127522413	127522413	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr10:127522413G>T	ENST00000299130.3	+	6	684	c.672G>T	c.(670-672)aaG>aaT	p.K224N	BCCIP_ENST00000368759.5_Missense_Mutation_p.K224N|BCCIP_ENST00000429863.2_Missense_Mutation_p.K194N|BCCIP_ENST00000278100.6_Missense_Mutation_p.K224N	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	224	Interaction with CDKN1A.				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGATTAGTAAGACATTTGTGG	0.398000													10	146					3.07112e-06	3.54032e-06	1	1	0
MYO1D	4642	broad.mit.edu	37	17	30981510	30981510	+	Silent	SNP	G	G	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr17:30981510G>C	ENST00000318217.5	-	18	2779	c.2475C>G	c.(2473-2475)ggC>ggG	p.G825G	RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000579584.1_Silent_p.G825G|MYO1D_ENST00000394649.4_Silent_p.G737G	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	825						myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CAAGATAGTTGCCCTCCCAGG	0.493000													3	155					0	0	1	0	0
FCN1	2219	broad.mit.edu	37	9	137808248	137808248	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr9:137808248C>A	ENST00000371806.3	-	2	254	c.163G>T	c.(163-165)Ggg>Tgg	p.G55W		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	55	Collagen-like.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CCGGGCAGCCCCGGGCAGCCT	0.677000													6	172					0.0477658	0.049557	1	1	0
C11orf30	56946	broad.mit.edu	37	11	76227234	76227234	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr11:76227234G>A	ENST00000529032.1	+	10	1562	c.1562G>A	c.(1561-1563)cGg>cAg	p.R521Q	C11orf30_ENST00000525038.1_Missense_Mutation_p.R536Q|C11orf30_ENST00000343878.3_Missense_Mutation_p.R521Q|C11orf30_ENST00000525919.1_Missense_Mutation_p.R522Q|C11orf30_ENST00000524490.1_Missense_Mutation_p.R437Q|C11orf30_ENST00000533248.1_Missense_Mutation_p.R535Q|C11orf30_ENST00000524767.1_Missense_Mutation_p.R536Q|C11orf30_ENST00000334736.3_Missense_Mutation_p.R521Q			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	521	Thr-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TCCATTGGTCGGATGGCTGCA	0.468000													3	95					0	0	1	0	0
CTSB	1508	broad.mit.edu	37	8	11703250	11703250	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr8:11703250C>T	ENST00000353047.6	-	9	1095	c.842G>A	c.(841-843)cGc>cAc	p.R281H	CTSB_ENST00000530640.2_Missense_Mutation_p.R281H|CTSB_ENST00000533455.1_Missense_Mutation_p.R281H|CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000531089.1_Missense_Mutation_p.R281H|CTSB_ENST00000434271.1_Missense_Mutation_p.R281H|CTSB_ENST00000453527.2_Missense_Mutation_p.R281H|CTSB_ENST00000345125.3_Missense_Mutation_p.R281H|CTSB_ENST00000534510.1_Missense_Mutation_p.R281H	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	281					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity	p.R281H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		GCCCAGGATGCGGATGGCATG	0.612000													20	65					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580570	7580570	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr6:7580570C>A	ENST00000379802.3	+	23	4488	c.4147C>A	c.(4147-4149)Cag>Aag	p.Q1383K	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1383	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCTCACCATGCAGAAGGAAGA	0.433000													11	147					0.000151284	0.000165219	1	1	0
CLSTN3	9746	broad.mit.edu	37	12	7288077	7288077	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr12:7288077A>G	ENST00000537408.1	+	3	1112	c.574A>G	c.(574-576)Atc>Gtc	p.I192V	CLSTN3_ENST00000266546.6_Missense_Mutation_p.I180V			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	180	Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.Q179>?(1)|p.I180V(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GTACAGCCAGATCTGCTACTA	0.582000													211	615					0	0	1	0	0
MRPL45	84311	broad.mit.edu	37	17	36453208	36453208	+	Missense_Mutation	SNP	T	T	C	rs149988943	by1000genomes	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr17:36453208T>C	ENST00000312513.5	+	1	220	c.59T>C	c.(58-60)tTt>tCt	p.F20S		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	20					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)				GGCTGGTGGTTTCGGCAGGTG	0.572000													5	102					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30747940	30747940	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr16:30747940G>T	ENST00000262518.4	+	33	7388	c.7003G>T	c.(7003-7005)Gca>Tca	p.A2335S	SRCAP_ENST00000344771.4_Missense_Mutation_p.A2177S|SRCAP_ENST00000395059.2_Missense_Mutation_p.A2273S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2335	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCTCAAACAGGCAGAAGTGAG	0.537000													7	143					3.09899e-07	3.67451e-07	1	1	0
CEP290	80184	broad.mit.edu	37	12	88512304	88512304	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr12:88512304A>T	ENST00000552810.1	-	17	2010	c.1667T>A	c.(1666-1668)aTt>aAt	p.I556N	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.I558N	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	556					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	p.I558fs*20(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CATTTGACGAATTTTTTTTTT	0.308000													2	5					0	0	1	0	0
DEFA5	1670	broad.mit.edu	37	8	6914167	6914167	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr8:6914167T>C	ENST00000330590.2	-	1	89	c.53A>G	c.(52-54)cAg>cGg	p.Q18R		NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN	defensin, alpha 5, Paneth cell-specific	18					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TGACTCAGCCTGGGCCTGCAG	0.582000													5	204					0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153417395	153417395	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr2:153417395A>T	ENST00000288670.9	+	6	810		c.e6-1			NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2						actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CTTTTGTTTTAGTTTTGACTT	0.428000													4	33					0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39525768	39525768	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr17:39525768G>A	ENST00000251646.3	-	1	284	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	79	Coil 1A.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GCGTTGTCCCGCTCCAGCTGA	0.607000													4	150					0	0	1	0	0
WDR20	91833	broad.mit.edu	37	14	102676199	102676199	+	Splice_Site	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr14:102676199G>A	ENST00000335263.5	+	3	1772	c.1692_splice	c.e3+1	p.V564_splice	WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000545563.1_Silent_p.V391V|WDR20_ENST00000556807.1_Splice_Site_p.V503_splice|WDR20_ENST00000424963.2_Silent_p.V440V|WDR20_ENST00000499851.2_Silent_p.V307V|WDR20_ENST00000342702.3_Silent_p.V564V|WDR20_ENST00000454394.2_Silent_p.V595V|WDR20_ENST00000556511.2_Silent_p.V503V	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	564										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						CTGGTAAAGTGGTAAGTTTTA	0.408000													4	181					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45798245	45798245	+	Silent	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr22:45798245A>T	ENST00000357450.4	-	5	821	c.822T>A	c.(820-822)acT>acA	p.T274T	SMC1B_ENST00000404354.3_Silent_p.T274T	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	274					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GTAGTTGTCTAGTTAGCATTC	0.323000													5	95					0	0	1	0	0
LFNG	3955	broad.mit.edu	37	7	2552830	2552830	+	Silent	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr7:2552830G>A	ENST00000402506.1	+	2	213	c.87G>A	c.(85-87)agG>agA	p.R29R		NM_001166355.1	NP_001159827.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	0					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	p.R29R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		GCTCAGGAAGGCTGTGGGATG	0.532000													12	44					0	0	1	0	0
KANSL1L	151050	broad.mit.edu	37	2	211018808	211018808	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr2:211018808G>T	ENST00000281772.9	-	2	762	c.499C>A	c.(499-501)Caa>Aaa	p.Q167K	KANSL1L_ENST00000457374.1_Missense_Mutation_p.Q167K|KANSL1L_ENST00000452086.1_Missense_Mutation_p.Q167K|KANSL1L_ENST00000418791.1_Missense_Mutation_p.Q167K	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	167								p.Q167K(1)									TTTTGTAGTTGTACTTTATCT	0.333000													20	36					3.99206e-14	4.90875e-14	1	1	0
NCOA4	8031	broad.mit.edu	37	10	51580882	51580882	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr10:51580882A>T	ENST00000452682.1	+	5	585	c.333A>T	c.(331-333)ttA>ttT	p.L111F	NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000374087.4_Missense_Mutation_p.L95F|NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000430396.2_Intron|NCOA4_ENST00000344348.6_Missense_Mutation_p.L95F|NCOA4_ENST00000438493.1_Missense_Mutation_p.L111F|NCOA4_ENST00000374082.1_Missense_Mutation_p.L95F|NCOA4_ENST00000443446.1_Missense_Mutation_p.L95F	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	95					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						TCTTTTAGTTATTGGGCCAGT	0.393000			T	RET	papillary thyroid								3	37					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37367635	37367635	+	Missense_Mutation	SNP	A	A	G	rs146784733		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr3:37367635A>G	ENST00000361924.2	+	14	4632	c.4258A>G	c.(4258-4260)Aaa>Gaa	p.K1420E	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.K1442E	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1420	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTTATCTTTTAAAGTTGACAC	0.373000													3	97					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115141947	115141947	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr1:115141947A>T	ENST00000393274.1	-	16	2856	c.2231T>A	c.(2230-2232)aTt>aAt	p.I744N	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.I687N|DENND2C_ENST00000393277.1_Intron	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	744	DENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGGATTCCAATAAGGAATGG	0.458000													5	132					0	0	1	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27886994	27886994	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr2:27886994C>A	ENST00000326019.6	+	1	657	c.375C>A	c.(373-375)tgC>tgA	p.C125*		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	125						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AGCCGGACTGCGGTGATTTTA	0.627000													10	126					0.000442599	0.000480206	1	1	0
SPEN	23013	broad.mit.edu	37	1	16259479	16259480	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:16259479_16259480insC	ENST00000375759.3	+	11	6948_6949	c.6744_6745insC	c.(6742-6747)caccccfs	p.HP2248fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2248	Interaction with MSX2 (By similarity).|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.A2251fs*102(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAGATCTGCAACCCCCCGCAGG	0.554													7	353	---	---	---	---					
RPS6KA1	6195	broad.mit.edu	37	1	26885310	26885311	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:26885310_26885311insC	ENST00000374168.2	+	14	1251_1252	c.1097_1098insC	c.(1096-1098)accfs	p.T366fs	RPS6KA1_ENST00000530003.1_Frame_Shift_Ins_p.T350fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Ins_p.T274fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Ins_p.T375fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Ins_p.T274fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Ins_p.T355fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	366	AGC-kinase C-terminal.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		TCCCCAGGCATCCCCCCCAGCG	0.673													7	105	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5539-5544)ggggggfs	p.GG1847fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.G1848fs*6(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								10	240	---	---	---	---					
THEMIS2	9473	broad.mit.edu	37	1	28209480	28209481	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:28209480_28209481insC	ENST00000373921.3	+	4	1649_1650	c.1645_1646insC	c.(1645-1647)cccfs	p.P549fs	THEMIS2_ENST00000328928.7_Frame_Shift_Ins_p.P420fs|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000373925.1_Intron	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2																		TGAGATCCAAGCCCCCCCACCC	0.574													9	102	---	---	---	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)cccfs	p.P344fs	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515													8	341	---	---	---	---					
SDC3	9672	broad.mit.edu	37	1	31347369	31347370	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:31347369_31347370insC	ENST00000336798.7	-	2	2254_2255	c.762_763insG	c.(760-765)ggccagfs	p.Q255fs	SDC3_ENST00000339394.6_Frame_Shift_Ins_p.Q313fs			O75056	SDC3_HUMAN	syndecan 3	313	Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCACTGGGCCCCCCACTCA	0.609													8	311	---	---	---	---					
PUM1	9698	broad.mit.edu	37	1	31406073	31406074	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:31406073_31406074insG	ENST00000373747.3	-	22	3653_3654	c.3554_3555insC	c.(3553-3555)caafs	p.Q1185fs	PUM1_ENST00000440538.2_Frame_Shift_Ins_p.Q1158fs|PUM1_ENST00000257075.5_Frame_Shift_Ins_p.Q1182fs|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_ENST00000373741.4_Frame_Shift_Ins_p.Q1220fs|PUM1_ENST00000373742.2_Frame_Shift_Ins_p.Q1123fs	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	309	---	---	---	---					
KIAA1522	57648	broad.mit.edu	37	1	33233494	33233495	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:33233494_33233495insC	ENST00000401073.2	+	2	412_413	c.342_343insC	c.(340-345)cgccccfs	p.RP114fs	KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.RP66fs|KIAA1522_ENST00000373480.1_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000294521.3_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													8	142	---	---	---	---					
MAP7D1	55700	broad.mit.edu	37	1	36636586	36636587	+	Frame_Shift_Ins	INS	-	-	C	rs145462639		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:36636586_36636587insC	ENST00000316156.4	+	2	514_515	c.61_62insC	c.(61-63)cccfs	p.P21fs	MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.P21fs|MAP7D1_ENST00000373151.2_Frame_Shift_Ins_p.P21fs			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	21	Pro-rich.					cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GGTCGCCAGGACCCCCCCAGAG	0.614													8	295	---	---	---	---					
MAP7D1	55700	broad.mit.edu	37	1	36636625	36636626	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:36636625_36636626insC	ENST00000316156.4	+	2	553_554	c.100_101insC	c.(100-102)cccfs	p.P34fs	MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.P34fs|MAP7D1_ENST00000373151.2_Frame_Shift_Ins_p.P34fs			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	34	Pro-rich.					cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				AGGTGACCCTTCCCCCCCACCA	0.594													7	243	---	---	---	---					
CSF3R	1441	broad.mit.edu	37	1	36935322	36935323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:36935322_36935323insG	ENST00000373103.1	-	11	1951_1952	c.1404_1405insC	c.(1402-1407)ccgcgcfs	p.R469fs	CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373106.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.R469fs	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	469	Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGCTCGCGCTGGGGGGGCCCA	0.634													14	319	---	---	---	---					
HIVEP3	59269	broad.mit.edu	37	1	42050006	42050007	+	Frame_Shift_Ins	INS	-	-	G	rs138785392		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													8	228	---	---	---	---					
RNF220	55182	broad.mit.edu	37	1	44878032	44878033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:44878032_44878033insC	ENST00000355387.2	+	2	713_714	c.263_264insC	c.(262-264)tccfs	p.S88fs	RNF220_ENST00000372247.2_Frame_Shift_Ins_p.S88fs|RNF220_ENST00000361799.2_Frame_Shift_Ins_p.S88fs			Q5VTB9	RN220_HUMAN	ring finger protein 220	88					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						AATCGTGATTTCCCCCCTTCTC	0.515													11	1315	---	---	---	---					
LURAP1	541468	broad.mit.edu	37	1	46685795	46685802	+	Frame_Shift_Del	DEL	GTGGACCA	GTGGACCA	-			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:46685795_46685802delGTGGACCA	ENST00000371980.3	+	2	716_723	c.623_630delGTGGACCA	c.(622-630)gfs	p.GGP208fs	POMGNT1_ENST00000371992.1_5'UTR|POMGNT1_ENST00000396420.3_5'UTR	NM_001013615.2	NP_001013633.1	Q96LR2	CA190_HUMAN	leucine rich adaptor protein 1	208					positive regulation of cytokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm											AGGCTTCAAGGTGGACCACCTGAGTCAC	0.587													25	85	---	---	---	---					
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779	by1000genomes	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:59812016_59812017insG	ENST00000371218.4	+	4	595_596	c.411_412insG	c.(409-414)gtggggfs	p.VG137fs	FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000474476.1_3'UTR	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	137					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.500													11	155	---	---	---	---					
LRRC8C	84230	broad.mit.edu	37	1	90179646	90179647	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:90179646_90179647insC	ENST00000370454.4	+	3	1772_1773	c.1517_1518insC	c.(1516-1518)cccfs	p.P506fs	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	506						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		ATGAGGGAACTCCCCCCCTGGA	0.500													7	127	---	---	---	---					
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													16	242	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													26	323	---	---	---	---					
FAM212B	55924	broad.mit.edu	37	1	112269658	112269659	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:112269658_112269659insG	ENST00000357260.5	-	2	1006_1007	c.825_826insC	c.(823-828)cccaagfs	p.K276fs	FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Frame_Shift_Ins_p.K261fs	NM_019099.4	NP_061972.1	Q9NTI7	CA183_HUMAN	family with sequence similarity 212, member B	276										cervix(1)|endometrium(1)	2						GGGCAGCTTGTGGGGGGATTCT	0.574													7	733	---	---	---	---					
MAGI3	260425	broad.mit.edu	37	1	114216006	114216007	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:114216006_114216007insG	ENST00000369615.1	+	19	3170_3171	c.3108_3109insG	c.(3106-3111)cgggggfs	p.RG1036fs	MAGI3_ENST00000369617.4_Frame_Shift_Ins_p.RG1061fs|MAGI3_ENST00000369611.4_Frame_Shift_Ins_p.RG1036fs|MAGI3_ENST00000307546.9_Frame_Shift_Ins_p.RG1036fs	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1061					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-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)		TCAGCCTCCGAGGGGGGAAGGA	0.490													7	361	---	---	---	---					
IGSF3	3321	broad.mit.edu	37	1	117131467	117131468	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:117131467_117131468insC	ENST00000369486.3	-	8	3053_3054	c.2288_2289insG	c.(2287-2289)gctfs	p.A763fs	IGSF3_ENST00000318837.6_Frame_Shift_Ins_p.A783fs|IGSF3_ENST00000369483.1_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													7	253	---	---	---	---					
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1624-1629)gaccccfs	p.DP542fs	ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs|ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	542					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554													11	231	---	---	---	---					
SETDB1	9869	broad.mit.edu	37	1	150917623	150917624	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:150917623_150917624insG	ENST00000368962.2	+	9	1305_1306	c.1179_1180insG	c.(1177-1182)ggggggfs	p.GG393fs	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000271640.5_Intron|SETDB1_ENST00000368969.4_Intron	NM_001243491.1	NP_001230420.1	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	0	Tudor 2.				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)			CAGAGGTTGGTGGGGGGGGAAC	0.475													7	82	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152324299	152324317	+	Frame_Shift_Del	DEL	GATCCTGACTCTGGATAGT	GATCCTGACTCTGGATAGT	-	rs142711008	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:152324299_152324317delGATCCTGACTCTGGATAGT	ENST00000388718.5	-	3	6017_6035	c.5945_5963delACTATCCAGAGTCAGGATC	c.(5944-5964)ccfs	p.HYPESGS1982fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1982							calcium ion binding|structural molecule activity	p.S1988Y(1)		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)			ATGAACTGAGGATCCTGACTCTGGATAGTGAGATCCAGC	0.534													23	742	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152325835	152325848	+	Frame_Shift_Del	DEL	GTGGTATCTCCTGT	GTGGTATCTCCTGT	-			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:152325835_152325848delGTGGTATCTCCTGT	ENST00000388718.5	-	3	4486_4499	c.4414_4427delACAGGAGATACCAC	c.(4414-4428)tfs	p.TGDTT1472fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1472							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)			GGCATGTCTAGTGGTATCTCCTGTCTGTCCATGA	0.500													35	632	---	---	---	---					
SLC39A1	27173	broad.mit.edu	37	1	153934780	153934781	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:153934780_153934781insC	ENST00000368623.3	-	2	992_993	c.233_234insG	c.(232-234)ggtfs	p.G78fs	SLC39A1_ENST00000356205.4_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000537590.1_Intron|SLC39A1_ENST00000310483.6_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000368621.1_Frame_Shift_Ins_p.G78fs			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	78						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	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)	Colorectal(1306;0.019)		CCAAAAAGACGCCCCCCGCGAA	0.614													10	129	---	---	---	---					
NES	10763	broad.mit.edu	37	1	156642803	156642804	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:156642803_156642804insG	ENST00000368223.3	-	4	1308_1309	c.1176_1177insC	c.(1174-1179)cccaccfs	p.T393fs		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	393	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCTGAGGTGTGGGGGGGATGG	0.594													8	116	---	---	---	---					
ISG20L2	81875	broad.mit.edu	37	1	156694022	156694023	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:156694022_156694023insG	ENST00000313146.6	-	2	1647_1648	c.865_866insC	c.(865-867)caafs	p.Q289fs	ISG20L2_ENST00000368219.1_Frame_Shift_Ins_p.Q289fs|ISG20L2_ENST00000472824.1_5'UTR	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	289	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCCGGTTGAGGGGGGGGATA	0.559													8	127	---	---	---	---					
FMO1	2326	broad.mit.edu	37	1	171227337	171227338	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:171227337_171227338insG	ENST00000354841.4	+	1	242_243	c.111_112insG	c.(109-114)ctggggfs	p.LG37fs	FMO1_ENST00000367750.3_Frame_Shift_Ins_p.LG37fs|FMO1_ENST00000402921.2_Frame_Shift_Ins_p.LG37fs|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	37					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCGATGACCTTGGGGGGCTGTG	0.530													13	268	---	---	---	---					
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-255)accfs	p.T85fs	ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAAA	0.480													9	211	---	---	---	---					
PIK3C2B	5287	broad.mit.edu	37	1	204438071	204438072	+	Frame_Shift_Ins	INS	-	-	G	rs115574296	by1000genomes	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													16	255	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396													9	301	---	---	---	---					
PLXNA2	5362	broad.mit.edu	37	1	208315786	208315787	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:208315786_208315787insG	ENST00000367033.3	-	4	2150_2151	c.1393_1394insC	c.(1393-1395)tggfs	p.W465fs		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	465	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane		p.H465fs*57(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GACCCCACCATGGGGGGGACCG	0.594													21	928	---	---	---	---					
ASAP2	8853	broad.mit.edu	37	2	9528642	9528643	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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	70	---	---	---	---					
PSME4	23198	broad.mit.edu	37	2	54096596	54096596	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:54096596delT	ENST00000404125.1	-	44	5235	c.5180delA	c.(5179-5181)ctfs	p.H1727fs	PSME4_ENST00000421748.2_Frame_Shift_Del_p.H871fs|PSME4_ENST00000476586.1_5'UTR	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1727					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTGCTCAAAATGAATCTGCAT	0.408													22	306	---	---	---	---					
ANTXR1	84168	broad.mit.edu	37	2	69409763	69409764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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				10	526	---	---	---	---					
ATP6V1B1	525	broad.mit.edu	37	2	71191572	71191573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:71191572_71191573insC	ENST00000234396.4	+	12	1221_1222	c.1148_1149insC	c.(1147-1149)tccfs	p.S383fs	ATP6V1B1_ENST00000412314.1_Frame_Shift_Ins_p.S366fs|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	383					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCTCAGATCTACCCCCCCATCA	0.545											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	158	---	---	---	---					
SLC4A5	57835	broad.mit.edu	37	2	74480126	74480127	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000359484.4_Frame_Shift_Ins_p.E351fs|SLC4A5_ENST00000358683.4_Frame_Shift_Ins_p.E351fs|SLC4A5_ENST00000357822.5_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000346834.4_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000423644.1_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000483195.1_5'UTR	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													8	401	---	---	---	---					
ADRA2B	151	broad.mit.edu	37	2	96781252	96781253	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:96781252_96781253insC	ENST00000409345.3	-	1	731_732	c.636_637insG	c.(634-639)ggctggfs	p.W213fs		NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	213					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CCCTGCCCAGGCCCCCCCTTGG	0.619													12	336	---	---	---	---					
IL1R2	7850	broad.mit.edu	37	2	102638681	102638682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:102638681_102638682insC	ENST00000332549.3	+	6	950_951	c.721_722insC	c.(721-723)cccfs	p.P241fs	IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.P241fs|IL1R2_ENST00000393414.2_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													7	319	---	---	---	---					
SAP130	79595	broad.mit.edu	37	2	128774049	128774050	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:128774049_128774050insG	ENST00000357702.5	-	4	629_630	c.498_499insC	c.(496-501)ccaggtfs	p.G167fs	SAP130_ENST00000259235.3_Frame_Shift_Ins_p.G167fs|SAP130_ENST00000259234.6_Frame_Shift_Ins_p.G141fs	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	167	Pro-rich.				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)		CCTGGAACCTTGGGGGGAAGTG	0.530													8	157	---	---	---	---					
LOC101928553	101928553	broad.mit.edu	37	2	149629672	149629673	+	RNA	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:149629672_149629673insC	ENST00000601658.1	-	0	676																											CTCTGGCCCTGCCCCCCCCCAA	0.441													6	6	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2053-2058)acggggfs	p.TG685fs	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs	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													7	259	---	---	---	---					
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:171240258_171240259insC	ENST00000334231.6	+	12	1251_1252	c.1251_1252insC	c.(1249-1254)aaccccfs	p.NP417fs	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs			Q8WXR4	MYO3B_HUMAN	myosin IIIB	408	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465													10	336	---	---	---	---					
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cctfs	p.P206fs	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619													17	187	---	---	---	---					
VIL1	7429	broad.mit.edu	37	2	219301230	219301231	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:219301230_219301231insC	ENST00000248444.5	+	16	1940_1941	c.1852_1853insC	c.(1852-1854)cccfs	p.P618fs	VIL1_ENST00000392114.2_Frame_Shift_Ins_p.P307fs	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	618	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGGTCATCACCCCCCGGCTC	0.500													11	634	---	---	---	---					
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)cccfs	p.P404fs	INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs			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													12	330	---	---	---	---					
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													15	353	---	---	---	---					
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr3:141535707_141535708insG	ENST00000264952.2	+	4	1614_1615	c.1477_1478insG	c.(1477-1479)gggfs	p.G493fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	493	AGC-kinase C-terminal.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.R493L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTGAGGTTCGGGGGGTGGAA	0.460													7	455	---	---	---	---					
FRAS1	80144	broad.mit.edu	37	4	79238582	79238583	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													9	147	---	---	---	---					
ANKRD50	57182	broad.mit.edu	37	4	125590618	125590619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr4:125590618_125590619insC	ENST00000504087.1	-	4	4850_4851	c.3813_3814insG	c.(3811-3816)ggaatcfs	p.I1272fs	ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.I1093fs	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1272	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTTTCTGATTTCCCCCCTTTAC	0.391													12	615	---	---	---	---					
PLRG1	5356	broad.mit.edu	37	4	155461206	155461207	+	Splice_Site	INS	-	-	AGA			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr4:155461206_155461207insAGA	ENST00000499023.2	-	11	1066		c.e11-1		PLRG1_ENST00000393905.2_Splice_Site|PLRG1_ENST00000302078.5_Splice_Site	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1							catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CATCCCAAATCTATAAAAACAC	0.342													43	125	---	---	---	---					
SORBS2	8470	broad.mit.edu	37	4	186515043	186515044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr4:186515043_186515044insC	ENST00000431808.1	-	20	3693_3694	c.3130_3131insG	c.(3130-3132)accfs	p.T1044fs	SORBS2_ENST00000448662.2_Frame_Shift_Ins_p.T605fs|RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000437304.2_Frame_Shift_Ins_p.T768fs|SORBS2_ENST00000319471.9_Frame_Shift_Ins_p.T675fs|SORBS2_ENST00000284776.7_Frame_Shift_Ins_p.T1044fs|SORBS2_ENST00000418609.1_Frame_Shift_Ins_p.T948fs|SORBS2_ENST00000449407.2_Frame_Shift_Ins_p.T588fs|SORBS2_ENST00000393528.3_Frame_Shift_Ins_p.T610fs|SORBS2_ENST00000355634.5_Frame_Shift_Ins_p.T1144fs			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	1044	SH3 3.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.E1044fs*8(2)|p.E605fs*8(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TACTTACGGTTCCCCCCCACCT	0.356													7	138	---	---	---	---					
TRIML2	205860	broad.mit.edu	37	4	189012770	189012771	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													9	546	---	---	---	---					
FYB	2533	broad.mit.edu	37	5	39202090	39202091	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:39202090_39202091insC	ENST00000351578.6	-	2	1162_1163	c.972_973insG	c.(970-975)ggcatgfs	p.M325fs	FYB_ENST00000515010.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.M335fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	325					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	p.P325A(3)|p.P335A(1)		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)			TGGCCCCATGGCCCCCCCACTG	0.540													8	154	---	---	---	---					
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggctcfs	p.L277fs	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376													12	237	---	---	---	---					
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													7	101	---	---	---	---					
ZNF608	57507	broad.mit.edu	37	5	123984683	123984684	+	Frame_Shift_Ins	INS	-	-	C	rs151227213		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:123984683_123984684insC	ENST00000306315.5	-	4	1828_1829	c.1393_1394insG	c.(1393-1395)caafs	p.Q465fs	ZNF608_ENST00000504926.1_Frame_Shift_Ins_p.Q38fs	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	465						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTTCCCATTGGCCCCCCCTCTG	0.629													16	468	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C	rs151053868		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)ggttacfs	p.Y2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding.				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			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)		TTACAGGTAAACCCCCCCAGGG	0.421													14	340	---	---	---	---					
TCF7	6932	broad.mit.edu	37	5	133473764	133473765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:133473764_133473765insC	ENST00000395029.1	+	4	651_652	c.456_457insC	c.(454-459)caccccfs	p.HP152fs	TCF7_ENST00000321603.6_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000518915.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000378560.4_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000321584.4_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000520958.1_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													12	101	---	---	---	---					
SRA1	10011	broad.mit.edu	37	5	139931628	139931629	+	In_Frame_Ins	INS	-	-	GTC	rs148588257	by1000genomes	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:139931628_139931629insGTC	ENST00000336283.6	-	3	1149_1150	c.328_329insGAC	c.(328-330)gat>GACgat	p.110_110D>DD	SRA1_ENST00000520427.1_5'UTR	NM_001035235.3	NP_001030312.2	Q9HD15	SRA1_HUMAN	steroid receptor RNA activator 1	110				V -> RL (in Ref. 1; AAG02116 and 2; AAL55868).	apoptosis|cell differentiation|cell proliferation|transcription, DNA-dependent	cytoplasm|ribonucleoprotein complex	receptor activity			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCTCCATCACAGCCTCAGAC	0.589													37	266	---	---	---	---					
PCDHGC3	5098	broad.mit.edu	37	5	140857727	140857728	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:140857727_140857728insC	ENST00000308177.3	+	1	2148_2149	c.2044_2045insC	c.(2044-2046)cccfs	p.P682fs	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGGCTCTGCCCCCCGGGAG	0.515											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	260	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)ggggatfs	p.D763fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCTGGATCCTCCCCCCAGCGA	0.579													12	788	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049509	141049510	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													9	1000	---	---	---	---					
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													12	315	---	---	---	---					
SPRY4	81848	broad.mit.edu	37	5	141694153	141694154	+	Frame_Shift_Ins	INS	-	-	G	rs144353509		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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				7	472	---	---	---	---					
RBM27	54439	broad.mit.edu	37	5	145613113	145613114	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:145613113_145613114insC	ENST00000265271.5	+	7	1117_1118	c.951_952insC	c.(949-954)ccccccfs	p.PP317fs	RBM27_ENST00000506502.1_Frame_Shift_Ins_p.PP317fs	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	317	Pro-rich.				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCTTTCCCACCCCCTCCTCC	0.550													7	876	---	---	---	---					
PPP2R2B	5521	broad.mit.edu	37	5	145969651	145969652	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:145969651_145969652insC	ENST00000394413.3	-	9	1760_1761	c.1190_1191insG	c.(1189-1191)gaafs	p.E397fs	PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.E455fs|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.E400fs|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.E403fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.E463fs			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													8	688	---	---	---	---					
SLC6A7	6534	broad.mit.edu	37	5	149581960	149581961	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:149581960_149581961insG	ENST00000230671.2	+	7	1280_1281	c.909_910insG	c.(907-912)ttggggfs	p.LG303fs	SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.LG303fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	303						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GTGTGGGCTTCGGGGGGCTCCT	0.569													7	1174	---	---	---	---					
FNDC9	408263	broad.mit.edu	37	5	156769909	156769910	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:156769909_156769910insC	ENST00000312349.4	-	2	822_823	c.635_636insG	c.(634-636)gggfs	p.G212fs	CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000442283.2_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	212						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GTGGGTCACCACCCCCCCTCTG	0.584											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	309	---	---	---	---					
ADAM19	8728	broad.mit.edu	37	5	156915296	156915297	+	Frame_Shift_Ins	INS	-	-	G	rs11466804	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:156915296_156915297insG	ENST00000257527.4	-	21	2604_2605	c.2526_2527insC	c.(2524-2529)cccaccfs	p.T843fs	ADAM19_ENST00000430702.2_Frame_Shift_Ins_p.T576fs|ADAM19_ENST00000394020.1_Frame_Shift_Ins_p.T845fs|ADAM19_ENST00000517905.1_Frame_Shift_Ins_p.T843fs	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													9	507	---	---	---	---					
MAML1	9794	broad.mit.edu	37	5	179192486	179192487	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:179192486_179192487insC	ENST00000292599.3	+	2	738_739	c.475_476insC	c.(475-477)cccfs	p.P159fs	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	159					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCTCCAGCCTCCCCCCTCGGT	0.594													7	247	---	---	---	---					
EXOC2	55770	broad.mit.edu	37	6	637793	637794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:637793_637794insG	ENST00000230449.4	-	2	160_161	c.25_26insC	c.(25-27)tgtfs	p.C9fs	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	9	IPT/TIG.				exocytosis|protein transport			p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GCCGGTCACAAGGGGGGGTTGT	0.485													12	377	---	---	---	---					
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Frame_Shift_Ins	INS	-	-	C	rs55808116		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:10557409_10557410insC	ENST00000316170.3	+	1	1170_1171	c.753_754insC	c.(751-756)ccccccfs	p.PP251fs	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_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													11	225	---	---	---	---					
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													23	852	---	---	---	---					
GABBR1	2550	broad.mit.edu	37	6	29577143	29577144	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:29577143_29577144insG	ENST00000377034.4	-	15	2056_2057	c.1721_1722insC	c.(1720-1722)cgcfs	p.R574fs	GABBR1_ENST00000377012.4_Frame_Shift_Ins_p.R457fs|GABBR1_ENST00000376977.3_Intron|GABBR1_ENST00000355973.3_Frame_Shift_Ins_p.R457fs|GABBR1_ENST00000377016.4_Frame_Shift_Ins_p.R512fs	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	574					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	TCTGGTCAGCTGGGGGGGACCC	0.540													7	188	---	---	---	---					
DDR1	780	broad.mit.edu	37	6	30867830	30867831	+	Frame_Shift_Ins	INS	-	-	G	rs146246499	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:30867830_30867831insG	ENST00000361741.4	+	12	1492_1493	c.1297_1298insG	c.(1297-1299)gggfs	p.G433fs	DDR1_ENST00000454612.2_3'UTR|DDR1_ENST00000452441.1_3'UTR|DDR1_ENST00000324771.8_3'UTR|DDR1_ENST00000376568.3_3'UTR|DDR1_ENST00000376569.3_3'UTR|DDR1_ENST00000376567.2_3'UTR|DDR1_ENST00000376575.3_3'UTR|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376570.4_3'UTR			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	0					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TGTACATTTTTGGGGGGAGAGA	0.441													11	444	---	---	---	---					
DDX39B	7919	broad.mit.edu	37	6	31503220	31503221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:31503220_31503221insG	ENST00000417556.2	-	7	1333_1334	c.703_704insC	c.(703-705)cgafs	p.R235fs	DDX39B_ENST00000415382.2_Frame_Shift_Ins_p.R142fs|DDX39B_ENST00000458640.1_Frame_Shift_Ins_p.R220fs|DDX39B_ENST00000453105.2_Frame_Shift_Ins_p.R173fs|DDX39B_ENST00000376177.2_Frame_Shift_Ins_p.R220fs|DDX39B_ENST00000396172.1_Frame_Shift_Ins_p.R220fs|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	220	Helicase ATP-binding.				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						CTGCTTCTCGTGGGGGGTCATG	0.436													8	582	---	---	---	---					
BAG6	7917	broad.mit.edu	37	6	31608570	31608571	+	Splice_Site	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:31608570_31608571insG	ENST00000404765.2	-	21	3221_3222	c.2934_splice	c.e21+1	p.A978_splice	BAG6_ENST00000211379.5_Splice_Site_p.A942_splice|BAG6_ENST00000375976.4_Splice_Site_p.A942_splice|BAG6_ENST00000362049.6_Splice_Site_p.A942_splice|BAG6_ENST00000375964.6_Splice_Site_p.A948_splice|BAG6_ENST00000439687.2_Splice_Site_p.A816_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													8	317	---	---	---	---					
C6orf25	80739	broad.mit.edu	37	6	31692528	31692529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:31692528_31692529insC	ENST00000375809.3	+	5	558_559	c.547_548insC	c.(547-549)cccfs	p.P183fs	C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000480039.1_Intron	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TTCAGCTCTGTCCCCCCCACAT	0.579													13	237	---	---	---	---					
BRD2	6046	broad.mit.edu	37	6	32948228	32948229	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:32948228_32948229insC	ENST00000395289.2	+	13	3962_3963	c.2361_2362insC	c.(2359-2364)aaccccfs	p.NP787fs	BRD2_ENST00000374825.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000395287.1_Frame_Shift_Ins_p.NP787fs|BRD2_ENST00000374831.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000449085.2_Frame_Shift_Ins_p.NP705fs|BRD2_ENST00000443797.2_Frame_Shift_Ins_p.NP632fs			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													7	292	---	---	---	---					
RING1	6015	broad.mit.edu	37	6	33178989	33178990	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													10	326	---	---	---	---					
PHF1	5252	broad.mit.edu	37	6	33383636	33383637	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:33383636_33383637insC	ENST00000374516.3	+	15	1736_1737	c.1465_1466insC	c.(1465-1467)cccfs	p.P489fs	PHF1_ENST00000374512.3_Frame_Shift_Ins_p.VP453fs	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	489					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A489V(1)|p.H491fs*3(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CCCTAAAAGTGCCCCCCACTCG	0.530													7	492	---	---	---	---					
SYNGAP1	8831	broad.mit.edu	37	6	33405504	33405505	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:33405504_33405505insC	ENST00000418600.2	+	8	923_924	c.822_823insC	c.(820-825)ctccccfs	p.LP274fs	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Frame_Shift_Ins_p.LP274fs|SYNGAP1_ENST00000428982.2_Frame_Shift_Ins_p.LP215fs	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	274	C2.				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						CCCGGGAGCTGCCCCCCAAGAA	0.599													7	178	---	---	---	---					
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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				61	962	---	---	---	---					
MAPK14	1432	broad.mit.edu	37	6	36068005	36068006	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:36068005_36068006insC	ENST00000229795.3	+	9	1170_1171	c.723_724insC	c.(721-726)acccccfs	p.TP241fs	MAPK14_ENST00000468133.1_Intron|MAPK14_ENST00000229794.4_Intron|MAPK14_ENST00000310795.4_Intron	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	241	Protein kinase.				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|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|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						TGACAGGAACACCCCCCGCTTA	0.426													13	387	---	---	---	---					
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													12	406	---	---	---	---					
MARCKS	4082	broad.mit.edu	37	6	114181729	114181730	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:114181729_114181730insC	ENST00000368635.4	+	2	1354_1355	c.973_974insC	c.(973-975)cccfs	p.P325fs		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	325					energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding			breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		CAGTCCAGAAGCCCCCCCAGCG	0.644													7	44	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)gcafs	p.A623fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_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													16	348	---	---	---	---					
UST	10090	broad.mit.edu	37	6	149395141	149395142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:149395141_149395142insC	ENST00000367463.4	+	8	1213_1214	c.1110_1111insC	c.(1108-1113)aaccccfs	p.NP370fs	UST_ENST00000466695.1_3'UTR	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	370					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		ACGTCAGCAAGCCCCCCCTGAG	0.490													10	175	---	---	---	---					
IPCEF1	26034	broad.mit.edu	37	6	154481012	154481013	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:154481012_154481013insG	ENST00000265198.4	-	12	1419_1420	c.1264_1265insC	c.(1264-1266)ggafs	p.G422fs	IPCEF1_ENST00000519344.1_Frame_Shift_Ins_p.G394fs|IPCEF1_ENST00000367220.4_Frame_Shift_Ins_p.G423fs|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000422970.2_Frame_Shift_Ins_p.G423fs	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1			interaction protein for cytohesin exchange factors 1											breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						CTTGAGTTCCTGGGGGGTGTCA	0.460													9	358	---	---	---	---					
AGPAT4	56895	broad.mit.edu	37	6	161560588	161560589	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:161560588_161560589insG	ENST00000320285.4	-	8	1119_1120	c.907_908insC	c.(907-909)gcgfs	p.A303fs	AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Frame_Shift_Ins_p.A141fs	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	303					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	p.R303fs*7(2)|p.R303fs*60(1)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CCAGGGCCGCCGGGGGGGCACC	0.629													8	165	---	---	---	---					
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:2404085_2404086insG	ENST00000360876.4	+	6	1134_1135	c.1078_1079insG	c.(1078-1080)gggfs	p.G360fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.G360fs	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	360	Sufficient for interaction with EIF3E.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CATTGCTCTATGGGGGGGAGAG	0.475													8	139	---	---	---	---					
DFNA5	1687	broad.mit.edu	37	7	24784270	24784271	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:24784270_24784271insC	ENST00000342947.3	-	3	739_740	c.314_315insG	c.(313-315)gagfs	p.E105fs	DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000409775.3_Frame_Shift_Ins_p.E105fs|DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000545231.1_5'UTR	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	105					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CGCGGCTGCTGCCCCCCAGGTT	0.559													7	185	---	---	---	---					
LINC00957	255031	broad.mit.edu	37	7	44080548	44080549	+	RNA	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:44080548_44080549insC	ENST00000441052.1	+	0	1233_1234																											TGCGCCCCGCACCCCCCCGGAG	0.614													7	28	---	---	---	---					
LIMK1	3984	broad.mit.edu	37	7	73535322	73535323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:73535322_73535323insC	ENST00000418310.1	+	15	1916_1917	c.1814_1815insC	c.(1813-1815)tccfs	p.S605fs	LIMK1_ENST00000336180.2_Frame_Shift_Ins_p.S575fs|LIMK1_ENST00000538333.3_Frame_Shift_Ins_p.S541fs			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													7	152	---	---	---	---					
PTPN12	5782	broad.mit.edu	37	7	77256343	77256343	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:77256343delT	ENST00000248594.6	+	13	1619	c.1347delT	c.(1345-1347)agfs	p.S449fs	PTPN12_ENST00000415482.2_Frame_Shift_Del_p.S330fs|PTPN12_ENST00000435495.2_Frame_Shift_Del_p.S319fs	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	449						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GACCAAAAAGTTTTGATGGGA	0.338													16	59	---	---	---	---					
AKAP9	10142	broad.mit.edu	37	7	91732038	91732039	+	Frame_Shift_Ins	INS	-	-	G	rs143306820		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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								14	331	---	---	---	---					
PCOLCE	5118	broad.mit.edu	37	7	100205413	100205414	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:100205413_100205414insC	ENST00000223061.5	+	8	1446_1447	c.1166_1167insC	c.(1165-1167)tccfs	p.S389fs		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	389	NTR.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	p.M392fs*>59(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCAAGCAGTGCCCCCCCATGA	0.510													9	211	---	---	---	---					
AP1S1	1174	broad.mit.edu	37	7	100802404	100802405	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:100802404_100802405insG	ENST00000337619.5	+	4	474_475	c.356_357insG	c.(355-357)aggfs	p.R119fs		NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	119					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGTTTTTGATGGGGGGGGATG	0.564													10	85	---	---	---	---					
PLOD3	8985	broad.mit.edu	37	7	100856125	100856126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													11	103	---	---	---	---					
KCNH2	3757	broad.mit.edu	37	7	150656678	150656679	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													9	199	---	---	---	---					
SLC18A1	6570	broad.mit.edu	37	8	20004787	20004788	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr8:20004787_20004788insG	ENST00000440926.1	-	16	1915_1916	c.1445_1446insC	c.(1444-1446)cgcfs	p.R482fs	SLC18A1_ENST00000265808.7_Frame_Shift_Ins_p.R450fs|SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000276373.5_Frame_Shift_Ins_p.R482fs|SLC18A1_ENST00000519026.1_Frame_Shift_Ins_p.R450fs|SLC18A1_ENST00000437980.1_Intron	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	482					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		CTTCCTTTGCCGGGGGGCTCCG	0.500													10	851	---	---	---	---					
DMTN	2039	broad.mit.edu	37	8	21926551	21926552	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr8:21926551_21926552insC	ENST00000358242.3	+	5	767_768	c.274_275insC	c.(274-276)cccfs	p.P92fs	DMTN_ENST00000523266.1_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000519907.1_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000443491.2_Frame_Shift_Ins_p.P67fs|DMTN_ENST00000517600.1_Intron|DMTN_ENST00000381470.3_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000523782.2_Frame_Shift_Ins_p.P67fs|DMTN_ENST00000265800.5_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000432128.1_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000415253.1_Frame_Shift_Ins_p.P92fs					dematin actin binding protein																		CAAATCCACATCCCCCCCACCA	0.604													7	74	---	---	---	---					
EXTL3	2137	broad.mit.edu	37	8	28600719	28600720	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr8:28600719_28600720insC	ENST00000220562.4	+	6	3440_3441	c.2538_2539insC	c.(2536-2541)aaccccfs	p.NP846fs	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Frame_Shift_Ins_p.NP462fs	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	846						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TCACTCGGAAGCCCCCCATCAA	0.520													7	836	---	---	---	---					
POMK	84197	broad.mit.edu	37	8	42958728	42958729	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr8:42958728_42958729insC	ENST00000331373.5	+	4	292_293	c.37_38insC	c.(37-39)cccfs	p.P13fs		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN		13						integral to membrane	ATP binding|protein kinase activity										GAGAGGCCTCGCCCCCCGAGAG	0.540													7	178	---	---	---	---					
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													9	114	---	---	---	---					
KCNB2	9312	broad.mit.edu	37	8	73480397	73480397	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr8:73480397delA	ENST00000523207.1	+	2	1016	c.428delA	c.(427-429)cafs	p.Q143fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	143					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.E146fs*3(1)		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)			AGATATCATCAAAAAAAAGAA	0.448													7	409	---	---	---	---					
PIGO	84720	broad.mit.edu	37	9	35091522	35091523	+	Frame_Shift_Ins	INS	-	-	G	rs144233446		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													8	194	---	---	---	---					
RNF38	152006	broad.mit.edu	37	9	36353239	36353240	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr9:36353239_36353240insG	ENST00000357058.3	-	7	1355_1356	c.749_750insC	c.(748-750)cacfs	p.H250fs	RNF38_ENST00000259605.6_Frame_Shift_Ins_p.H333fs|RNF38_ENST00000377877.4_Frame_Shift_Ins_p.H257fs|RNF38_ENST00000353739.4_Frame_Shift_Ins_p.H283fs|RNF38_ENST00000350199.4_Frame_Shift_Ins_p.H250fs|RNF38_ENST00000377885.2_Frame_Shift_Ins_p.H250fs	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	ring finger protein 38	333	Pro-rich.						zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			GAGGTAATGTTGGGGGGTGGGC	0.460													7	347	---	---	---	---					
CCDC180	100499483	broad.mit.edu	37	9	100082417	100082418	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr9:100082417_100082418insC	ENST00000375202.2	+	25	2573_2574	c.1221_1222insC	c.(1219-1224)ctccccfs	p.LP407fs	CCDC180_ENST00000529487.1_Frame_Shift_Ins_p.LP407fs|CCDC180_ENST00000411667.2_Frame_Shift_Ins_p.LP404fs|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000357054.1_Frame_Shift_Ins_p.LP546fs|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Frame_Shift_Ins_p.LP506fs					coiled-coil domain containing 180																		GTGACCTCCTGCCCCCCAGTTA	0.505													12	372	---	---	---	---					
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													13	240	---	---	---	---					
NUP214	8021	broad.mit.edu	37	9	134073007	134073008	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr9:134073007_134073008insC	ENST00000359428.5	+	29	4270_4271	c.4126_4127insC	c.(4126-4128)cccfs	p.P1376fs	NUP214_ENST00000411637.2_Frame_Shift_Ins_p.P1366fs|NUP214_ENST00000483497.2_Frame_Shift_Ins_p.P202fs|NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000451030.1_Frame_Shift_Ins_p.P1377fs			P35658	NU214_HUMAN	nucleoporin 214kDa	1376	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TAATTTTACTGCCCCCCCGGTG	0.545			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								7	120	---	---	---	---					
RAPGEF1	2889	broad.mit.edu	37	9	134504526	134504527	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr9:134504526_134504527insG	ENST00000372195.1	-	7	1098_1099	c.855_856insC	c.(853-858)ccagccfs	p.A286fs	RAPGEF1_ENST00000372189.3_Frame_Shift_Ins_p.A269fs|RAPGEF1_ENST00000372190.3_Frame_Shift_Ins_p.A287fs|RAPGEF1_ENST00000481260.1_5'UTR			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	269					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		AGAGGAGGCTTGGGGGGCGCGA	0.540													7	181	---	---	---	---					
PHYH	5264	broad.mit.edu	37	10	13325834	13325835	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr10:13325834_13325835insC	ENST00000396920.3	-	7	1036_1037	c.632_633insG	c.(631-633)ggtfs	p.G211fs	PHYH_ENST00000263038.4_Frame_Shift_Ins_p.G228fs|PHYH_ENST00000396913.2_Frame_Shift_Ins_p.G128fs			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	228					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TTTTGTTAACTCCCCCCTAGAA	0.465													8	415	---	---	---	---					
FRMD4A	55691	broad.mit.edu	37	10	13696451	13696452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr10:13696451_13696452insG	ENST00000357447.2	-	23	3382_3383	c.3014_3015insC	c.(3013-3015)cagfs	p.Q1005fs	FRMD4A_ENST00000358621.4_Frame_Shift_Ins_p.Q990fs|FRMD4A_ENST00000378503.1_Frame_Shift_Ins_p.Q1005fs	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	1005	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGGCTGCTTGGGGGGGTGGC	0.535													9	153	---	---	---	---					
ZEB1	6935	broad.mit.edu	37	10	31809832	31809833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr10:31809832_31809833insG	ENST00000446923.2	+	7	1912_1913	c.1521_1522insG	c.(1519-1524)gaggggfs	p.EG507fs	ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs|ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	523					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGCTTTGAAGGGGGGGTGAA	0.371													9	252	---	---	---	---					
CHAT	1103	broad.mit.edu	37	10	50857606	50857607	+	Frame_Shift_Ins	INS	-	-	C	rs3793795		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr10:50857606_50857607insC	ENST00000395562.2	+	11	1658_1659	c.1189_1190insC	c.(1189-1191)cccfs	p.P397fs	CHAT_ENST00000455728.2_Frame_Shift_Ins_p.P361fs|CHAT_ENST00000337653.2_Frame_Shift_Ins_p.P479fs|CHAT_ENST00000395559.2_Frame_Shift_Ins_p.P361fs|CHAT_ENST00000339797.1_Frame_Shift_Ins_p.P361fs|CHAT_ENST00000351556.3_Frame_Shift_Ins_p.P361fs	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	479					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)	CGAGCTCCCCGCCCCCCGGAGG	0.609													7	174	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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_ENST00000540668.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	456					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.510													18	507	---	---	---	---					
ZSWIM8	23053	broad.mit.edu	37	10	75560463	75560464	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr10:75560463_75560464insC	ENST00000604729.1	+	24	5365_5366	c.5068_5069insC	c.(5068-5070)cccfs	p.P1690fs	ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.P1698fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.P1652fs|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000605216.1_Frame_Shift_Ins_p.P1693fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.P1511fs					zinc finger, SWIM-type containing 8																		CTTCTCCCGCTCCCCCCCCTAC	0.604													7	68	---	---	---	---					
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr10:101816832_101816833insG	ENST00000370418.3	-	6	1199_1200	c.948_949insC	c.(946-951)ccaagafs	p.R317fs		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	317	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AACTCCTCTTCGGGGGGAAACT	0.470													19	569	---	---	---	---					
PAX2	5076	broad.mit.edu	37	10	102509528	102509529	+	Frame_Shift_Ins	INS	-	-	G	rs75462234		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr10:102509528_102509529insG	ENST00000370296.2	+	2	619_620	c.69_70insG	c.(67-72)ctggggfs	p.LG23fs	PAX2_ENST00000355243.3_Frame_Shift_Ins_p.LG23fs|PAX2_ENST00000361791.3_Frame_Shift_Ins_p.LG23fs|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000428433.1_Frame_Shift_Ins_p.LG23fs|PAX2_ENST00000556085.1_Frame_Shift_Ins_p.LG22fs			Q02962	PAX2_HUMAN	paired box 2	23	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TGAACCAGCTCGGGGGGGTGTT	0.663													8	63	---	---	---	---					
PSD	5662	broad.mit.edu	37	10	104175780	104175781	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr10:104175780_104175781insG	ENST00000020673.5	-	3	1276_1277	c.750_751insC	c.(748-753)ccgctcfs	p.L251fs	PSD_ENST00000406432.1_Frame_Shift_Ins_p.L251fs	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	251					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			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)		TTACCTGAGCTGGGGGGGTCCA	0.604													2	4	---	---	---	---					
TRUB1	142940	broad.mit.edu	37	10	116730191	116730192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr10:116730191_116730192insC	ENST00000298746.3	+	5	649_650	c.588_589insC	c.(586-591)gtccccfs	p.VP196fs		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	196					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TAATGCAAGTGCCCCCCCTGTA	0.317													7	146	---	---	---	---					
OR56B1	387748	broad.mit.edu	37	11	5758618	5758619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:5758618_5758619insC	ENST00000317121.3	+	1	938_939	c.872_873insC	c.(871-873)accfs	p.T291fs	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CACAACATCATCCCCCCTTCCC	0.406													8	1246	---	---	---	---					
STK33	65975	broad.mit.edu	37	11	8414087	8414088	+	In_Frame_Ins	INS	-	-	CCAGAA			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:8414087_8414088insCCAGAA	ENST00000447869.1	-	12	2432_2433	c.1514_1515insTTCTGG	c.(1513-1515)ggc>gTTCTGGgc	p.504_505insVL	STK33_ENST00000396673.1_In_Frame_Ins_p.438_439insVL|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000396672.1_In_Frame_Ins_p.504_505insVL|STK33_ENST00000534493.1_In_Frame_Ins_p.463_464insVL|STK33_ENST00000358872.3_In_Frame_Ins_p.317_318insVL|STK33_ENST00000315204.1_In_Frame_Ins_p.504_505insVL			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	504						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TGGACAGGGCGCCGGATTTAGC	0.480													23	392	---	---	---	---					
ZDHHC5	25921	broad.mit.edu	37	11	57464257	57464258	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:57464257_57464258insC	ENST00000287169.3	+	10	2396_2397	c.1034_1035insC	c.(1033-1035)accfs	p.T345fs	ZDHHC5_ENST00000527985.1_Frame_Shift_Ins_p.T292fs	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	345						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						GCCAAGGACAGCCCCCCGACAC	0.515													35	1660	---	---	---	---					
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													12	583	---	---	---	---					
DDB1	1642	broad.mit.edu	37	11	61094367	61094368	+	Splice_Site	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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)					8	264	---	---	---	---					
BSCL2	26580	broad.mit.edu	37	11	62458782	62458783	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:62458782_62458783insC	ENST00000433053.1	-	8	1530_1531	c.974_975insG	c.(973-975)gatfs	p.D325fs	RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000403550.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000278893.7_Intron|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.D261fs			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	261					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GGGGCCAGATGCCCCCCCACAC	0.559													14	215	---	---	---	---					
YIF1A	10897	broad.mit.edu	37	11	66055104	66055105	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													7	63	---	---	---	---					
DPP3	10072	broad.mit.edu	37	11	66272154	66272155	+	Frame_Shift_Ins	INS	-	-	C	rs142447712		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:66272154_66272155insC	ENST00000532677.1	+	17	2408_2409	c.2007_2008insC	c.(2005-2010)gcccccfs	p.AP669fs	DPP3_ENST00000541961.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000360510.2_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.AP670fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.AP620fs	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	650					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCACTGATGCGCCCCCCGAGTG	0.579													9	165	---	---	---	---					
CCS	9973	broad.mit.edu	37	11	66366957	66366958	+	Frame_Shift_Ins	INS	-	-	G	rs61731811	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:66366957_66366958insG	ENST00000533244.1	+	4	719_720	c.278_279insG	c.(277-279)cggfs	p.R93fs	CCS_ENST00000310190.4_Frame_Shift_Ins_p.R74fs	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	93	Superoxide dismutase-like.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GTGGCCATCCTGGGGGGGCCTG	0.644													7	79	---	---	---	---					
RPS6KB2	6199	broad.mit.edu	37	11	67196695	67196696	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:67196695_67196696insG	ENST00000312629.5	+	3	269_270	c.224_225insG	c.(223-225)aggfs	p.R75fs	RPS6KB2_ENST00000524814.1_3'UTR|RPS6KB2_ENST00000539188.1_Frame_Shift_Ins_p.R75fs	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	75	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GTGCTGGGCAAGGGGGGCTATG	0.599													7	993	---	---	---	---					
COA4	51287	broad.mit.edu	37	11	73584444	73584447	+	Frame_Shift_Del	DEL	AGAA	AGAA	-			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:73584444_73584447delAGAA	ENST00000541455.1	-	2	397_400	c.4_7delTTCT	c.(4-9)atfs	p.FY2fs	COA4_ENST00000537289.1_Intron|COA4_ENST00000545127.1_Intron|COA4_ENST00000355693.4_Intron					cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)																		GGGAGTCTATAGAACATTAACAGG	0.471													32	89	---	---	---	---					
DDX6	1656	broad.mit.edu	37	11	118629613	118629614	+	Splice_Site	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:118629613_118629614insG	ENST00000264018.4	-	9	1170		c.e9-2		DDX6_ENST00000534980.1_Splice_Site|DDX6_ENST00000526070.2_Splice_Site	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL								39	368	---	---	---	---					
CCDC153	283152	broad.mit.edu	37	11	119061042	119061043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:119061042_119061043insG	ENST00000503566.2	-	6	598_599	c.599_600insC	c.(598-600)cggfs	p.R200fs	CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.R200fs			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	200										lung(3)|stomach(1)	4						TCAAAGATCCAGGGGGGGTGAG	0.569													7	208	---	---	---	---					
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)cccfs	p.P23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A23T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCGCTGGACGCCCCCCTCTTT	0.589													7	374	---	---	---	---					
NCAPD3	23310	broad.mit.edu	37	11	134048585	134048586	+	Frame_Shift_Ins	INS	-	-	G	rs138442478		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:134048585_134048586insG	ENST00000534548.2	-	22	2789_2790	c.2725_2726insC	c.(2725-2727)ggtfs	p.G909fs		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	909					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.Q909fs*12(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCTCTGACCTGGGGGGGTGGC	0.525													10	142	---	---	---	---					
MRPL51	51258	broad.mit.edu	37	12	6602094	6602095	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:6602094_6602095insG	ENST00000229238.3	-	2	584_585	c.123_124insC	c.(121-126)ccaagtfs	p.S42fs	MRPL51_ENST00000543164.1_5'UTR|MRPL51_ENST00000543703.1_Intron	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	42					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			kidney(2)|large_intestine(1)|lung(3)	6						TCAACCACTTTGGGGGGCGGGA	0.510													7	477	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-492)cggfs	p.R164fs	CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs|CD4_ENST00000538827.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAGA	0.564													17	386	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													13	615	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:14019043_14019044insG	ENST00000279593.3	-	2	308_309	c.99_100insC	c.(97-102)ccgcatfs	p.H34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCCAATGCTGGGGGGGCTCT	0.589													9	113	---	---	---	---					
WBP11	51729	broad.mit.edu	37	12	14940365	14940366	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:14940365_14940366insG	ENST00000261167.2	-	12	1792_1793	c.1559_1560insC	c.(1558-1560)cggfs	p.R520fs	WBP11_ENST00000537574.1_Frame_Shift_Ins_p.R486fs	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	520	Pro-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	p.G521fs*28(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GGAACAGCCCAGGGGGGGCAGG	0.550													19	229	---	---	---	---					
KLHL42	57542	broad.mit.edu	37	12	27950768	27950769	+	Frame_Shift_Ins	INS	-	-	G	rs145908611	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:27950768_27950769insG	ENST00000381271.2	+	3	1498_1499	c.1187_1188insG	c.(1186-1188)gggfs	p.G396fs		NM_020782.1	NP_065833.1			kelch-like family member 42																		ATCTACATCGTGGGGGGGTGTC	0.594													31	462	---	---	---	---					
OVOS2	144203	broad.mit.edu	37	12	31269805	31269806	+	RNA	INS	-	-	AAG	rs67001718		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:31269805_31269806insAAG	ENST00000542490.1	-	0	52																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CAATATTCCTCAAACTTCTCTT	0.307													4	3	---	---	---	---					
NCKAP1L	3071	broad.mit.edu	37	12	54914555	54914556	+	Frame_Shift_Ins	INS	-	-	C	rs148042893		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:54914555_54914556insC	ENST00000293373.6	+	17	1782_1783	c.1703_1704insC	c.(1702-1704)tccfs	p.S568fs	NCKAP1L_ENST00000545638.2_Frame_Shift_Ins_p.S518fs	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	568					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GCCATTGCTTTCCCCCTGATTT	0.470													9	1490	---	---	---	---					
IKZF4	64375	broad.mit.edu	37	12	56429092	56429093	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:56429092_56429093insG	ENST00000262032.5	+	12	2102_2103	c.1735_1736insG	c.(1735-1737)gggfs	p.G579fs	RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.G534fs|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.G579fs|IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.G477fs			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	579					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCACATTGTCCGGGGGGAGCAT	0.554													8	555	---	---	---	---					
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:56742816_56742817insG	ENST00000314128.4	-	17	1490_1491	c.1467_1468insC	c.(1465-1470)ccaggcfs	p.G490fs	STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	490					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594													20	213	---	---	---	---					
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)gggfs	p.G272fs	GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs|GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs	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													46	822	---	---	---	---					
SLC26A10	65012	broad.mit.edu	37	12	58014153	58014154	+	Frame_Shift_Ins	INS	-	-	C	rs143040192		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:58014153_58014154insC	ENST00000379218.2	+	1	461_462	c.150_151insC	c.(148-153)gtccccfs	p.VP50fs	SLC26A10_ENST00000320442.4_Frame_Shift_Ins_p.VP50fs			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	50						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TGGCCTCCGTGCCCCCGGTGTT	0.564													7	2393	---	---	---	---					
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:69233089_69233090insC	ENST00000462284.1	+	11	1256_1257	c.954_955insC	c.(952-957)aaccccfs	p.NP318fs	MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs	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"""								12	268	---	---	---	---					
BEST3	144453	broad.mit.edu	37	12	70049361	70049362	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:70049361_70049362insG	ENST00000330891.5	-	10	1558_1559	c.1332_1333insC	c.(1330-1335)ccgggcfs	p.PG444fs	BEST3_ENST00000553096.1_Frame_Shift_Ins_p.PG338fs|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs|BEST3_ENST00000331471.4_Intron	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	444						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTGAGGCCCTGGGGGGGTTTC	0.594													9	213	---	---	---	---					
USP30	84749	broad.mit.edu	37	12	109495864	109495865	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:109495864_109495865insC	ENST00000257548.5	+	3	420_421	c.327_328insC	c.(325-330)gaccccfs	p.DP109fs	USP30_ENST00000392784.2_Frame_Shift_Ins_p.DP78fs	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	109					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ATCAGAAGGAGCCCCCCTCACA	0.485													8	1078	---	---	---	---					
OAS3	4940	broad.mit.edu	37	12	113388496	113388497	+	Splice_Site	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:113388496_113388497insG	ENST00000228928.7	+	7	1553		c.e7-1		RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa						interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TTCCCTCCACAGGGGGGCTCAT	0.594													9	1464	---	---	---	---					
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:120800902_120800903insC	ENST00000257552.2	-	6	433_434	c.345_346insG	c.(343-348)ggtgtcfs	p.V116fs		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	116	RRM 2.				nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACCGACAGCCCCCCCACAA	0.564													20	286	---	---	---	---					
CCDC92	80212	broad.mit.edu	37	12	124422018	124422019	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:124422018_124422019insG	ENST00000545135.1	-	3	3827_3828	c.531_532insC	c.(529-534)ccaagafs	p.R178fs	CCDC92_ENST00000238156.3_Frame_Shift_Ins_p.R195fs|CCDC92_ENST00000545891.1_Frame_Shift_Ins_p.R178fs|CCDC92_ENST00000544798.1_Intron			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	195										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		AGCTTGTCTTTGGGGGGCGCTG	0.624													8	366	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132466645	132466646	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:132466645_132466646insC	ENST00000333577.4	+	6	1768_1769	c.1659_1660insC	c.(1657-1662)atccccfs	p.IP553fs	EP400_ENST00000330386.6_Frame_Shift_Ins_p.IP517fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.IP480fs|EP400_ENST00000389562.2_Frame_Shift_Ins_p.IP516fs|EP400_ENST00000389561.2_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													7	506	---	---	---	---					
TEP1	7011	broad.mit.edu	37	14	20852646	20852647	+	Frame_Shift_Ins	INS	-	-	C	rs144584331		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr14:20852646_20852647insC	ENST00000262715.5	-	23	3282_3283	c.3242_3243insG	c.(3241-3243)ggtfs	p.G1081fs	TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G973fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1081					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.V1082fs*47(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGCTGCCACACCCCCCCACTC	0.584													15	249	---	---	---	---					
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr14:21820849_21820850insG	ENST00000216297.2	-	26	3464_3465	c.3126_3127insC	c.(3124-3129)ccagaafs	p.E1043fs		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	1043					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCTTTTTCTTGGGGGGTGCAG	0.480													8	357	---	---	---	---					
OR10G2	26534	broad.mit.edu	37	14	22102924	22102925	+	Frame_Shift_Ins	INS	-	-	G	rs150140072		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													7	221	---	---	---	---					
TRAV3	28690	broad.mit.edu	37	14	22192097	22192098	+	RNA	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr14:22192097_22192098insC	ENST00000390425.2	+	0	138_139																											GCTGGAAAGGACCCCCCCAATC	0.574													14	222	---	---	---	---					
RBM23	55147	broad.mit.edu	37	14	23371029	23371030	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr14:23371029_23371030insG	ENST00000359890.3	-	13	1504_1505	c.1309_1310insC	c.(1309-1311)gacfs	p.D437fs	RBM23_ENST00000346528.5_Frame_Shift_Ins_p.D403fs|RBM23_ENST00000555209.1_Frame_Shift_Ins_p.D187fs|RBM23_ENST00000542016.2_Frame_Shift_Ins_p.D267fs|RBM23_ENST00000399922.2_Frame_Shift_Ins_p.D421fs	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	437					mRNA processing	nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TCACATGGTCTGGGGGGTAAAG	0.505													8	694	---	---	---	---					
ACIN1	22985	broad.mit.edu	37	14	23549377	23549378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr14:23549377_23549378insG	ENST00000262710.1	-	6	1667_1668	c.1340_1341insC	c.(1339-1341)ggtfs	p.G447fs	ACIN1_ENST00000605057.1_Frame_Shift_Ins_p.G389fs|ACIN1_ENST00000457657.1_Frame_Shift_Ins_p.G407fs|ACIN1_ENST00000555053.1_Frame_Shift_Ins_p.G447fs	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													8	235	---	---	---	---					
LRRC16B	90668	broad.mit.edu	37	14	24532702	24532703	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr14:24532702_24532703insC	ENST00000342740.5	+	31	3093_3094	c.2939_2940insC	c.(2938-2940)cccfs	p.P980fs	LRRC16B_ENST00000334420.7_Frame_Shift_Ins_p.P76fs	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	980										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGGAGGCCCCGCCCCCCCAGGA	0.594													9	136	---	---	---	---					
ABHD12B	145447	broad.mit.edu	37	14	51347189	51347190	+	Frame_Shift_Ins	INS	-	-	G	rs141865189		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr14:51347189_51347190insG	ENST00000337334.2	+	4	370_371	c.355_356insG	c.(355-357)gggfs	p.G119fs	PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000353130.1_Frame_Shift_Ins_p.G42fs|ABHD12B_ENST00000554241.1_3'UTR|ABHD12B_ENST00000395752.1_Frame_Shift_Ins_p.G12fs	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	119							hydrolase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					CCCCAGCTGCCGGGGGGAAGAT	0.490													10	298	---	---	---	---					
MED6	10001	broad.mit.edu	37	14	71051554	71051555	+	Frame_Shift_Ins	INS	-	-	G	rs145634622	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr14:71051554_71051555insG	ENST00000256379.5	-	8	745_746	c.716_717insC	c.(715-717)cgafs	p.R239fs	MED6_ENST00000554963.1_Frame_Shift_Ins_p.R239fs|MED6_ENST00000430055.2_Frame_Shift_Ins_p.R246fs|MED6_ENST00000440435.2_3'UTR	NM_005466.2	NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	239					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity	p.E240fs*1(1)		large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		TCCGTTTTTCAGGGGGGCCTTT	0.450													9	893	---	---	---	---					
FAM161B	145483	broad.mit.edu	37	14	74413296	74413297	+	Frame_Shift_Ins	INS	-	-	G	rs113301882	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr14:74413296_74413297insG	ENST00000286544.3	-	2	453_454	c.255_256insC	c.(253-258)ccagtcfs	p.V86fs	FAM161B_ENST00000534936.1_Frame_Shift_Ins_p.V23fs	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						GCGAAGGACTCGGGGGGAAATA	0.465													7	561	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25310192	25310193	+	RNA	INS	-	-	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr15:25310192_25310193insA	ENST00000549804.2	+	0	538				SNORD116-6_ENST00000384711.1_RNA|SNHG14_ENST00000551077.1_RNA																							ATGAGTCCTCCAAAAAAAACAT	0.475													9	248	---	---	---	---					
HERC2	8924	broad.mit.edu	37	15	28478873	28478874	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr15:28478873_28478874insG	ENST00000261609.7	-	28	4395_4396	c.4287_4288insC	c.(4285-4290)ccagcafs	p.A1430fs		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1430					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.P1429P(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACGGGATGCTCGGGGGGAAACA	0.450													7	194	---	---	---	---					
CAPN3	825	broad.mit.edu	37	15	42703178	42703179	+	Frame_Shift_Ins	INS	-	-	TTCA	rs80338804		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr15:42703178_42703179insTTCA	ENST00000397163.3	+	22	2579_2580	c.2360_2361insTTCA	c.(2359-2361)gagfs	p.E787fs	CAPN3_ENST00000318023.7_Frame_Shift_Ins_p.E781fs|CAPN3_ENST00000561817.1_Frame_Shift_Ins_p.E122fs|CAPN3_ENST00000562199.1_3'UTR|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000569136.1_Frame_Shift_Ins_p.E122fs|CAPN3_ENST00000349748.3_Frame_Shift_Ins_p.E695fs|CAPN3_ENST00000337571.4_Frame_Shift_Ins_p.E122fs|CAPN3_ENST00000356316.3_Frame_Shift_Ins_p.E694fs|CAPN3_ENST00000357568.3_Frame_Shift_Ins_p.E781fs|CAPN3_ENST00000397200.4_Frame_Shift_Ins_p.E275fs|CAPN3_ENST00000397204.4_Frame_Shift_Ins_p.E122fs	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	787	Domain IV.|EF-hand 4.				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)		TGCTGCTTCGTTAGGCTGGAGG	0.515													57	200	---	---	---	---					
ZNF106	64397	broad.mit.edu	37	15	42731523	42731524	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr15:42731523_42731524insC	ENST00000263805.4	-	8	4508_4509	c.4182_4183insG	c.(4180-4185)ggaagtfs	p.S1395fs	ZNF106_ENST00000565380.1_Frame_Shift_Ins_p.S623fs|ZNF106_ENST00000565611.1_Frame_Shift_Ins_p.S580fs	NM_022473.1	NP_071918.1			zinc finger protein 106																		GTTGTTACTTTCCCCCCTTTAA	0.465													7	278	---	---	---	---					
LARP6	55323	broad.mit.edu	37	15	71125256	71125257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													8	402	---	---	---	---					
IGF1R	3480	broad.mit.edu	37	15	99251108	99251109	+	Frame_Shift_Ins	INS	-	-	G	rs121912426		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													9	262	---	---	---	---					
IL9RP3	729486	broad.mit.edu	37	16	81765	81766	+	RNA	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:81765_81766insC	ENST00000568710.1	-	0	434																											GGCAACCCCTGCCCCCCATGTC	0.564													9	489	---	---	---	---					
SRRM2	23524	broad.mit.edu	37	16	2815060	2815061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:2815060_2815061insC	ENST00000301740.8	+	11	5080_5081	c.4531_4532insC	c.(4531-4533)cccfs	p.P1511fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1511	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAAGTGTCTTACCCCCCAGAGA	0.525													7	518	---	---	---	---					
SLX4	84464	broad.mit.edu	37	16	3634840	3634841	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:3634840_3634841insG	ENST00000294008.3	-	13	5308_5309	c.4668_4669insC	c.(4666-4671)ccaagtfs	p.S1557fs		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1557	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ATGGGCACTTTGGGGGGCAAGT	0.500								Direct reversal of damage					14	826	---	---	---	---					
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													13	580	---	---	---	---					
DNAH3	55567	broad.mit.edu	37	16	20966297	20966298	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:20966297_20966298insG	ENST00000261383.3	-	55	10907_10908	c.10908_10909insC	c.(10906-10911)ccaaggfs	p.R3637fs	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3637	AAA 6 (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)		CGGAGCCCTTTGGGGGGCTCAT	0.510													10	310	---	---	---	---					
RRN3P1	730092	broad.mit.edu	37	16	21814059	21814060	+	RNA	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:21814059_21814060insG	ENST00000546471.1	-	0	1607																											CCTATAACAAAGGGGGGGGAAA	0.381													7	77	---	---	---	---					
SRCAP	10847	broad.mit.edu	37	16	30733909	30733910	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:30733909_30733910insG	ENST00000262518.4	+	23	4117_4118	c.3732_3733insG	c.(3730-3735)gcggggfs	p.AG1244fs	SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1244	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCGTGTCAGCAGGGGGGCAGCA	0.614													7	543	---	---	---	---					
ZNF668	79759	broad.mit.edu	37	16	31072705	31072706	+	Frame_Shift_Ins	INS	-	-	G	rs77284397		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:31072705_31072706insG	ENST00000538906.1	-	3	2327_2328	c.1543_1544insC	c.(1543-1545)gttfs	p.V515fs	ZNF668_ENST00000535577.1_Frame_Shift_Ins_p.V515fs|ZNF668_ENST00000426488.2_Frame_Shift_Ins_p.V538fs|ZNF668_ENST00000539836.3_Frame_Shift_Ins_p.V538fs|ZNF668_ENST00000300849.4_Frame_Shift_Ins_p.V515fs|ZNF668_ENST00000394983.2_Frame_Shift_Ins_p.V515fs	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCACACAAACTGGGGGGGCTTC	0.663													8	117	---	---	---	---					
ITGAD	3681	broad.mit.edu	37	16	31422532	31422533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:31422532_31422533insG	ENST00000389202.2	+	13	1541_1542	c.1492_1493insG	c.(1492-1494)gggfs	p.G498fs		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	498					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						TCCCTTGCCTAGGGGGGTGAGT	0.629													11	724	---	---	---	---					
ITGAD	3681	broad.mit.edu	37	16	31426253	31426254	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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	223	---	---	---	---					
CNGB1	1258	broad.mit.edu	37	16	57938727	57938728	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													7	414	---	---	---	---					
C16orf70	80262	broad.mit.edu	37	16	67180988	67180989	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													14	204	---	---	---	---					
DPEP2	64174	broad.mit.edu	37	16	68021467	68021468	+	Frame_Shift_Ins	INS	-	-	G	rs1133090	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													8	356	---	---	---	---					
FA2H	79152	broad.mit.edu	37	16	74752942	74752943	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													7	258	---	---	---	---					
TERF2IP	54386	broad.mit.edu	37	16	75690386	75690388	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:75690386_75690388delTCC	ENST00000300086.4	+	3	1174_1176	c.1077_1079delTCC	c.(1075-1080)tac>ta	p.YP359del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	359					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						CTGATGGATATCCCATTTGGTCC	0.453													8	391	---	---	---	---					
PAFAH1B1	5048	broad.mit.edu	37	17	2583499	2583500	+	Frame_Shift_Ins	INS	-	-	G	rs113994201		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:2583499_2583500insG	ENST00000397195.5	+	10	1495_1496	c.1044_1045insG	c.(1042-1047)tcggggfs	p.SG348fs	PAFAH1B1_ENST00000397193.3_3'UTR|PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.SG143fs	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	348	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TGTTCCATTCTGGGGGGAAGTT	0.401													8	604	---	---	---	---					
ALOX12	239	broad.mit.edu	37	17	6903739	6903740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:6903739_6903740insC	ENST00000251535.6	+	7	945_946	c.892_893insC	c.(892-894)cccfs	p.P298fs	AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	298	Lipoxygenase.		A -> T.		anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATACCTGGCTGCCCCCCTCGTT	0.554													16	1102	---	---	---	---					
FXR2	9513	broad.mit.edu	37	17	7496121	7496122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:7496121_7496122insG	ENST00000250113.7	-	14	1953_1954	c.1619_1620insC	c.(1618-1620)cgcfs	p.R540fs		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	540						cytosolic large ribosomal subunit	protein binding|RNA binding	p.P540fs*32(1)|p.A541fs*14(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TGGCACTTGCTGGGGGGGGTTC	0.609													12	51	---	---	---	---					
EFNB3	1949	broad.mit.edu	37	17	7612855	7612856	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													8	165	---	---	---	---					
MYH3	4621	broad.mit.edu	37	17	10555835	10555836	+	Frame_Shift_Ins	INS	-	-	G	rs139160750		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:10555835_10555836insG	ENST00000583535.1	-	4	336_337	c.249_250insC	c.(247-252)ccagttfs	p.V84fs	MYH3_ENST00000226209.7_Frame_Shift_Ins_p.V84fs	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	84	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTGTCGAACTTGGGGGGGTTCA	0.495													18	210	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:27959374_27959375insG	ENST00000269033.3	-	15	2907_2908	c.2756_2757insC	c.(2755-2757)cgafs	p.R919fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R946fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					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						ATGAATGTTCTGGGGGGGCTTC	0.480													58	885	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27963294	27963295	+	Frame_Shift_Ins	INS	-	-	G	rs35554312		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:27963294_27963295insG	ENST00000269033.3	-	14	2023_2024	c.1872_1873insC	c.(1870-1875)cctgtcfs	p.V625fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.V652fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	625					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAGGGGACATGGGGGGGTCTT	0.470													9	213	---	---	---	---					
ASIC2	40	broad.mit.edu	37	17	31439004	31439005	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:31439004_31439005insC	ENST00000225823.2	-	2	1661_1662	c.789_790insG	c.(787-792)ggcaggfs	p.R264fs	RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000359872.6_Frame_Shift_Ins_p.R213fs	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	213					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CCGTTGCCTGTCCCCCCCTTGA	0.550													8	157	---	---	---	---					
STAT5B	6777	broad.mit.edu	37	17	40370235	40370236	+	Frame_Shift_Ins	INS	-	-	G	rs144993426		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:40370235_40370236insG	ENST00000293328.3	-	9	1270_1271	c.1102_1103insC	c.(1102-1104)ggtfs	p.G368fs		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	368					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GGCCTTCACCTGGGGGGGGTTC	0.574													11	98	---	---	---	---					
ETV4	2118	broad.mit.edu	37	17	41610700	41610701	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:41610700_41610701insG	ENST00000319349.5	-	7	697_698	c.399_400insC	c.(397-402)ccgacafs	p.T134fs	ETV4_ENST00000393664.2_Frame_Shift_Ins_p.T134fs|ETV4_ENST00000545089.1_Intron|ETV4_ENST00000591713.1_Frame_Shift_Ins_p.T134fs|ETV4_ENST00000545954.1_Frame_Shift_Ins_p.T95fs|ETV4_ENST00000538265.1_Frame_Shift_Ins_p.T95fs	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"""								12	138	---	---	---	---					
PLCD3	113026	broad.mit.edu	37	17	43195683	43195684	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:43195683_43195684insC	ENST00000322765.5	-	6	1202_1203	c.1089_1090insG	c.(1087-1092)ggccagfs	p.Q364fs	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	364	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	GTGCTGCTGGGCCCCCCGATCT	0.599													7	240	---	---	---	---					
MTMR4	9110	broad.mit.edu	37	17	56590245	56590246	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													8	274	---	---	---	---					
MAP3K3	4215	broad.mit.edu	37	17	61744386	61744387	+	Frame_Shift_Ins	INS	-	-	C	rs144320687		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:61744386_61744387insC	ENST00000361357.3	+	7	879_880	c.561_562insC	c.(559-564)caccccfs	p.HP187fs	MAP3K3_ENST00000579585.1_Frame_Shift_Ins_p.HP187fs|MAP3K3_ENST00000361733.3_Frame_Shift_Ins_p.HP156fs|MAP3K3_ENST00000577395.1_Frame_Shift_Ins_p.HP156fs|MAP3K3_ENST00000584573.1_Frame_Shift_Ins_p.HP187fs	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	156					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTATCTACCAGCCCCCCGAGCC	0.490													9	401	---	---	---	---					
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													17	667	---	---	---	---					
GALR2	8811	broad.mit.edu	37	17	74073448	74073457	+	Frame_Shift_Del	DEL	GTCCTGGCCC	GTCCTGGCCC	-	rs67693166		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:74073448_74073457delGTCCTGGCCC	ENST00000329003.3	+	2	1190_1199	c.1100_1109delGTCCTGGCCC	c.(1099-1110)tgfs	p.CPGP367fs		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	367					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CTCGAGCCCTGTCCTGGCCCGTCCTGGCAG	0.657													7	6	---	---	---	---					
C3	718	broad.mit.edu	37	19	6697480	6697481	+	Frame_Shift_Ins	INS	-	-	G	rs137956083		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													10	216	---	---	---	---					
CD209	30835	broad.mit.edu	37	19	7807934	7807935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:7807934_7807935insG	ENST00000315599.7	-	7	1227_1228	c.1205_1206insC	c.(1204-1206)cccfs	p.P402fs	CD209_ENST00000593660.1_Frame_Shift_Ins_p.P332fs|CD209_ENST00000593821.1_Frame_Shift_Ins_p.P266fs|CD209_ENST00000394173.4_Frame_Shift_Ins_p.P241fs|CD209_ENST00000204801.8_Frame_Shift_Ins_p.P358fs|CD209_ENST00000394161.5_Frame_Shift_Ins_p.P166fs|CD209_ENST00000301357.8_Frame_Shift_Ins_p.P266fs|CD209_ENST00000315591.8_Frame_Shift_Ins_p.P378fs|CD209_ENST00000601951.1_Frame_Shift_Ins_p.P378fs|CD209_ENST00000602261.1_Frame_Shift_Ins_p.P310fs|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													8	758	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9049102	9049103	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:9049102_9049103insA	ENST00000397910.4	-	5	32731_32732	c.32528_32529insT	c.(32527-32529)tcafs	p.S10843fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10845	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTTACTATGGAAAAAAATGGA	0.490													9	816	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													12	362	---	---	---	---					
CIB3	117286	broad.mit.edu	37	19	16275654	16275655	+	Frame_Shift_Ins	INS	-	-	T	rs6512087	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:16275654_16275655insT	ENST00000269878.4	-	5	465_466	c.416_417insA	c.(415-417)gctfs	p.A139fs	CIB3_ENST00000541493.1_5'UTR|CIB3_ENST00000379859.3_Frame_Shift_Ins_p.A90fs	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													7	199	---	---	---	---					
MPV17L2	84769	broad.mit.edu	37	19	18305818	18305819	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:18305818_18305819insC	ENST00000599612.2	+	4	586_587	c.486_487insC	c.(484-489)gtccccfs	p.VP162fs	MPV17L2_ENST00000534474.2_Frame_Shift_Ins_p.P137fs	NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	162						integral to membrane				large_intestine(1)|lung(2)|urinary_tract(1)	4						TCCTCTTCGTGCCCCCCCAATT	0.653													7	114	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:31769141_31769142insC	ENST00000240587.4	-	2	1884_1885	c.1557_1558insG	c.(1555-1560)ggttgafs	p.*520fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	520					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGATATCAAGCCCCCCCTTGG	0.500													17	647	---	---	---	---					
CCDC97	90324	broad.mit.edu	37	19	41825517	41825518	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													8	782	---	---	---	---					
CEACAM5	1048	broad.mit.edu	37	19	42224865	42224866	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:42224865_42224866insC	ENST00000221992.6	+	8	1909_1910	c.1795_1796insC	c.(1795-1797)cccfs	p.P599fs	CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.P598fs|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.P599fs	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	599	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCCATCATTTCCCCCCCAGAC	0.545													11	335	---	---	---	---					
POU2F2	5452	broad.mit.edu	37	19	42621520	42621521	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:42621520_42621521insG	ENST00000560398.1	-	5	257_258	c.250_251insC	c.(250-252)gatfs	p.D84fs	POU2F2_ENST00000533720.1_Splice_Site|POU2F2_ENST00000529952.1_Splice_Site|POU2F2_ENST00000526816.2_Splice_Site|POU2F2_ENST00000389341.5_Splice_Site|POU2F2_ENST00000342301.4_Splice_Site|POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000524801.2_Splice_Site|POU2F2_ENST00000560558.1_Intron			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	62					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				AGCCTTGATCTGGGGGGGAGAG	0.634													14	279	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													26	710	---	---	---	---					
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:48737669_48737670insC	ENST00000391898.3	-	3	382_383	c.340_341insG	c.(340-342)catfs	p.H114fs	CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	0					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436													13	327	---	---	---	---					
PLEKHA4	57664	broad.mit.edu	37	19	49362155	49362156	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:49362155_49362156insG	ENST00000263265.6	-	8	1488_1489	c.933_934insC	c.(931-936)ccggagfs	p.E312fs	PLEKHA4_ENST00000596713.1_5'UTR|PLEKHA4_ENST00000355496.5_Frame_Shift_Ins_p.E312fs	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	312	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			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)		TGGGGACTCCTGGGGGGCTTTC	0.653													7	254	---	---	---	---					
BAX	581	broad.mit.edu	37	19	49464240	49464241	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:49464240_49464241insC	ENST00000293288.8	+	5	543_544	c.543_544insC	c.(541-546)ctccccfs	p.LP181fs	BAX_ENST00000415969.2_Intron|BAX_ENST00000391871.3_Intron|BAX_ENST00000354470.3_Intron|BAX_ENST00000345358.7_Intron|BAX_ENST00000539787.1_Intron	NM_004324.3	NP_004315.1	Q07812	BAX_HUMAN	BCL2-associated X protein	0					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		caccgtccctgcccccCGCCAC	0.634													9	238	---	---	---	---					
SNRNP70	6625	broad.mit.edu	37	19	49589711	49589712	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:49589711_49589712insC	ENST00000221448.5	+	2	236_237	c.40_41insC	c.(40-42)cccfs	p.P14fs	SNRNP70_ENST00000598441.1_Frame_Shift_Ins_p.P14fs	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	14					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	p.R16fs*2(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						GGCCCTCTTTGCCCCCCGTGAC	0.540													7	393	---	---	---	---					
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													25	445	---	---	---	---					
TSKS	60385	broad.mit.edu	37	19	50243087	50243088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													8	495	---	---	---	---					
NAPSA	9476	broad.mit.edu	37	19	50862305	50862306	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													16	360	---	---	---	---					
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													7	216	---	---	---	---					
CNOT3	4849	broad.mit.edu	37	19	54649666	54649667	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:54649666_54649667insC	ENST00000406403.1	+	8	2327_2328	c.724_725insC	c.(724-726)cccfs	p.P242fs	CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.P61fs|CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.P242fs			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													7	93	---	---	---	---					
KIR2DL4	3805	broad.mit.edu	37	19	55324675	55324675	+	Frame_Shift_Del	DEL	A	A	-	rs148484482		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:55324675delA	ENST00000396284.2	+	6	796	c.796delA	c.(796-798)aafs	p.K268fs	KIR2DL4_ENST00000396293.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000359085.4_Frame_Shift_Del_p.K270fs|KIR2DL4_ENST00000357494.4_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000345540.5_Intron					killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4									p.M271fs*>3(1)		NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CTGGTGCTCCAAAAAAAAAGT	0.532													10	529	---	---	---	---					
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr20:333922_333923insC	ENST00000382291.3	+	4	498_499	c.258_259insC	c.(256-261)gtccccfs	p.VP86fs	NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	86						integral to membrane|plasma membrane|transport vesicle				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GCTATGCAGTGCCCCCCAAGCT	0.644													8	366	---	---	---	---					
FASTKD5	60493	broad.mit.edu	37	20	3128000	3128001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr20:3128000_3128001insC	ENST00000380266.3	-	2	2037_2038	c.1716_1717insG	c.(1714-1719)ggcccafs	p.GP572fs	UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	572					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ACGTACTGGGGCCCCCCCAGCA	0.436													11	156	---	---	---	---					
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													11	187	---	---	---	---					
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)ccaaagfs	p.PK775fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	775					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGGAGGCTTTTGGGGGGGCTGG	0.545													27	545	---	---	---	---					
ATP9A	10079	broad.mit.edu	37	20	50305661	50305662	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr20:50305661_50305662insG	ENST00000338821.5	-	9	1004_1005	c.740_741insC	c.(739-741)catfs	p.H247fs	ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	247					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			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCTCGCTGATCGGGGGGTCGCT	0.564													8	296	---	---	---	---					
ZFP64	55734	broad.mit.edu	37	20	50769075	50769076	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr20:50769075_50769076insG	ENST00000216923.4	-	6	2004_2005	c.1655_1656insC	c.(1654-1656)ccafs	p.P552fs	ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCGAGGACTGAGGGGGGGCGAT	0.673													8	62	---	---	---	---					
OSBPL2	9885	broad.mit.edu	37	20	60854257	60854258	+	Frame_Shift_Ins	INS	-	-	C	rs79735057		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr20:60854257_60854258insC	ENST00000313733.3	+	7	738_739	c.536_537insC	c.(535-537)cccfs	p.P179fs	OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.P167fs|OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.P87fs	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													15	141	---	---	---	---					
DOPEY2	9980	broad.mit.edu	37	21	37597905	37597906	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr21:37597905_37597906insC	ENST00000399151.3	+	12	1498_1499	c.1413_1414insC	c.(1411-1416)ccccccfs	p.PP471fs		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	471					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCGTCAGCCCTCCCCCCACGGT	0.540													8	581	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													8	394	---	---	---	---					
TRAPPC10	7109	broad.mit.edu	37	21	45472274	45472275	+	Frame_Shift_Ins	INS	-	-	A	rs149217788	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr21:45472274_45472275insA	ENST00000291574.4	+	4	574_575	c.399_400insA	c.(397-402)aaaaaafs	p.KK133fs	TRAPPC10_ENST00000380221.3_Frame_Shift_Ins_p.KK133fs	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	133					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	p.K133N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						ATGATGCCAAGAAAAAAAACAA	0.356													7	484	---	---	---	---					
MCM3AP	8888	broad.mit.edu	37	21	47663396	47663397	+	Frame_Shift_Ins	INS	-	-	G	rs34589822	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr21:47663396_47663397insG	ENST00000397708.1	-	25	5532_5533	c.5278_5279insC	c.(5278-5280)gctfs	p.A1760fs	MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.A1760fs|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1760					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)					AACAGGAAGCCGGGGGGGCGTC	0.525													19	312	---	---	---	---					
CECR1	51816	broad.mit.edu	37	22	17662759	17662760	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr22:17662759_17662760insC	ENST00000399839.1	-	9	1662_1663	c.1392_1393insG	c.(1390-1395)ggtgaafs	p.E465fs	CECR1_ENST00000330232.4_Frame_Shift_Ins_p.E224fs|CECR1_ENST00000449907.2_Frame_Shift_Ins_p.E423fs|CECR1_ENST00000399837.2_Frame_Shift_Ins_p.E465fs|CECR1_ENST00000262607.3_Frame_Shift_Ins_p.E465fs			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	465					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TCAGCCTTCATCCCCCCAATGC	0.564													9	396	---	---	---	---					
SERPIND1	3053	broad.mit.edu	37	22	21138419	21138420	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr22:21138419_21138420insG	ENST00000215727.5	+	3	1332_1333	c.1049_1050insG	c.(1048-1050)gggfs	p.G350fs	SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.G350fs|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_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)	10	537	---	---	---	---					
CRYBB1	1414	broad.mit.edu	37	22	26995459	26995460	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													7	338	---	---	---	---					
DDX17	10521	broad.mit.edu	37	22	38895454	38895455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr22:38895454_38895455insC	ENST00000396821.3	-	3	587_588	c.488_489insG	c.(487-489)ggafs	p.G163fs	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	84	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCAC	0.381													8	202	---	---	---	---					
TNRC6B	23112	broad.mit.edu	37	22	40681766	40681767	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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_ENST00000335727.8_Frame_Shift_Ins_p.P1124fs|TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.P430fs	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													12	355	---	---	---	---					
EP300	2033	broad.mit.edu	37	22	41574678	41574679	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr22:41574678_41574679insC	ENST00000263253.7	+	31	8182_8183	c.6963_6964insC	c.(6961-6966)caccccfs	p.HP2321fs	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2321					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CACAGTCCCAGCCCCCCCACTC	0.609			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				7	86	---	---	---	---					
SREBF2	6721	broad.mit.edu	37	22	42271636	42271637	+	Frame_Shift_Ins	INS	-	-	C	rs79727196		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													12	219	---	---	---	---					
ARSA	410	broad.mit.edu	37	22	51065756	51065757	+	Frame_Shift_Ins	INS	-	-	C	rs74315455		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr22:51065756_51065757insC	ENST00000547307.1	-	2	701_702	c.296_297insG	c.(295-297)gctfs	p.A99fs	ARSA_ENST00000453344.2_Frame_Shift_Ins_p.A15fs|ARSA_ENST00000216124.5_Frame_Shift_Ins_p.A101fs|ARSA_ENST00000356098.5_Frame_Shift_Ins_p.A101fs|ARSA_ENST00000395621.3_Frame_Shift_Ins_p.A101fs|ARSA_ENST00000547805.1_Frame_Shift_Ins_p.A99fs|ARSA_ENST00000395619.3_Frame_Shift_Ins_p.A101fs			P15289	ARSA_HUMAN	arylsulfatase A	99			G -> D (in MLD; adult type).|G -> V (in MLD; late-infantile form).			lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	CCAGGGGCAGGCCCCCCCGGGA	0.718													2	4	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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													8	707	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs|SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs	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													7	358	---	---	---	---					
TIMM17B	10245	broad.mit.edu	37	X	48751486	48751487	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chrX:48751486_48751487insC	ENST00000396779.3	-	6	510_511	c.362_363insG	c.(361-363)gctfs	p.A121fs	TIMM17B_ENST00000466995.1_5'UTR|TIMM17B_ENST00000376582.3_Frame_Shift_Ins_p.A71fs	NM_001167947.1	NP_001161419.1	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17 homolog B (yeast)	71					protein targeting to mitochondrion	integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						TGGAGAACAGGCCCCCCCACAC	0.574													3	5	---	---	---	---					
TFE3	7030	broad.mit.edu	37	X	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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"""								17	190	---	---	---	---					
MAP7D1	55700	broad.mit.edu	37	1	36636586	36636587	+	Frame_Shift_Ins	INS	-	-	C	rs145462639		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr1:36636586_36636587insC	ENST00000316156.4	+	2	514_515	c.61_62insC	c.(61-63)cccfs	p.P21fs	MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.P21fs|MAP7D1_ENST00000373151.2_Frame_Shift_Ins_p.P21fs			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	21	Pro-rich.					cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GGTCGCCAGGACCCCCCCAGAG	0.614													8	295	---	---	---	---					
LURAP1	541468	broad.mit.edu	37	1	46685795	46685802	+	Frame_Shift_Del	DEL	GTGGACCA	GTGGACCA	-			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr1:46685795_46685802delGTGGACCA	ENST00000371980.3	+	2	716_723	c.623_630delGTGGACCA	c.(622-630)gfs	p.GGP208fs	POMGNT1_ENST00000396420.3_5'UTR|POMGNT1_ENST00000371992.1_5'UTR	NM_001013615.2	NP_001013633.1	Q96LR2	CA190_HUMAN	leucine rich adaptor protein 1	208					positive regulation of cytokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm											AGGCTTCAAGGTGGACCACCTGAGTCAC	0.587													25	85	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152325835	152325848	+	Frame_Shift_Del	DEL	GTGGTATCTCCTGT	GTGGTATCTCCTGT	-			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr1:152325835_152325848delGTGGTATCTCCTGT	ENST00000388718.5	-	3	4486_4499	c.4414_4427delACAGGAGATACCAC	c.(4414-4428)tfs	p.TGDTT1472fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1472							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)			GGCATGTCTAGTGGTATCTCCTGTCTGTCCATGA	0.500													35	632	---	---	---	---					
CD1C	911	broad.mit.edu	37	1	158262099	158262100	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr1:158262099_158262100insC	ENST00000368170.3	+	3	833_834	c.554_555insC	c.(553-555)tccfs	p.S185fs		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	185					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AGAAGCACTTGCCCCCGATTTC	0.450													9	1699	---	---	---	---					
PSME4	23198	broad.mit.edu	37	2	54096596	54096596	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr2:54096596delT	ENST00000404125.1	-	44	5235	c.5180delA	c.(5179-5181)ctfs	p.H1727fs	PSME4_ENST00000421748.2_Frame_Shift_Del_p.H871fs|PSME4_ENST00000476586.1_5'UTR	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1727					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTGCTCAAAATGAATCTGCAT	0.408													22	306	---	---	---	---					
LOC101928553	101928553	broad.mit.edu	37	2	149629672	149629673	+	RNA	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr2:149629672_149629673insC	ENST00000601658.1	-	0	676																											CTCTGGCCCTGCCCCCCCCCAA	0.441													6	6	---	---	---	---					
PLRG1	5356	broad.mit.edu	37	4	155461206	155461207	+	Splice_Site	INS	-	-	AGA			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr4:155461206_155461207insAGA	ENST00000499023.2	-	11	1066		c.e11-1		PLRG1_ENST00000393905.2_Splice_Site|PLRG1_ENST00000302078.5_Splice_Site	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1							catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CATCCCAAATCTATAAAAACAC	0.342													43	125	---	---	---	---					
ZNF366	167465	broad.mit.edu	37	5	71739905	71739906	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr5:71739905_71739906insG	ENST00000318442.5	-	5	2402_2403	c.1912_1913insC	c.(1912-1914)gagfs	p.E638fs		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	638					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CTGCTGGCTCTGGGGGGCCAGG	0.653													7	311	---	---	---	---					
SLC6A7	6534	broad.mit.edu	37	5	149580754	149580755	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr5:149580754_149580755insC	ENST00000230671.2	+	6	1197_1198	c.826_827insC	c.(826-828)cccfs	p.P276fs	SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.P276fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	276						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GTTCTATCTCACCCCCCAGTTC	0.634													8	497	---	---	---	---					
SLC6A7	6534	broad.mit.edu	37	5	149581960	149581961	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr5:149581960_149581961insG	ENST00000230671.2	+	7	1280_1281	c.909_910insG	c.(907-912)ttggggfs	p.LG303fs	SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.LG303fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	303						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GTGTGGGCTTCGGGGGGCTCCT	0.569													7	1174	---	---	---	---					
PTPN12	5782	broad.mit.edu	37	7	77256343	77256343	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr7:77256343delT	ENST00000248594.6	+	13	1619	c.1347delT	c.(1345-1347)agfs	p.S449fs	PTPN12_ENST00000415482.2_Frame_Shift_Del_p.S330fs|PTPN12_ENST00000435495.2_Frame_Shift_Del_p.S319fs	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	449						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GACCAAAAAGTTTTGATGGGA	0.338													16	59	---	---	---	---					
C8orf37-AS1	100616530	broad.mit.edu	37	8	96415908	96415918	+	RNA	DEL	TTTTTTTTTTT	TTTTTTTTTTT	-	rs59279759		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr8:96415908_96415918delTTTTTTTTTTT	ENST00000521905.1	+	0	126																											aataaaAGACttttttttttttttttttttt	0.322													4	3	---	---	---	---					
PSD	5662	broad.mit.edu	37	10	104175780	104175781	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr10:104175780_104175781insG	ENST00000020673.5	-	3	1276_1277	c.750_751insC	c.(748-753)ccgctcfs	p.L251fs	PSD_ENST00000406432.1_Frame_Shift_Ins_p.L251fs	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	251					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			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)		TTACCTGAGCTGGGGGGGTCCA	0.604													2	4	---	---	---	---					
YIF1A	10897	broad.mit.edu	37	11	66055104	66055105	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	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													7	63	---	---	---	---					
COA4	51287	broad.mit.edu	37	11	73584444	73584447	+	Frame_Shift_Del	DEL	AGAA	AGAA	-			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr11:73584444_73584447delAGAA	ENST00000541455.1	-	2	397_400	c.4_7delTTCT	c.(4-9)atfs	p.FY2fs	COA4_ENST00000545127.1_Intron|COA4_ENST00000537289.1_Intron|COA4_ENST00000355693.4_Intron					cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)																		GGGAGTCTATAGAACATTAACAGG	0.471													32	89	---	---	---	---					
OVOS2	144203	broad.mit.edu	37	12	31269805	31269806	+	RNA	INS	-	-	AAG	rs67001718		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr12:31269805_31269806insAAG	ENST00000542490.1	-	0	52																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CAATATTCCTCAAACTTCTCTT	0.307													4	3	---	---	---	---					
KDM2B	84678	broad.mit.edu	37	12	121878782	121878783	+	Splice_Site	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr12:121878782_121878783insG	ENST00000377069.4	-	20	3648		c.e20-2		KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Splice_Site|KDM2B_ENST00000542973.1_Splice_Site	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B						embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	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|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CCCGGAGCCCTGGGGGGACATA	0.658													10	696	---	---	---	---					
CHD8	57680	broad.mit.edu	37	14	21862449	21862450	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr14:21862449_21862450insG	ENST00000399982.2	-	30	5649_5650	c.5585_5586insC	c.(5584-5586)cgcfs	p.R1862fs	CHD8_ENST00000430710.3_Frame_Shift_Ins_p.R1583fs|CHD8_ENST00000557364.1_Frame_Shift_Ins_p.R1862fs	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1862					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			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)		CTCCAGCTGCTGGGGGAAGGCG	0.500													7	326	---	---	---	---					
FAM161B	145483	broad.mit.edu	37	14	74413296	74413297	+	Frame_Shift_Ins	INS	-	-	G	rs113301882	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr14:74413296_74413297insG	ENST00000286544.3	-	2	453_454	c.255_256insC	c.(253-258)ccagtcfs	p.V86fs	FAM161B_ENST00000534936.1_Frame_Shift_Ins_p.V23fs	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						GCGAAGGACTCGGGGGGAAATA	0.465													7	561	---	---	---	---					
U91319.1	0	broad.mit.edu	37	16	13356515	13356516	+	RNA	INS	-	-	AGGAAGGGAGGG	rs71147794		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr16:13356515_13356516insAGGAAGGGAGGG	ENST00000571619.1	+	0	178																											ggaaggaaggaaggaaggaagg	0.465													2	4	---	---	---	---					
AP1M1	8907	broad.mit.edu	37	19	16314383	16314384	+	Frame_Shift_Ins	INS	-	-	G	rs146546344	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr19:16314383_16314384insG	ENST00000291439.3	+	2	605_606	c.156_157insG	c.(154-159)caggggfs	p.QG52fs	AP1M1_ENST00000444449.2_Frame_Shift_Ins_p.QG52fs|AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000429941.2_Frame_Shift_Ins_p.QG52fs|AP1M1_ENST00000590756.1_Intron	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	52					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						TCCTGGCCCACGGGGGGGTCCG	0.594													8	178	---	---	---	---					
CCDC97	90324	broad.mit.edu	37	19	41825517	41825518	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	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													8	782	---	---	---	---					
TSKS	60385	broad.mit.edu	37	19	50243087	50243088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	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													8	495	---	---	---	---