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
EPRS	2058	broad.mit.edu	37	1	220198598	220198598	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:220198598T>A	ENST00000366923.3	-	7	895	c.626A>T	c.(625-627)tAc>tTc	p.Y209F		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	209	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	AATGTGTAAGTAACTAAAACA	0.333000													3	34					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125072866	125072866	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:125072866C>T	ENST00000522917.1	+	24	3269	c.3063C>T	c.(3061-3063)tgC>tgT	p.C1021C	FER1L6_ENST00000399018.1_Silent_p.C1021C|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1021						integral to membrane		p.C1021C(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCATTGAGTGCGGAGGACAAG	0.547000													85	135					0	0	1	0	0
VPS53	55275	broad.mit.edu	37	17	456619	456619	+	Splice_Site	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:456619C>T	ENST00000437048.2	-	16	1934		c.e16+1		RP5-1029F21.2_ENST00000574008.1_RNA|VPS53_ENST00000446250.2_Splice_Site|VPS53_ENST00000576149.1_Splice_Site|VPS53_ENST00000401468.3_Splice_Site|VPS53_ENST00000291074.5_Splice_Site|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000571805.1_Splice_Site	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)						protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		AGGGTACATACGTGCTGAACG	0.493000													16	164					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132161721	132161721	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:132161721C>A	ENST00000511190.1	-	6	997	c.528G>T	c.(526-528)caG>caT	p.Q176H	USP26_ENST00000406273.1_Missense_Mutation_p.Q176H|USP26_ENST00000370832.1_Missense_Mutation_p.Q176H	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	176					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.Q176H(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCTTCTTGTGCTGATTTTCTG	0.383000													76	38					3.61922e-38	3.86162e-38	1	1	0
HKR1	284459	broad.mit.edu	37	19	37854260	37854260	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:37854260G>A	ENST00000591471.1	+	9	2385	c.744G>A	c.(742-744)ggG>ggA	p.G248G	HKR1_ENST00000589392.1_Silent_p.G503G|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000324411.4_Silent_p.G521G|HKR1_ENST00000544914.1_Silent_p.G248G|HKR1_ENST00000541583.2_Silent_p.G460G|HKR1_ENST00000392153.3_Silent_p.G502G			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	521					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACACTCAGGGGAGAAGCCAT	0.512000													5	150					0	0	1	0	0
WFDC8	90199	broad.mit.edu	37	20	44187563	44187563	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:44187563C>T	ENST00000357199.4	-	3	283	c.205G>A	c.(205-207)Gat>Aat	p.D69N	WFDC8_ENST00000289953.2_Missense_Mutation_p.D69N	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	69	WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				CAGTCAAAATCTGTGTTACAT	0.468000													6	514					0	0	1	0	0
DCDC2	51473	broad.mit.edu	37	6	24178707	24178707	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:24178707C>A	ENST00000378454.3	-	9	1478	c.1177G>T	c.(1177-1179)Gat>Tat	p.D393Y	DCDC2_ENST00000378450.3_Missense_Mutation_p.D146Y	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	393					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)				TCACTGTGATCCAGAATCTCC	0.512000													24	139					1.33986e-20	1.42631e-20	1	1	0
FMO1	2326	broad.mit.edu	37	1	171251249	171251249	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:171251249G>A	ENST00000354841.4	+	6	1091	c.960G>A	c.(958-960)gaG>gaA	p.E320E	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Silent_p.E257E|FMO1_ENST00000367750.3_Silent_p.E320E			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	320					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)					CAAAGGAAGAGCCTATTGACA	0.433000													4	385					0	0	1	0	0
PNMAL1	55228	broad.mit.edu	37	19	46973225	46973225	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:46973225C>T	ENST00000313683.10	-	2	1373	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Silent_p.K356K	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	356										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GAGCGGGGTTCTTGGCAGACA	0.587000													7	753					0	0	1	0	0
ALG10B	144245	broad.mit.edu	37	12	38714227	38714227	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:38714227G>A	ENST00000308742.4	+	3	950	c.634G>A	c.(634-636)Gag>Aag	p.E212K	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	212					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	p.E212Q(1)		breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTGGAAAACTGAGCTACAAAA	0.388000													9	219					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81675169	81675169	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:81675169C>T	ENST00000550584.2	-	26	3374	c.3079G>A	c.(3079-3081)Gaa>Aaa	p.E1027K	RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E1012K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E1021K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E1012K|PPFIA2_ENST00000541570.2_Missense_Mutation_p.E563K|PPFIA2_ENST00000541017.1_Missense_Mutation_p.E213K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E922K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E926K|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E1027K|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E1006K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E874K	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	926								p.E1027K(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GGAAGCCATTCATTTCCAATC	0.393000													52	86					0	0	1	0	0
SSFA2	6744	broad.mit.edu	37	2	182766972	182766972	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:182766972G>C	ENST00000431877.2	+	8	1371	c.1192G>C	c.(1192-1194)Gaa>Caa	p.E398Q	SSFA2_ENST00000320370.7_Missense_Mutation_p.E398Q|SSFA2_ENST00000409001.1_Missense_Mutation_p.E398Q|SSFA2_ENST00000428267.2_Missense_Mutation_p.E245Q	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	398						cytoplasm|plasma membrane	actin binding	p.E398Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ACAAAGTAAAGAAACTCAAAG	0.363000													24	71					0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56178361	56178361	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:56178361G>A	ENST00000399503.3	+	14	3334	c.3334G>A	c.(3334-3336)Gtg>Atg	p.V1112M		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1112					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TGACGAGACAGTGTTCACCCC	0.423000													23	229					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236759191	236759191	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:236759191C>T	ENST00000366582.3	-	7	1012	c.898G>A	c.(898-900)Ggg>Agg	p.G300R	HEATR1_ENST00000366581.2_Missense_Mutation_p.G300R|HEATR1_ENST00000483073.1_5'UTR	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	300					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CAACTTAACCCATCCTTGATC	0.408000													4	195					0	0	1	0	0
BAG6	7917	broad.mit.edu	37	6	31612931	31612931	+	Silent	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:31612931C>G	ENST00000404765.2	-	10	1450	c.1161G>C	c.(1159-1161)cgG>cgC	p.R387R	BAG6_ENST00000362049.6_Silent_p.R387R|BAG6_ENST00000211379.5_Silent_p.R387R|BAG6_ENST00000375964.6_Silent_p.R393R|BAG6_ENST00000439687.2_Silent_p.R387R|BAG6_ENST00000375976.4_Silent_p.R387R			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	393	4 X 29 AA approximate repeats.				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						TTGGGGGGGGCCGAGTCCCAT	0.557000													5	190					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77655603	77655603	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr13:77655603G>A	ENST00000407578.2	-	65	11643	c.11377C>T	c.(11377-11379)Cgc>Tgc	p.R3793C	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.R3755C|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3755C	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3755	DOC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GACACATAGCGGGCATTGATT	0.413000													4	440					0	0	1	0	0
OR4D1	26689	broad.mit.edu	37	17	56232613	56232613	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:56232613A>T	ENST00000268912.5	+	1	120	c.99A>T	c.(97-99)ttA>ttT	p.L33F		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TGTTCCTGTTAGTCTATGTTA	0.458000													8	442					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105421827	105421827	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:105421827C>T	ENST00000333244.5	-	5	578	c.459G>A	c.(457-459)ttG>ttA	p.L153L		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	153	PDZ.					nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACCTTCTCTCAAGTTAAAAA	0.582000													8	31					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107315388	107315388	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:107315388A>T	ENST00000265715.3	+	6	824		c.e6-1			NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4						regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCCTTATCGTAGTTGATATTT	0.398000									Pendred syndrome				6	311					0	0	1	0	0
ZNF511	118472	broad.mit.edu	37	10	135123728	135123728	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:135123728C>T	ENST00000359035.3	+	4	493	c.490C>T	c.(490-492)Cac>Tac	p.H164Y	ZNF511_ENST00000368554.4_Missense_Mutation_p.H99Y|ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000361518.5_Missense_Mutation_p.H164Y			Q8NB15	ZN511_HUMAN	zinc finger protein 511	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		CCGGAAGGATCACATGGTGAG	0.552000													34	31					0	0	1	0	0
ARMC8	25852	broad.mit.edu	37	3	137960814	137960814	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:137960814G>A	ENST00000469044.1	+	11	1298	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N	ARMC8_ENST00000471453.1_Missense_Mutation_p.D329N|ARMC8_ENST00000470821.1_Missense_Mutation_p.D343N|ARMC8_ENST00000489213.1_Missense_Mutation_p.D301N|ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000491704.1_Missense_Mutation_p.D301N|ARMC8_ENST00000358441.2_Missense_Mutation_p.D329N|ARMC8_ENST00000485396.1_Missense_Mutation_p.D270N|ARMC8_ENST00000481646.1_Missense_Mutation_p.D329N|ARMC8_ENST00000393058.3_Missense_Mutation_p.D333N|ARMC8_ENST00000538260.1_Missense_Mutation_p.D312N	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	343							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TGCCATCACTGATATTAAAAG	0.373000													139	174					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183495729	183495729	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:183495729A>T	ENST00000367537.3	+	6	594		c.e6-1		SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000347615.2_Splice_Site|SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000456731.2_Splice_Site			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor						mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TTTTTCTTTTAGTTATTACAA	0.333000													16	129					0	0	1	0	0
EAPP	55837	broad.mit.edu	37	14	34994015	34994015	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:34994015T>A	ENST00000250454.3	-	5	552		c.e5-2			NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein						negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		CCATGGTAACTAGAACAGAAG	0.403000													5	216					0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106880627	106880627	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:106880627T>A	ENST00000286398.7	+	15	2255	c.1967T>A	c.(1966-1968)gTg>gAg	p.V656E	SMC2_ENST00000374793.3_Missense_Mutation_p.V656E|SMC2_ENST00000374787.3_Missense_Mutation_p.V656E|SMC2_ENST00000303219.8_Missense_Mutation_p.V656E	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	656	Flexible hinge.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GGAGGTGATGTGTTTGATCCT	0.363000													11	97					0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220752837	220752837	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:220752837A>G	ENST00000366918.4	+	2	790	c.193A>G	c.(193-195)Aca>Gca	p.T65A	MARK1_ENST00000402574.1_5'UTR|MARK1_ENST00000472121.1_3'UTR|MARK1_ENST00000366917.4_Missense_Mutation_p.T65A			Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	65	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.T65A(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TTTACAAAAAACAATAGGGAA	0.428000													45	82					0	0	1	0	0
ANKRD30BP3	338579	broad.mit.edu	37	10	45652235	45652235	+	RNA	SNP	C	C	G	rs149362183		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:45652235C>G	ENST00000427229.2	+	0	1749																											GAAGGAACATCTGAAGGAACA	0.478000													8	29					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240795	39240795	+	Missense_Mutation	SNP	A	A	T	rs9894966	by1000genomes	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:39240795A>T	ENST00000391417.4	+	1	337	c.337A>T	c.(337-339)Agc>Tgc	p.S113C		NM_033061.3	NP_149050.3			keratin associated protein 4-7									p.R111_C115delRPSCC(1)|p.S113C(1)|p.?(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						ctgccgccccagctgctgccg	0.667000													5	4					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112458444	112458444	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:112458444C>T	ENST00000302475.4	-	4	957	c.394G>A	c.(394-396)Gac>Aac	p.D132N	MCC_ENST00000515367.2_Missense_Mutation_p.D69N|MCC_ENST00000408903.3_Missense_Mutation_p.D322N|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	132					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TGGTCTTGGTCCATGCTTCGA	0.522000													7	153					0	0	1	0	0
CLC	1178	broad.mit.edu	37	19	40225125	40225125	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:40225125G>A	ENST00000221804.4	-	3	176	c.101C>T	c.(100-102)cCa>cTa	p.P34L		NM_001828.5	NP_001819.2	Q05315	LPPL_HUMAN	Charcot-Leyden crystal galectin	34	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		CTGCAGATATGGTTCATTCCT	0.512000													7	645					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54299115	54299115	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:54299115G>A	ENST00000324134.6	-	9	3264	c.3096C>T	c.(3094-3096)ctC>ctT	p.L1032L	NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000535162.1_Intron|NLRP12_ENST00000391773.1_Silent_p.L1033L|NLRP12_ENST00000391775.3_Silent_p.L975L|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000351894.4_Silent_p.L920L|NLRP12_ENST00000345770.5_Intron	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	1032					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCCTCACCAGAGGACTCGGA	0.552000													5	76					0	0	1	0	0
ZNF876P	642280	broad.mit.edu	37	4	206531	206531	+	RNA	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:206531C>G	ENST00000356347.3	+	0	133					NR_027481.1																						TTGGATGATTCGTAGCTAAGA	0.632000													4	52					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95860093	95860093	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr13:95860093C>T	ENST00000376887.4	-	7	986	c.872G>A	c.(871-873)tGg>tAg	p.W291*	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Nonsense_Mutation_p.W216*|ABCC4_ENST00000412704.1_Nonsense_Mutation_p.W291*|ABCC4_ENST00000431522.1_Nonsense_Mutation_p.W291*	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	291	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TGACTTTTCCCAGGCGTACAT	0.328000													4	31					0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67345004	67345004	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr18:67345004C>T	ENST00000382713.5	+	4	514	c.324C>T	c.(322-324)tgC>tgT	p.C108C	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	108	PH.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				AGCACCTCTGCATGGAGTGTC	0.537000													20	187					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52725484	52725484	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:52725484T>A	ENST00000399231.3	-	2	271		c.e2-2		MYO5A_ENST00000553916.1_Splice_Site|MYO5A_ENST00000358212.6_Splice_Site|MYO5A_ENST00000356338.6_Splice_Site|MYO5A_ENST00000399233.2_Splice_Site	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)						actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CCTGGCAAACTAGAAGACAAA	0.318000													4	147					0	0	1	0	0
CCDC18	343099	broad.mit.edu	37	1	93649533	93649533	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:93649533A>T	ENST00000343253.7	+	3	636		c.e3-1		CCDC18_ENST00000334652.5_Splice_Site|CCDC18_ENST00000338949.4_Splice_Site|CCDC18_ENST00000401026.3_Splice_Site|CCDC18_ENST00000557479.1_Splice_Site			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18											breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TTTTTTCTCTAGTGTTAGTCC	0.328000													4	170					0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202626521	202626521	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:202626521C>T	ENST00000264276.6	-	4	568	c.196G>A	c.(196-198)Ggg>Agg	p.G66R	ALS2_ENST00000467448.1_Missense_Mutation_p.G66R|ALS2_ENST00000496244.1_5'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	66					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GGAAGAGTCCCAAAGCTGTAG	0.388000													5	146					0	0	1	0	0
TCEANC2	127428	broad.mit.edu	37	1	54562078	54562078	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:54562078G>A	ENST00000234827.1	+	5	759	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	TCEANC2_ENST00000371331.1_Missense_Mutation_p.E217K|TCEANC2_ENST00000498272.1_3'UTR	NM_153035.1	NP_694580.1	Q96MN5	TEAN2_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing 2	187	TFIIS central.				transcription, DNA-dependent	nucleus	DNA binding	p.E187K(1)		kidney(1)|lung(3)|pancreas(1)	5						GCACCGAGCTGAAATCCGGGC	0.572000													22	59					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109794216	109794216	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:109794216C>T	ENST00000271332.3	+	1	1576	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	505	Cadherin 3.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCCCCATCTTCGTCAGCACCC	0.572000													4	115					0	0	1	0	0
PITRM1	10531	broad.mit.edu	37	10	3197825	3197825	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:3197825C>T	ENST00000380989.2	-	14	1617	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	PITRM1_ENST00000224949.4_Missense_Mutation_p.E527K|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.E495K|PITRM1_ENST00000380994.1_Missense_Mutation_p.E85K	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	495					proteolysis		metalloendopeptidase activity|zinc ion binding	p.E527K(1)		breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GACAGAGCCTCGACCTTCTGC	0.557000													89	52					0	0	1	0	0
ILVBL	10994	broad.mit.edu	37	19	15230241	15230241	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:15230241G>A	ENST00000263383.3	-	8	1041	c.902C>T	c.(901-903)gCc>gTc	p.A301V	ILVBL_ENST00000534378.1_Missense_Mutation_p.A194V|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	301						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						AAGCTTGTCGGCAGACGTTGG	0.662000													3	47					0	0	1	0	0
SECISBP2	79048	broad.mit.edu	37	9	91965577	91965577	+	Silent	SNP	G	G	A	rs41288139	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:91965577G>A	ENST00000375807.3	+	14	1994	c.1923G>A	c.(1921-1923)gtG>gtA	p.V641V	SECISBP2_ENST00000534113.2_Silent_p.V573V|SECISBP2_ENST00000339901.4_Silent_p.V568V	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	641					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						GTAAAGAAGTGGATGCTTGTG	0.483000													6	498					0	0	1	0	0
RARA	5914	broad.mit.edu	37	17	38506145	38506145	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:38506145A>G	ENST00000254066.5	+	4	892	c.437A>G	c.(436-438)cAg>cGg	p.Q146R	RARA_ENST00000425707.3_Intron|RARA_ENST00000394089.2_Missense_Mutation_p.Q146R|RARA_ENST00000394086.3_Missense_Mutation_p.Q162R|RARA_ENST00000394081.3_Missense_Mutation_p.Q141R	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	146					apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.Q146R(1)		breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TGCCGACTGCAGAAGTGCTTT	0.577000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL								55	9					0	0	1	0	0
IGSF5	150084	broad.mit.edu	37	21	41142841	41142841	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:41142841A>T	ENST00000380588.4	+	4	521		c.e4-1		IGSF5_ENST00000479378.1_Splice_Site	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5							integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TTTCTTCTTTAGTTATGGGAG	0.388000													6	196					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102305084	102305084	+	RNA	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:102305084T>C	ENST00000561463.1	+	0	13130																											GACATCAACATGAACACCATC	0.632000													4	28					0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55074670	55074670	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:55074670A>G	ENST00000343744.2	+	16	1752	c.1670A>G	c.(1669-1671)tAt>tGt	p.Y557C	ACOT11_ENST00000371316.3_Intron|ACOT11_ENST00000481208.1_3'UTR	NM_147161.3	NP_671517.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	0	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GTTCTCAACTATGTGACCACC	0.587000													4	412					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121415208	121415208	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:121415208C>T	ENST00000393667.3	-	13	4272	c.4162G>A	c.(4162-4164)Ggc>Agc	p.G1388S	GOLGB1_ENST00000340645.5_Missense_Mutation_p.G1383S	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1383					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGTTCTAGGCCAGCAATTTGT	0.423000													4	238					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55505722	55505722	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:55505722C>G	ENST00000543010.1	+	11	2937	c.2794C>G	c.(2794-2796)Ctg>Gtg	p.L932V	NLRP2_ENST00000538819.1_Missense_Mutation_p.L908V|NLRP2_ENST00000448584.2_Missense_Mutation_p.L932V|NLRP2_ENST00000427260.2_Missense_Mutation_p.L909V|NLRP2_ENST00000391721.4_Missense_Mutation_p.L908V|NLRP2_ENST00000339757.7_Missense_Mutation_p.L910V|NLRP2_ENST00000263437.6_Missense_Mutation_p.L929V|NLRP2_ENST00000537859.1_Missense_Mutation_p.L910V	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	932					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTGTTTGGATCTGGGGCTGAA	0.448000													4	374					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121187276	121187276	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:121187276G>A	ENST00000264233.5	-	23	6849	c.6721C>T	c.(6721-6723)Cga>Tga	p.R2241*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2241					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	p.R2376*(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAGGTTATTCGTCCTAAAATC	0.333000								DNA polymerases (catalytic subunits)					80	27					0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	60004006	60004006	+	Silent	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:60004006T>G	ENST00000444766.3	-	2	99	c.24A>C	c.(22-24)atA>atC	p.I8I	INTS2_ENST00000251334.6_5'UTR	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	8					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	p.I8I(1)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						ATTCAGTCATTATTACTGTTT	0.358000													37	6					0	0	1	0	0
CCHCR1	54535	broad.mit.edu	37	6	31111166	31111166	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:31111166C>A	ENST00000396268.3	-	16	2380	c.2192G>T	c.(2191-2193)cGc>cTc	p.R731L	CCHCR1_ENST00000376266.5_Missense_Mutation_p.R642L|CCHCR1_ENST00000451521.2_Missense_Mutation_p.R695L|CCHCR1_ENST00000396263.2_Missense_Mutation_p.R589L	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	642					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	p.R731L(1)|p.R642L(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GGCGGCTCTGCGCTGAATCTG	0.647000													26	21					3.57733e-08	3.70566e-08	1	1	0
SYNRG	11276	broad.mit.edu	37	17	35879057	35879057	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:35879057G>T	ENST00000339208.6	-	22	4071	c.3931C>A	c.(3931-3933)Cct>Act	p.P1311T	SYNRG_ENST00000591288.1_Missense_Mutation_p.P1105T|SYNRG_ENST00000585472.1_Missense_Mutation_p.P1232T|SYNRG_ENST00000502449.2_Missense_Mutation_p.P1176T|SYNRG_ENST00000394378.2_Missense_Mutation_p.P1256T|SYNRG_ENST00000346661.4_Missense_Mutation_p.P1299T|SYNRG_ENST00000345615.4_Missense_Mutation_p.P1221T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1311					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGCAGGTCAGGCAGGACGAGG	0.522000													14	327					1.05317e-09	1.09834e-09	1	1	0
HIST2H2BF	440689	broad.mit.edu	37	1	149783718	149783718	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:149783718C>T	ENST00000427880.2	-	1	207	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.G54D|HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.G54D|HIST2H2BF_ENST00000469483.1_5'UTR			Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	54					nucleosome assembly	nucleosome|nucleus	DNA binding	p.G54D(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					GGACGAGATGCCGGTGTCGGG	0.597000													6	813					0	0	1	0	0
LCN1	3933	broad.mit.edu	37	9	138413417	138413417	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:138413417A>G	ENST00000263598.2	+	1	134	c.74A>G	c.(73-75)gAc>gGc	p.D25G	LCN1_ENST00000371781.3_Missense_Mutation_p.D25G	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	25					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity	p.D25G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		CTGGCCTCAGACGAGGAGATT	0.662000													17	9					0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56527596	56527596	+	Missense_Mutation	SNP	G	G	A	rs112882931	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:56527596G>A	ENST00000394048.5	+	13	1676	c.1412G>A	c.(1411-1413)cGa>cAa	p.R471Q	ESYT1_ENST00000267113.4_Missense_Mutation_p.R471Q|ESYT1_ENST00000541590.1_Missense_Mutation_p.R471Q	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	471	C2 2.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GTCTCCTCTCGACCAGATCCC	0.552000													5	200					0	0	1	0	0
NFIL3	4783	broad.mit.edu	37	9	94172340	94172340	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:94172340T>C	ENST00000297689.3	-	2	1071	c.677A>G	c.(676-678)gAg>gGg	p.E226G		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	226					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TGTGTAGCTCTCTAATTCCAT	0.488000													7	502					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48511107	48511107	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:48511107A>T	ENST00000446524.1	+	1	839	c.763A>T	c.(763-765)Atg>Ttg	p.M255L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TTGTATTTTTATGTATGCTAG	0.428000													11	1082					0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110030243	110030243	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:110030243G>A	ENST00000369870.3	+	5	532	c.517G>A	c.(517-519)Ggg>Agg	p.G173R		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	173										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CAGCCAGCCAGGGGGCCTCAC	0.577000													4	215					0	0	1	0	0
ADIG	149685	broad.mit.edu	37	20	37209983	37209983	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:37209983A>T	ENST00000537425.1	+	1	146	c.75A>T	c.(73-75)ttA>ttT	p.L25F	ADIG_ENST00000373348.3_Missense_Mutation_p.L30F	NM_001018082.1	NP_001018092.1	Q0VDE8	ADIG_HUMAN	adipogenin	30					brown fat cell differentiation|positive regulation of fat cell differentiation|white fat cell differentiation	cytoplasm|integral to membrane|nucleus				endometrium(1)|kidney(1)	2		Myeloproliferative disorder(115;0.00878)				TGCTGTTGTTATTGATCATCT	0.522000													4	289					0	0	1	0	0
ANXA4	307	broad.mit.edu	37	2	70045736	70045736	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:70045736G>A	ENST00000394295.4	+	10	882	c.634G>A	c.(634-636)Gat>Aat	p.D212N	ANXA4_ENST00000409920.1_Missense_Mutation_p.D190N|ANXA4_ENST00000536030.1_Missense_Mutation_p.D128N	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	210					anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	p.D212N(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						TGCAGTGTTTGATGAATACAA	0.338000													65	127					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11485944	11485944	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:11485944A>T	ENST00000423059.3	-	13	3059	c.2808T>A	c.(2806-2808)agT>agA	p.S936R	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	936	TSP type-1 9.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTTCTTTTTACTTTTTCCTG	0.338000										HNSCC(18;0.044)			6	311					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27087903	27087903	+	Silent	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:27087903T>C	ENST00000324856.7	+	6	2561	c.2190T>C	c.(2188-2190)agT>agC	p.S730S	ARID1A_ENST00000457599.2_Silent_p.S730S|ARID1A_ENST00000374152.2_Silent_p.S347S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	730					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.P728fs(1)	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)		GGCCACCCAGTGGCCAGTCGG	0.532000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								3	254					0	0	1	0	0
NUDT16	131870	broad.mit.edu	37	3	131102114	131102114	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:131102114G>A	ENST00000359850.3	+	3	557	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	NUDT16_ENST00000537561.1_Missense_Mutation_p.E127K|NUDT16_ENST00000521288.1_Missense_Mutation_p.E173K|NUDT16_ENST00000502852.1_3'UTR	NM_152395.2	NP_689608.2	Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	173	Nudix hydrolase.					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding			large_intestine(1)|lung(6)	7						GCAGTTACTTGAAGCTCTCCA	0.552000													4	54					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169499033	169499033	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:169499033C>T	ENST00000367796.3	-	16	5448	c.5247G>A	c.(5245-5247)ttG>ttA	p.L1749L	F5_ENST00000367797.3_Silent_p.L1744L			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1744	F5/8 type A 3.|Plastocyanin-like 5.		L -> V (in dbSNP:rs6034).		cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GGGGACCTATCAAGCCTGAGT	0.373000													5	258					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76486590	76486590	+	Silent	SNP	C	C	A	rs151315964		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:76486590C>A	ENST00000307431.8	+	9	1639	c.1254C>A	c.(1252-1254)atC>atA	p.I418I	CNTNAP4_ENST00000476707.1_Silent_p.I422I|CNTNAP4_ENST00000377504.4_Silent_p.I370I|CNTNAP4_ENST00000478060.1_Silent_p.I346I|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	419	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.I394M(1)|p.I346M(1)|p.I418M(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAGGGGGTATCCTCCTCTTTC	0.458000													7	133					0.000274275	0.000281589	1	1	0
ESPL1	9700	broad.mit.edu	37	12	53684167	53684167	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:53684167A>T	ENST00000257934.4	+	24	5369	c.5278A>T	c.(5278-5280)Atc>Ttc	p.I1760F	ESPL1_ENST00000552462.1_Missense_Mutation_p.I1760F	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1760					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	p.I1760F(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GTTTGATGCCATCCAGAAGGC	0.547000													70	138					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168289893	168289893	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:168289893A>T	ENST00000366806.2	+	7	1039		c.e7-1		MLLT4_ENST00000400822.3_Splice_Site|MLLT4_ENST00000392108.3_Splice_Site|MLLT4_ENST00000392112.1_Splice_Site|MLLT4_ENST00000351017.4_Splice_Site|MLLT4_ENST00000447894.2_Splice_Site|MLLT4_ENST00000344191.4_Splice_Site			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4						adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTGTTTTTTTAGGTTATGCTT	0.328000			T	MLL	AL								6	112					0	0	1	0	0
PNMA1	9240	broad.mit.edu	37	14	74179821	74179821	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:74179821C>T	ENST00000316836.3	-	1	1307	c.522G>A	c.(520-522)gaG>gaA	p.E174E		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	174					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		caaaggtttcctctccaggcc	0.493000													4	58					0	0	1	0	0
ATP5B	506	broad.mit.edu	37	12	57033957	57033957	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:57033957T>C	ENST00000262030.3	-	8	1144	c.1094A>G	c.(1093-1095)gAt>gGt	p.D365G	ATP5B_ENST00000550162.1_5'UTR|ATP5B_ENST00000552919.1_Missense_Mutation_p.D354G	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	365					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	p.D365G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGTCAAGTCATCAGCAGGCAC	0.483000													50	96					0	0	1	0	0
FAM3C	10447	broad.mit.edu	37	7	121023056	121023056	+	Translation_Start_Site	SNP	A	A	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:121023056A>C	ENST00000359943.3	-	0	181					NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C						multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity			kidney(1)|lung(8)	9	all_neural(327;0.117)					ACTTTTCATTAATATGCTCCT	0.303000													16	28					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20552448	20552448	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:20552448A>T	ENST00000504154.1	+	25	2741		c.e25-1		SLIT2_ENST00000503823.1_Splice_Site|SLIT2_ENST00000503837.1_Splice_Site|SLIT2_ENST00000509394.2_Splice_Site|SLIT2_ENST00000273739.5_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													5	106					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178096592	178096592	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:178096592G>A	ENST00000397062.3	-	5	1293	c.739C>T	c.(739-741)Ctt>Ttt	p.L247F	NFE2L2_ENST00000464747.1_Missense_Mutation_p.L231F|NFE2L2_ENST00000446151.2_Missense_Mutation_p.L224F|NFE2L2_ENST00000397063.4_Missense_Mutation_p.L231F	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	247					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAAGCATTAAGAAAATGTGGA	0.403000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			10	121					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38189012	38189012	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:38189012G>A	ENST00000373048.4	-	9	1804	c.1805C>T	c.(1804-1806)gCc>gTc	p.A602V	EPHA10_ENST00000427468.2_Missense_Mutation_p.A602V|EPHA10_ENST00000330210.7_Missense_Mutation_p.A97V|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000540011.1_Missense_Mutation_p.A97V	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	602						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTCATCATGGGCATCCCCTCC	0.622000													3	91					0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47119732	47119732	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:47119732C>A	ENST00000290341.3	+	9	1404	c.1070C>A	c.(1069-1071)gCc>gAc	p.A357D	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.A218D	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	357	Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GATGTGGCTGCCATGAGCGTG	0.542000													3	65					1	1	1	1	0
N4BP2	55728	broad.mit.edu	37	4	40123363	40123363	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:40123363C>T	ENST00000261435.6	+	9	4048	c.3632C>T	c.(3631-3633)cCt>cTt	p.P1211L		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1211						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GCTGTCACTCCTGAAAACCAT	0.418000													5	100					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238244811	238244811	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:238244811C>T	ENST00000295550.4	-	40	9384	c.8932G>A	c.(8932-8934)Gct>Act	p.A2978T	COL6A3_ENST00000353578.4_Missense_Mutation_p.A2772T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A2777T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2778T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2772T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A2371T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2978	Ala-rich.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.A2978T(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTGGTGGCAGCTGGTTTGGCT	0.587000													22	68					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135441449	135441449	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:135441449A>T	ENST00000394143.1	+	11	7271		c.e11-1		GPR112_ENST00000412101.1_Splice_Site|GPR112_ENST00000394141.1_Splice_Site|GPR112_ENST00000370652.1_Splice_Site|GPR112_ENST00000287534.4_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCTGCTTTGTAGTTGTGTTTG	0.373000													5	368					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105421823	105421823	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:105421823C>T	ENST00000333244.5	-	5	582	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	155	PDZ.					nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATGGCACCTTCTCTCAAGTTA	0.582000													10	32					0	0	1	0	0
ZNF565	147929	broad.mit.edu	37	19	36674268	36674268	+	Silent	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:36674268A>G	ENST00000355114.5	-	5	1446	c.720T>C	c.(718-720)tgT>tgC	p.C240C	ZNF565_ENST00000392173.2_Silent_p.C200C|ZNF565_ENST00000304116.5_Silent_p.C200C			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			AGGCCTTCCCACATTCCTTAC	0.468000													8	180					0	0	1	0	0
UBP1	7342	broad.mit.edu	37	3	33434899	33434899	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:33434899G>A	ENST00000283629.3	-	14	1967	c.1438C>T	c.(1438-1440)Cga>Tga	p.R480*	UBP1_ENST00000447368.2_Nonsense_Mutation_p.R444*|UBP1_ENST00000283628.5_Nonsense_Mutation_p.R480*|UBP1_ENST00000486388.1_5'UTR	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	480					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						GCAAGTTTTCGAGCAACTTCT	0.353000													3	57					0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183816775	183816775	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:183816775G>T	ENST00000304685.3	+	4	780	c.319G>T	c.(319-321)Ggc>Tgc	p.G107C	RGL1_ENST00000367531.1_Missense_Mutation_p.G107C|RGL1_ENST00000536277.1_Missense_Mutation_p.G70C|RGL1_ENST00000360851.3_Missense_Mutation_p.G72C|RGL1_ENST00000539189.1_Missense_Mutation_p.G72C	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	72	N-terminal Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CATAAAAGCTGGCACCTTGGA	0.443000													18	486					4.63292e-17	4.88678e-17	1	1	0
MTMR3	8897	broad.mit.edu	37	22	30415933	30415933	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:30415933C>T	ENST00000333027.3	+	17	2613	c.2285C>T	c.(2284-2286)tCa>tTa	p.S762L	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Missense_Mutation_p.S762L|MTMR3_ENST00000401950.2_Missense_Mutation_p.S762L|MTMR3_ENST00000351488.3_Missense_Mutation_p.S762L|MTMR3_ENST00000323630.5_Missense_Mutation_p.S626L	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	762					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CCTCTGTTCTCACAGGGCATT	0.577000													41	169					0	0	1	0	0
SETMAR	6419	broad.mit.edu	37	3	4355104	4355104	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:4355104G>A	ENST00000358065.4	+	2	746	c.679G>A	c.(679-681)Gag>Aag	p.E227K	SETMAR_ENST00000430981.1_Missense_Mutation_p.E227K|SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000425863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	214	Histone-lysine N-methyltransferase.|SET.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		TCATTCTTGTGAGCCAAACCT	0.378000								Chromatin Structure					5	54					0	0	1	0	0
TUBA4A	7277	broad.mit.edu	37	2	220116808	220116808	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:220116808T>G	ENST00000392088.2	-	2	658	c.103A>C	c.(103-105)Acc>Ccc	p.T35P	TUBA4A_ENST00000248437.4_Missense_Mutation_p.T50P|TUBA4A_ENST00000498660.1_Intron	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	50					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.T50P(1)|p.T35P(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGAAGGTGGTGAAGGAGTCG	0.542000													62	136					0	0	1	0	0
NSMAF	8439	broad.mit.edu	37	8	59506794	59506794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:59506794G>A	ENST00000038176.3	-	23	2160	c.1948C>T	c.(1948-1950)Caa>Taa	p.Q650*	NSMAF_ENST00000427130.2_Nonsense_Mutation_p.Q681*	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	650					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CACTGACCTTGGGATGTTGTG	0.428000													42	104					0	0	1	0	0
DCAF17	80067	broad.mit.edu	37	2	172314880	172314880	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:172314880A>T	ENST00000375255.3	+	8	1059		c.e8-1		DCAF17_ENST00000539783.1_Splice_Site|DCAF17_ENST00000468592.1_Intron	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17							CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TTTTGTTTTTAGTTCATGCAA	0.358000													11	140					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98736074	98736074	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:98736074C>T	ENST00000477737.1	+	4	594	c.390C>T	c.(388-390)agC>agT	p.S130S	VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Silent_p.S130S	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	130										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCAGCAAGAGCCGGCAGATTT	0.493000													4	332					0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94521373	94521373	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:94521373G>A	ENST00000330836.5	-	7	2278	c.2147C>T	c.(2146-2148)cCc>cTc	p.P716L	DDX24_ENST00000555054.1_Missense_Mutation_p.P673L|DDX24_ENST00000544005.1_Missense_Mutation_p.P466L	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	716	Helicase C-terminal.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TGTCTGCACGGGGAACAGTGG	0.458000													10	1288					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240794	39240794	+	Silent	SNP	C	C	A	rs9894106		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:39240794C>A	ENST00000391417.4	+	1	336	c.336C>A	c.(334-336)ccC>ccA	p.P112P		NM_033061.3	NP_149050.3			keratin associated protein 4-7									p.R111_C115delRPSCC(1)|p.P112P(1)|p.?(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						gctgccgccccagctgctgcc	0.667000													5	6					5.4927e-09	5.70254e-09	1	1	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158616	26158616	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:26158616C>T	ENST00000289316.2	+	1	243	c.219C>T	c.(217-219)cgC>cgT	p.R73R	HIST1H2BD_ENST00000377777.4_Silent_p.R73R	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	73					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						TCTTCGAGCGCATCGCAGGCG	0.597000													81	512					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579591	7579591	+	Splice_Site	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:7579591C>T	ENST00000420246.2	-	4	229		c.e4-1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(8)|p.0?(8)|p.L35fs*10(3)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAAGGGGGACTGTAGATGGG	0.592000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			7	851					0	0	1	0	0
CDC14A	8556	broad.mit.edu	37	1	100843100	100843100	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:100843100A>T	ENST00000370125.2	+	3	628		c.e3-1		CDC14A_ENST00000336454.3_Splice_Site|CDC14A_ENST00000544534.1_Splice_Site|CDC14A_ENST00000361544.6_Splice_Site|CDC14A_ENST00000542213.1_Splice_Site|CDC14A_ENST00000370124.3_Splice_Site			Q9UNH5	CC14A_HUMAN	cell division cycle 14A						cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		CTTGTATCTTAGTTTCTATGC	0.279000													5	101					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17575702	17575702	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:17575702G>A	ENST00000375460.3	+	1	110	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	24					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGCTGGCGTGGAGACCCTCGT	0.612000													28	211					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28405393	28405393	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:28405393G>T	ENST00000394835.3	+	15	3090	c.2898G>T	c.(2896-2898)gaG>gaT	p.E966D	EFCAB5_ENST00000320856.5_Missense_Mutation_p.E842D|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	966							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ATGCTTTAGAGAGGAGCCACA	0.463000													6	313					2.0095e-06	2.07693e-06	1	1	0
OR1L1	26737	broad.mit.edu	37	9	125424612	125424612	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:125424612C>T	ENST00000373686.1	+	1	768	c.768C>T	c.(766-768)gtC>gtT	p.V256V				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V256V(1)		breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						GCTTGGCTGTCATAATGACCC	0.398000													470	249					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53569339	53569339	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:53569339A>T	ENST00000025008.5	-	15	3573	c.3050T>A	c.(3049-3051)tTa>tAa	p.L1017*	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Nonsense_Mutation_p.L1017*|RB1CC1_ENST00000539297.1_Nonsense_Mutation_p.L1017*	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1017					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TTCCTTTTTTAATTCCTCCAA	0.338000													5	109					0	0	1	0	0
PIP	5304	broad.mit.edu	37	7	142829297	142829297	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:142829297G>C	ENST00000291009.3	+	1	128	c.88G>C	c.(88-90)Gac>Cac	p.D30H		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	30						extracellular region	actin binding	p.D30H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		CAAAGCTCAGGACAACACGTG	0.537000													167	445					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56481856	56481856	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:56481856C>A	ENST00000267101.3	+	7	1224	c.784C>A	c.(784-786)Cct>Act	p.P262T	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.P203T	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	262					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTGTCCACAGCCTCTTGTCTA	0.512000													4	177					1	1	1	1	0
C4orf21	55345	broad.mit.edu	37	4	113540540	113540540	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:113540540C>T	ENST00000505019.1	-	6	783	c.658G>A	c.(658-660)Gga>Aga	p.G220R	C4orf21_ENST00000445203.2_Missense_Mutation_p.G189R|C4orf21_ENST00000309071.5_Missense_Mutation_p.G220R	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	220										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AGCTTATTTCCAGAATTGACA	0.388000													5	39					0	0	1	0	0
SLC2A13	114134	broad.mit.edu	37	12	40158549	40158549	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:40158549G>A	ENST00000280871.4	-	8	1607	c.1557C>T	c.(1555-1557)ttC>ttT	p.F519F		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	519						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CAGGTGCAAAGAAGACAAGAT	0.338000										HNSCC(50;0.14)			4	199					0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7887541	7887541	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:7887541A>T	ENST00000377532.3	+	17	2776	c.2552A>T	c.(2551-2553)tAc>tTc	p.Y851F	PER3_ENST00000361923.2_Missense_Mutation_p.Y843F			P56645	PER3_HUMAN	period circadian clock 3	843	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTTTCCTTACTTGGATACT	0.577000													7	361					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167254723	167254723	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:167254723C>T	ENST00000308378.3	-	7	1138	c.833G>A	c.(832-834)gGa>gAa	p.G278E	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.G342E|WDR49_ENST00000476376.1_Missense_Mutation_p.G103E	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	278										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CTGTATACCTCCTTTCCATTC	0.393000													6	190					0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35480663	35480663	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:35480663T>C	ENST00000357182.4	-	5	756	c.529A>G	c.(529-531)Aag>Gag	p.K177E	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.K177E|ZMYM6_ENST00000487874.1_Missense_Mutation_p.K177E	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	177					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.K177E(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GGTTTTTTCTTTAGCTCATAA	0.348000													29	40					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460390	107460390	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:107460390C>T	ENST00000409382.3	-	2	654	c.44G>A	c.(43-45)gGa>gAa	p.G15E	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G15E|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G15E	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	15					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						AGCGAATATTCCGAAAAGCAT	0.517000													21	46					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113539199	113539199	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:113539199G>T	ENST00000505019.1	-	6	2124	c.1999C>A	c.(1999-2001)Caa>Aaa	p.Q667K	C4orf21_ENST00000445203.2_Missense_Mutation_p.Q636K|C4orf21_ENST00000309071.5_Missense_Mutation_p.Q667K	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	667								p.Q667K(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTGACTTCTTGAATAGGTTTA	0.313000													6	37					0.0293803	0.0297669	1	1	0
DUOX1	53905	broad.mit.edu	37	15	45433252	45433252	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:45433252G>A	ENST00000321429.4	+	14	1956	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K	DUOX1_ENST00000561166.1_Missense_Mutation_p.E163K|DUOX1_ENST00000389037.3_Missense_Mutation_p.E517K	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	517	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTACTGGTTTGAGAACACCAG	0.617000													13	170					0	0	1	0	0
PDXP	57026	broad.mit.edu	37	22	38055358	38055358	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:38055358C>G	ENST00000215904.6	+	1	625	c.569C>G	c.(568-570)aCc>aGc	p.T190S	SH3BP1_ENST00000599616.1_Intron	NM_020315.4	NP_064711.1			pyridoxal (pyridoxine, vitamin B6) phosphatase									p.T190S(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(2)	9	Melanoma(58;0.0574)					GGCAGCCGGACCCCTGGTGAG	0.711000													3	7					0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180904820	180904820	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:180904820A>C	ENST00000367588.4	+	5	1830	c.1775A>C	c.(1774-1776)gAa>gCa	p.E592A	KIAA1614_ENST00000367587.1_Missense_Mutation_p.E213A	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	592								p.E592A(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CTCCACATGGAATGGATCCGG	0.637000													35	61					0	0	1	0	0
SLC14A1	6563	broad.mit.edu	37	18	43314250	43314250	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr18:43314250C>T	ENST00000321925.4	+	5	585	c.353C>T	c.(352-354)gCa>gTa	p.A118V	SLC14A1_ENST00000502059.2_Missense_Mutation_p.A10V|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000535474.1_5'UTR|SLC14A1_ENST00000402943.2_Missense_Mutation_p.A13V|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000415427.3_Missense_Mutation_p.A174V|SLC14A1_ENST00000589700.1_Missense_Mutation_p.A118V|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000586142.1_Missense_Mutation_p.A118V|SLC14A1_ENST00000436407.3_Missense_Mutation_p.A174V	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	118						integral to plasma membrane	urea transmembrane transporter activity	p.A118V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TCATTAATAGCATCTGGGCTC	0.478000													4	88					0	0	1	0	0
ARMC8	25852	broad.mit.edu	37	3	137960624	137960624	+	Splice_Site	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:137960624G>A	ENST00000469044.1	+	11	1108		c.e11-1		ARMC8_ENST00000471453.1_Splice_Site|ARMC8_ENST00000470821.1_Splice_Site|ARMC8_ENST00000489213.1_Splice_Site|ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000491704.1_Splice_Site|ARMC8_ENST00000358441.2_Splice_Site|ARMC8_ENST00000485396.1_Splice_Site|ARMC8_ENST00000481646.1_Splice_Site|ARMC8_ENST00000393058.3_Splice_Site|ARMC8_ENST00000538260.1_Splice_Site	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8								binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						CTACCTTTCAGACATTACCTT	0.368000													112	144					0	0	1	0	0
TCF12	6938	broad.mit.edu	37	15	57355946	57355946	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:57355946A>T	ENST00000267811.5	+	4	452		c.e4-1		TCF12_ENST00000333725.5_Splice_Site|TCF12_ENST00000438423.2_Splice_Site|TCF12_ENST00000452095.2_Intron|TCF12_ENST00000557843.1_Splice_Site	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12						immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TTCTCTTTTTAGGTATTGATG	0.363000			T	TEC	extraskeletal myxoid chondrosarcoma								15	255					0	0	1	0	0
CRTC1	23373	broad.mit.edu	37	19	18876286	18876286	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:18876286C>T	ENST00000338797.6	+	10	1032	c.1007C>T	c.(1006-1008)gCa>gTa	p.A336V	CRTC1_ENST00000321949.8_Missense_Mutation_p.A320V|CRTC1_ENST00000601916.1_Missense_Mutation_p.A245V|CRTC1_ENST00000594658.1_Missense_Mutation_p.A279V	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	320	Ser-rich.				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						AGCACAGAGGCAAGGCGTCAG	0.657000													15	101					0	0	1	0	0
RASSF8	11228	broad.mit.edu	37	12	26220645	26220645	+	Splice_Site	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:26220645G>A	ENST00000405154.2	+	4	1336	c.1138_splice	c.e4+1	p.R379_splice	RASSF8_ENST00000282884.9_Splice_Site_p.R379_splice|RASSF8_ENST00000541490.1_Splice_Site_p.R379_splice|RASSF8_ENST00000542865.1_Splice_Site_p.R379_splice|RASSF8_ENST00000381352.3_Splice_Site_p.R379_splice	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	379					signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					ACATTGAAAGGGGTAAGATGT	0.403000													9	263					0	0	1	0	0
UBE3C	9690	broad.mit.edu	37	7	157000395	157000395	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:157000395A>T	ENST00000348165.5	+	13	1936		c.e13-1			NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C						protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGTGTTTTTTAGTTGTAGGTC	0.348000													7	244					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65179106	65179106	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr18:65179106C>T	ENST00000310045.7	-	2	4243	c.2770G>A	c.(2770-2772)Ggg>Agg	p.G924R	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	914						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CGAAAATGCCCACTGCGGATA	0.433000													8	84					0	0	1	0	0
FTSJ3	117246	broad.mit.edu	37	17	61897195	61897195	+	Silent	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:61897195A>T	ENST00000427159.2	-	21	3156	c.2511T>A	c.(2509-2511)cgT>cgA	p.R837R		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	837					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TTTGTTCCTTACGTTGCTGTG	0.537000													26	920					0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45502732	45502732	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:45502732C>A	ENST00000291574.4	+	14	1962	c.1787C>A	c.(1786-1788)tCc>tAc	p.S596Y		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	596					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			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						TTTGATCCCTCCAATGCCGTG	0.493000													5	591					0.014758	0.015018	1	1	0
TBC1D8B	54885	broad.mit.edu	37	X	106109045	106109045	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:106109045A>T	ENST00000357242.5	+	16	2618	c.2444A>T	c.(2443-2445)tAt>tTt	p.Y815F	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.Y809F	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	815						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTATCTTGTTATTGGTGTTTG	0.343000													7	179					0	0	1	0	0
ALG10B	144245	broad.mit.edu	37	12	38714245	38714245	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:38714245G>A	ENST00000308742.4	+	3	968	c.652G>A	c.(652-654)Gac>Aac	p.D218N	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	218					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AAAGAAGGAAGACAGACTTCC	0.378000													4	181					0	0	1	0	0
ACSL3	2181	broad.mit.edu	37	2	223782769	223782769	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:223782769A>T	ENST00000357430.3	+	6	1093	c.562A>T	c.(562-564)Aca>Tca	p.T188S	AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	188					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTTAGTTGTTACATTATATGC	0.348000			T	ETV1	prostate								6	147					0	0	1	0	0
AGAP2	116986	broad.mit.edu	37	12	58124279	58124279	+	Splice_Site	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:58124279C>T	ENST00000257897.3	-	12	1504	c.1420_splice	c.e12+1	p.T473_splice	AGAP2_ENST00000547588.1_Splice_Site_p.T809_splice	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	809	G domain.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	p.T809T(1)|p.T473T(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CCCACTGACCCGTGCTGAGGG	0.562000													6	740					0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40123371	40123371	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:40123371C>T	ENST00000261435.6	+	9	4056	c.3640C>T	c.(3640-3642)Cat>Tat	p.H1214Y		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1214						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TCCTGAAAACCATGAATCGAT	0.418000													5	105					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37168957	37168957	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:37168957A>T	ENST00000274258.7	-	34	7396	c.3809T>A	c.(3808-3810)aTa>aAa	p.I1270K	C5orf42_ENST00000425232.2_Missense_Mutation_p.I2390K|C5orf42_ENST00000508244.1_Missense_Mutation_p.I2390K			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2390										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTCTTCTGCTATAGGTTGGAT	0.373000													5	213					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32634384	32634384	+	Silent	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:32634384A>G	ENST00000242310.4	-	1	1283	c.1194T>C	c.(1192-1194)tcT>tcC	p.S398S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	398					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCATCATTCTAGATTTTATCA	0.453000													4	380					0	0	1	0	0
EEF1E1	9521	broad.mit.edu	37	6	8080190	8080190	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:8080190G>A	ENST00000379715.5	-	4	514	c.458C>T	c.(457-459)cCa>cTa	p.P153L	EEF1E1_ENST00000429723.2_Intron|EEF1E1-MUTED_ENST00000397456.2_Intron	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	153	GST C-terminal.				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					CCTGATGCCTGGATAATGCTG	0.378000													5	116					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130287215	130287215	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:130287215G>A	ENST00000358511.6	+	5	2199	c.2168G>A	c.(2167-2169)aGa>aAa	p.R723K	COL6A6_ENST00000453409.2_Missense_Mutation_p.R723K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	723	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCCAACATCAGAAAGTTTCTC	0.512000													24	162					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16265314	16265314	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:16265314C>T	ENST00000375759.3	+	14	11010	c.10806C>T	c.(10804-10806)taC>taT	p.Y3602Y		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3602	SPOC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCATCACTTACCTGCAGGCCA	0.572000													18	157					0	0	1	0	0
VPS35	55737	broad.mit.edu	37	16	46705623	46705623	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:46705623C>T	ENST00000299138.7	-	12	1576	c.1518G>A	c.(1516-1518)caG>caA	p.Q506Q		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	506					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ATACCAAGTACTGCTGGTCAG	0.448000													8	109					0	0	1	0	0
FBXO38	81545	broad.mit.edu	37	5	147788696	147788696	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:147788696G>A	ENST00000340253.5	+	8	1046	c.878G>A	c.(877-879)aGa>aAa	p.R293K	FBXO38_ENST00000513826.1_Missense_Mutation_p.R293K|FBXO38_ENST00000394370.3_Missense_Mutation_p.R293K|FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000296701.6_Missense_Mutation_p.R293K			Q6PIJ6	FBX38_HUMAN	F-box protein 38	293						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGTTTTAGAAATTTGCAC	0.348000													9	363					0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92987688	92987688	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:92987688T>A	ENST00000544910.1	+	29	2965	c.2745T>A	c.(2743-2745)aaT>aaA	p.N915K	CCDC132_ENST00000541136.1_3'UTR|CCDC132_ENST00000305866.5_Missense_Mutation_p.N945K|CCDC132_ENST00000535481.1_Missense_Mutation_p.N665K	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	945										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CCCATATCAATAAGAAAGCAA	0.388000													5	171					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186086589	186086589	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:186086589A>T	ENST00000271588.4	+	77	11912		c.e77-1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGTTGTTTTAGTTCCACCTT	0.403000													5	120					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41585811	41585811	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:41585811A>G	ENST00000262415.3	+	16	2497	c.2425A>G	c.(2425-2427)Atc>Gtc	p.I809V	DHX8_ENST00000540306.1_Missense_Mutation_p.I809V	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	809	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	p.I809V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AGAGTTAATTATCCTCCCAGT	0.468000													113	107					0	0	1	0	0
NUAK2	81788	broad.mit.edu	37	1	205272959	205272959	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:205272959G>A	ENST00000367157.3	-	7	1632	c.1506C>T	c.(1504-1506)ctC>ctT	p.L502L		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	502					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CATTGAGTTTGAGGATGCCTT	0.642000													7	72					0	0	1	0	0
ARMC8	25852	broad.mit.edu	37	3	137960639	137960639	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:137960639G>A	ENST00000469044.1	+	11	1123	c.852G>A	c.(850-852)ttG>ttA	p.L284L	ARMC8_ENST00000471453.1_Silent_p.L270L|ARMC8_ENST00000470821.1_Silent_p.L284L|ARMC8_ENST00000489213.1_Silent_p.L242L|ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000491704.1_Silent_p.L242L|ARMC8_ENST00000358441.2_Silent_p.L270L|ARMC8_ENST00000485396.1_Silent_p.L211L|ARMC8_ENST00000481646.1_Silent_p.L270L|ARMC8_ENST00000393058.3_Silent_p.L274L|ARMC8_ENST00000538260.1_Silent_p.L253L	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	284							binding	p.L270F(2)		endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TACCTTGTTTGGTTCGAATGT	0.378000													178	178					0	0	1	0	0
SHOC2	8036	broad.mit.edu	37	10	112724542	112724542	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:112724542G>A	ENST00000369452.4	+	2	771	c.426G>A	c.(424-426)gtG>gtA	p.V142V	SHOC2_ENST00000265277.5_Silent_p.V142V|SHOC2_ENST00000489390.1_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	142					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		CAGCAGAGGTGGGATGTTTAG	0.383000													4	116					0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145666428	145666428	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:145666428A>T	ENST00000409379.3	-	8	961	c.932T>A	c.(931-933)aTg>aAg	p.M311K		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	311					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	p.M311K(1)|p.M152K(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						ACAGATGACCATGGCACCCTG	0.637000													5	9					0	0	1	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947012	57947012	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:57947012A>T	ENST00000335397.3	+	3	412	c.96A>T	c.(94-96)ttA>ttT	p.L32F		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TCTTGTTTTTATTTATGTATC	0.448000													10	416					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7651778	7651778	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:7651778G>A	ENST00000359156.4	-	4	666	c.464C>T	c.(463-465)tCc>tTc	p.S155F	CD163_ENST00000432237.2_Missense_Mutation_p.S155F|CD163_ENST00000541972.1_Missense_Mutation_p.S143F|CD163_ENST00000396620.3_Missense_Mutation_p.S155F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	155					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TTCCAAATTGGATCCATCTGG	0.408000													10	548					0	0	1	0	0
RHD	6007	broad.mit.edu	37	1	25628086	25628086	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:25628086C>T	ENST00000328664.4	+	5	865	c.710C>T	c.(709-711)gCc>gTc	p.A237V	RHD_ENST00000342055.5_Missense_Mutation_p.A237V|RHD_ENST00000423810.2_Missense_Mutation_p.A237V|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000357542.4_Missense_Mutation_p.A237V|RHD_ENST00000568195.1_Missense_Mutation_p.A237V|RHD_ENST00000454452.2_Missense_Mutation_p.A237V|RHD_ENST00000417538.2_Missense_Mutation_p.A237V	NM_016124.3	NP_057208.2	Q02161	RHD_HUMAN	Rh blood group, D antigen	237						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGAAGAATGCCGTGTTCAAC	0.557000													5	709					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215690	20215690	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:20215690A>T	ENST00000331723.1	+	1	104	c.104A>T	c.(103-105)tAc>tTc	p.Y35F		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGTTTTTTTACATTGCTATT	0.378000													8	299					0	0	1	0	0
SDHAF2	54949	broad.mit.edu	37	11	61205474	61205474	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:61205474A>T	ENST00000301761.2	+	3	334		c.e3-1		SDHAF2_ENST00000534878.1_Splice_Site|RP11-286N22.8_ENST00000544880.1_Splice_Site|SDHAF2_ENST00000537782.1_Splice_Site|SDHAF2_ENST00000543265.1_Intron|RP11-286N22.8_ENST00000543044.1_Splice_Site|SDHAF2_ENST00000542074.1_Intron	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													6	170					0	0	1	0	0
USP32P2	220594	broad.mit.edu	37	17	18420715	18420715	+	RNA	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:18420715G>A	ENST00000425211.1	-	0	1762																											AAACTTTCCCGAGGAAATTTG	0.443000													27	28					0	0	1	0	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130653221	130653221	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:130653221G>A	ENST00000373146.1	-	5	578	c.399C>T	c.(397-399)atC>atT	p.I133I	ST6GALNAC6_ENST00000373144.3_Silent_p.I99I|ST6GALNAC6_ENST00000291839.5_Silent_p.I133I|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373141.1_Silent_p.I99I|ST6GALNAC6_ENST00000373142.1_Silent_p.I133I			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	133					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CATTCATGCGGATTGTACACT	0.607000													4	20					0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61463591	61463591	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr18:61463591A>G	ENST00000398019.2	+	5	753	c.428A>G	c.(427-429)aAt>aGt	p.N143S	SERPINB7_ENST00000540675.1_Missense_Mutation_p.N126S|SERPINB7_ENST00000336429.2_Missense_Mutation_p.N143S|SERPINB7_ENST00000546027.1_Missense_Mutation_p.N143S	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	143					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	p.N143S(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CGTAATATTAATAAGTGGGTT	0.353000													38	18					0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20727828	20727828	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:20727828T>C	ENST00000427401.4	-	4	1275	c.1181A>G	c.(1180-1182)gAg>gGg	p.E394G		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	394					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.E393G(1)		breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GTAGGGTTTCTCTCCAGTATG	0.408000													20	57					0	0	1	0	0
IQCK	124152	broad.mit.edu	37	16	19746673	19746673	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:19746673A>T	ENST00000320394.6	+	5	1075		c.e5-1		IQCK_ENST00000433597.2_Splice_Site|IQCK_ENST00000541926.1_Splice_Site|IQCK_ENST00000564186.1_Splice_Site	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K											kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						TGTTTGTTTTAGGTTCTCCCA	0.428000													4	83					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72830584	72830584	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:72830584C>G	ENST00000268489.5	-	9	6669	c.5997G>C	c.(5995-5997)aaG>aaC	p.K1999N	ZFHX3_ENST00000397992.5_Missense_Mutation_p.K1085N	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1999					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTGATGACTCTTTAAAATCA	0.443000													8	456					0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52851529	52851529	+	Silent	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:52851529T>A	ENST00000371568.3	-	9	1694	c.1476A>T	c.(1474-1476)cgA>cgT	p.R492R	ORC1_ENST00000371566.1_Silent_p.R492R	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	492					cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	p.R492R(1)		breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGTACCTCAGTCGGGCTTCCT	0.542000													11	41					0	0	1	0	0
THYN1	29087	broad.mit.edu	37	11	134118717	134118717	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:134118717T>C	ENST00000341541.3	-	6	1078	c.617A>G	c.(616-618)cAg>cGg	p.Q206R	THYN1_ENST00000352327.5_Intron|THYN1_ENST00000392595.2_Missense_Mutation_p.Q206R|THYN1_ENST00000392594.3_Missense_Mutation_p.Q206R	NM_014174.2	NP_054893.1	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1	206						nucleus		p.Q206R(1)		endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-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;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		ggtcagggGCTGGATTGATAA	0.468000													5	56					0	0	1	0	0
FAM122C	159091	broad.mit.edu	37	X	133948799	133948799	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:133948799A>T	ENST00000445123.1	+	3	274		c.e3-1		FAM122C_ENST00000414371.2_Splice_Site|FAM122C_ENST00000370784.4_Splice_Site|FAM122C_ENST00000370785.3_Splice_Site			Q6P4D5	F222C_HUMAN	family with sequence similarity 122C											endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TTTTCTTTTTAGTTTTAATTC	0.338000													9	98					0	0	1	0	0
ASB13	79754	broad.mit.edu	37	10	5690940	5690940	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:5690940G>A	ENST00000357700.6	-	4	536	c.510C>T	c.(508-510)ctC>ctT	p.L170L	ASB13_ENST00000479033.1_5'UTR	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	170					intracellular signal transduction		protein binding			NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		CACCTGCATTGAGCAGCACTT	0.587000													24	185					0	0	1	0	0
FSIP1	161835	broad.mit.edu	37	15	40068678	40068678	+	Silent	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:40068678T>A	ENST00000350221.3	-	2	257	c.48A>T	c.(46-48)tcA>tcT	p.S16S	RP11-37C7.1_ENST00000558616.1_RNA	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	16								p.S16S(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TTCTTGAATTTGAAGCTGGTT	0.358000													59	80					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839353	62839353	+	Silent	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:62839353A>G	ENST00000536311.1	+	7	1168	c.804A>G	c.(802-804)gaA>gaG	p.E268E	MYT1_ENST00000328439.1_Silent_p.E268E|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	268	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E268E(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaagaggaggagg	0.572000													3	18					0	0	1	0	0
MDH1	4190	broad.mit.edu	37	2	63834039	63834039	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:63834039T>A	ENST00000233114.8	+	9	1358	c.923T>A	c.(922-924)tTc>tAc	p.F308Y	MDH1_ENST00000394423.1_Missense_Mutation_p.F308Y|MDH1_ENST00000544381.1_Missense_Mutation_p.F219Y|MDH1_ENST00000539945.1_Missense_Mutation_p.F326Y|MDH1_ENST00000409476.1_Missense_Mutation_p.F184Y|MDH1_ENST00000409908.1_Missense_Mutation_p.F143Y	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)	308					gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity	p.F308Y(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13					NADH(DB00157)	ATTAATGATTTCTCACGTGAG	0.353000													14	39					0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42163859	42163859	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:42163859A>T	ENST00000520810.1	+	7	663		c.e7-1		IKBKB_ENST00000519735.1_Splice_Site|IKBKB_ENST00000520835.1_Splice_Site|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000416505.2_Splice_Site	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta						anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	CTTTTGTTTTAGTTAATACAC	0.438000													5	71					0	0	1	0	0
ARMC8	25852	broad.mit.edu	37	3	137960824	137960824	+	Splice_Site	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:137960824G>A	ENST00000469044.1	+	11	1308	c.1038_splice	c.e11+1	p.R346_splice	ARMC8_ENST00000471453.1_Splice_Site_p.R332_splice|ARMC8_ENST00000470821.1_Splice_Site_p.R346_splice|ARMC8_ENST00000489213.1_Splice_Site_p.R304_splice|ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000491704.1_Splice_Site_p.R304_splice|ARMC8_ENST00000358441.2_Splice_Site_p.R332_splice|ARMC8_ENST00000485396.1_Splice_Site_p.R273_splice|ARMC8_ENST00000481646.1_Splice_Site_p.R332_splice|ARMC8_ENST00000393058.3_Splice_Site_p.R336_splice|ARMC8_ENST00000538260.1_Splice_Site_p.R315_splice	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	346							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						GATATTAAAAGGGTATGTTAT	0.378000													104	143					0	0	1	0	0
XRCC1	7515	broad.mit.edu	37	19	44055819	44055819	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:44055819G>A	ENST00000262887.5	-	10	1650	c.1103C>T	c.(1102-1104)cCc>cTc	p.P368L	XRCC1_ENST00000543982.1_Missense_Mutation_p.P337L			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	368	BRCT 1.				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				GCTGTACTTGGGGGTGTTGGC	0.617000								Other BER factors					8	326					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112458445	112458445	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:112458445C>T	ENST00000302475.4	-	4	956	c.393G>A	c.(391-393)atG>atA	p.M131I	MCC_ENST00000515367.2_Missense_Mutation_p.M68I|MCC_ENST00000408903.3_Missense_Mutation_p.M321I|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	131					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GGTCTTGGTCCATGCTTCGAG	0.522000													8	157					0	0	1	0	0
ZYG11B	79699	broad.mit.edu	37	1	53245634	53245634	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:53245634T>A	ENST00000294353.6	+	4	1206	c.1061T>A	c.(1060-1062)gTg>gAg	p.V354E	ZYG11B_ENST00000545132.1_Missense_Mutation_p.V354E|ZYG11B_ENST00000443756.2_Missense_Mutation_p.V354E	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	354							protein binding	p.V354E(1)		breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						CTGACTCATGTGATGGAAAAA	0.363000													53	86					0	0	1	0	0
ACY1	95	broad.mit.edu	37	3	52012054	52012054	+	Missense_Mutation	SNP	G	G	A	rs140557711	by1000genomes	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:52012054G>A	ENST00000458031.2	+	2	323	c.92G>A	c.(91-93)cGc>cAc	p.R31H	ABHD14A-ACY1_ENST00000463937.1_Silent_p.S79S|ABHD14B_ENST00000483233.1_Intron|ABHD14A_ENST00000273596.3_Silent_p.S79S|ABHD14A_ENST00000491470.1_Silent_p.S79S			Q03154	ACY1_HUMAN	aminoacylase 1	0					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity	p.S79S(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	CTGGCAACTCGCCCATCTTTT	0.617000													14	7					0	0	1	0	0
RSU1	6251	broad.mit.edu	37	10	16824085	16824085	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:16824085T>A	ENST00000377921.3	-	2	411		c.e2-2		RSU1_ENST00000464074.2_Intron|RSU1_ENST00000345264.5_Splice_Site|RSU1_ENST00000602389.1_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													8	124					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15742486	15742486	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:15742486G>A	ENST00000281171.4	+	25	3838	c.3508G>A	c.(3508-3510)Gaa>Aaa	p.E1170K	PTPRO_ENST00000442921.2_Missense_Mutation_p.E359K|PTPRO_ENST00000348962.2_Missense_Mutation_p.E1142K|PTPRO_ENST00000544244.1_Missense_Mutation_p.E331K|PTPRO_ENST00000542557.1_Missense_Mutation_p.E331K|PTPRO_ENST00000445537.2_Missense_Mutation_p.E359K	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1170	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GCTGGTGTCAGAAATGAGGTC	0.443000													7	287					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128297850	128297850	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:128297850C>T	ENST00000368227.3	-	28	4338	c.3972G>A	c.(3970-3972)atG>atA	p.M1324I	PTPRK_ENST00000368207.3_Missense_Mutation_p.M1339I|PTPRK_ENST00000368210.3_Missense_Mutation_p.M1325I|PTPRK_ENST00000368226.4_Missense_Mutation_p.M1307I|PTPRK_ENST00000368215.3_Missense_Mutation_p.M1306I|PTPRK_ENST00000532331.1_Missense_Mutation_p.M1329I|PTPRK_ENST00000368213.5_Missense_Mutation_p.M1313I			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1306	Tyrosine-protein phosphatase 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CATCACAGTCCATTGAACAAG	0.438000													4	83					0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6156458	6156458	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:6156458A>T	ENST00000588304.1	+	5	699	c.253A>T	c.(253-255)Att>Ttt	p.I85F	ACSBG2_ENST00000586696.1_Missense_Mutation_p.I135F|ACSBG2_ENST00000591403.1_Missense_Mutation_p.I135F|ACSBG2_ENST00000252669.5_Missense_Mutation_p.I135F|ACSBG2_ENST00000588485.1_Intron			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	135					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTGTGTTGGTATTTATGCCAC	0.428000													7	628					0	0	1	0	0
PQLC3	130814	broad.mit.edu	37	2	11304356	11304356	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:11304356C>A	ENST00000295083.3	+	4	498	c.323C>A	c.(322-324)gCc>gAc	p.A108D	PQLC3_ENST00000441908.2_Missense_Mutation_p.A108D|PQLC3_ENST00000476787.1_Intron|PQLC3_ENST00000402361.1_Missense_Mutation_p.A108D	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	108						integral to membrane		p.A108D(1)		kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		TTCATCCTTGCCCTGCAGAAG	0.458000													46	83					3.76628e-20	4.00005e-20	1	1	0
IGKV1-6	28943	broad.mit.edu	37	2	89265853	89265853	+	RNA	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:89265853G>A	ENST00000464162.1	-	0	307																											TGGTGAGAGTGAAATCTGTGC	0.478000													6	309					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170096194	170096194	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:170096194G>A	ENST00000263816.3	-	26	4422	c.4137C>T	c.(4135-4137)ttC>ttT	p.F1379F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1379	EGF-like 5.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGGCAAGTAAGAATCCCAATG	0.428000													46	219					0	0	1	0	0
HIST1H2BL	8340	broad.mit.edu	37	6	27775524	27775524	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:27775524C>T	ENST00000377401.2	-	1	185	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	54					nucleosome assembly	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						AGAAGAGATGCCGGTGTCGGG	0.582000													4	177					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325175	152325175	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:152325175T>C	ENST00000388718.5	-	3	5159	c.5087A>G	c.(5086-5088)cAt>cGt	p.H1696R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1696							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)			TGTCTGTCCATGAGTAGTTCC	0.493000													19	1240					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725596	32725596	+	Silent	SNP	C	C	G	rs115565146	by1000genomes	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:32725596C>G	ENST00000435145.2	-	4	772	c.711G>C	c.(709-711)ctG>ctC	p.L237L	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Silent_p.L237L			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CGAGGAAGATCAGCCCCAGCA	0.562000													4	19					0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202626520	202626520	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:202626520C>T	ENST00000264276.6	-	4	569	c.197G>A	c.(196-198)gGg>gAg	p.G66E	ALS2_ENST00000467448.1_Missense_Mutation_p.G66E|ALS2_ENST00000496244.1_5'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	66					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GGGAAGAGTCCCAAAGCTGTA	0.383000													5	149					0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33725901	33725901	+	Silent	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:33725901C>A	ENST00000399362.4	-	6	947	c.594G>T	c.(592-594)gtG>gtT	p.V198V	CLASP2_ENST00000468888.2_Silent_p.V198V|CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000359576.5_Silent_p.V198V	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	198								p.V198V(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CTTTTTCTCCCACATGTCTAT	0.318000													59	61					4.97629e-18	5.27304e-18	1	1	0
FAM124A	220108	broad.mit.edu	37	13	51825776	51825776	+	Silent	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr13:51825776G>T	ENST00000322475.8	+	3	408	c.273G>T	c.(271-273)cgG>cgT	p.R91R	FAM124A_ENST00000280057.6_Silent_p.R127R	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	91								p.R127R(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		GGCGGCGGCGGAAGCCCCCCA	0.706000													2	1					0.115264	0.116271	1	1	0
EMC1	23065	broad.mit.edu	37	1	19559502	19559502	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:19559502G>A	ENST00000477853.1	-	14	1602	c.1560C>T	c.(1558-1560)atC>atT	p.I520I	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Silent_p.I519I|EMC1_ENST00000375208.3_Silent_p.I498I	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1																		TGTCAATGTTGATCTCATTCT	0.493000													9	452					0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30868348	30868348	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:30868348G>A	ENST00000265299.6	+	6	1204	c.1127G>A	c.(1126-1128)cGg>cAg	p.R376Q	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	376										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGTGCCCTGCGGCTCGGTAGG	0.577000													287	1074					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43306092	43306092	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:43306092C>T	ENST00000361428.2	-	10	5721	c.5644G>A	c.(5644-5646)Gat>Aat	p.D1882N	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1882					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ACAGGTGTATCTTGTGGGTTG	0.418000													13	144					0	0	1	0	0
TMCC3	57458	broad.mit.edu	37	12	94965356	94965356	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:94965356G>A	ENST00000261226.4	-	4	1420	c.1289C>T	c.(1288-1290)tCc>tTc	p.S430F	TMCC3_ENST00000551457.1_Missense_Mutation_p.S399F	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	430						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CGCGATGGTGGACACACACAC	0.493000													140	778					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56247390	56247390	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr18:56247390A>T	ENST00000361673.3	-	4	831	c.618T>A	c.(616-618)agT>agA	p.S206R		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	206							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTCTGTGTTACTTGGATCAT	0.403000													6	308					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65179125	65179125	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr18:65179125C>T	ENST00000310045.7	-	2	4224	c.2751G>A	c.(2749-2751)aaG>aaA	p.K917K	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	907						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TATCTGACACCTTCCATTCAC	0.423000													9	85					0	0	1	0	0
ALG10B	144245	broad.mit.edu	37	12	38714411	38714411	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:38714411G>A	ENST00000308742.4	+	3	1134	c.818G>A	c.(817-819)gGa>gAa	p.G273E	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	273					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				GTTAATGGTGGAATTGTTATT	0.358000													9	240					0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119053914	119053914	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:119053914G>A	ENST00000409109.1	+	10	3281	c.2694G>A	c.(2692-2694)gtG>gtA	p.V898V	NLRX1_ENST00000292199.2_Silent_p.V898V|NLRX1_ENST00000409265.4_Intron|NLRX1_ENST00000525863.1_Intron|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000409991.1_Silent_p.V898V			Q86UT6	NLRX1_HUMAN	NLR family member X1	898	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGGTGGTGGTGTCACTGACAG	0.612000													3	66					0	0	1	0	0
SEPT10	151011	broad.mit.edu	37	2	110350690	110350690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:110350690G>A	ENST00000356688.4	-	2	352	c.37C>T	c.(37-39)Cag>Tag	p.Q13*	SEPT10_ENST00000397712.2_Nonsense_Mutation_p.Q13*|SEPT10_ENST00000397714.2_Intron|SEPT10_ENST00000545389.1_Nonsense_Mutation_p.Q13*|SEPT10_ENST00000437928.1_5'UTR|SEPT10_ENST00000415095.1_Nonsense_Mutation_p.Q13*|SEPT10_ENST00000334001.6_5'UTR			Q9P0V9	SEP10_HUMAN	septin 10	13					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						ATGTGAGACTGAAAGAGCTAA	0.328000													10	262					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17575701	17575701	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:17575701G>A	ENST00000375460.3	+	1	109	c.69G>A	c.(67-69)gtG>gtA	p.V23V		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	23					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGGCTGGCGTGGAGACCCTCG	0.612000													27	213					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54758770	54758770	+	Silent	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:54758770G>C	ENST00000450632.1	-	6	1133	c.1056C>G	c.(1054-1056)gcC>gcG	p.A352A	LILRB5_ENST00000449561.2_Silent_p.A361A|LILRB5_ENST00000345866.6_Silent_p.A261A|LILRB5_ENST00000316219.5_Silent_p.A361A			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	361	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	p.A361A(1)|p.A352A(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCGGGGGATGGGCTGCCCCCT	0.552000													30	43					0	0	1	0	0
TGFBR2	7048	broad.mit.edu	37	3	30713692	30713692	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:30713692G>A	ENST00000295754.5	+	4	1399	c.1017G>A	c.(1015-1017)cgG>cgA	p.R339R	TGFBR2_ENST00000359013.4_Silent_p.R364R	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	339	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ACCTGACGCGGCATGTCATCA	0.612000													4	341					0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36045932	36045932	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:36045932C>T	ENST00000262623.3	-	16	2401	c.2373G>A	c.(2371-2373)ttG>ttA	p.L791L		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	791					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TGTTCTTGGTCAATGTGTAGG	0.572000													5	381					0	0	1	0	0
RBM41	55285	broad.mit.edu	37	X	106310925	106310925	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:106310925T>A	ENST00000372487.1	-	7	1102		c.e7-2		RBM41_ENST00000372479.3_Splice_Site	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41								nucleotide binding|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						TCTCCTTATCTAAAAGAGAAA	0.308000													4	68					0	0	1	0	0
MFRP	83552	broad.mit.edu	37	11	119212284	119212284	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:119212284C>A	ENST00000555262.1	-	13	1873	c.1714G>T	c.(1714-1716)Gac>Tac	p.D572Y	MFRP_ENST00000530681.1_Missense_Mutation_p.D572Y|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000360167.4_Missense_Mutation_p.D454Y|MFRP_ENST00000449574.2_Missense_Mutation_p.D572Y	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein									p.D572Y(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GCTTCCAGGTCAGCTGCCTCT	0.662000													3	4					0.115264	0.116271	1	1	0
KRBA1	84626	broad.mit.edu	37	7	149418599	149418599	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:149418599G>A	ENST00000255992.10	+	5	838	c.439G>A	c.(439-441)Ggg>Agg	p.G147R	KRBA1_ENST00000319551.8_Missense_Mutation_p.G147R|KRBA1_ENST00000485033.2_Missense_Mutation_p.G147R|KRBA1_ENST00000479560.1_3'UTR	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	147										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AACTGGTGACGGGGTCCAGGG	0.637000													3	27					0	0	1	0	0
FMO5	2330	broad.mit.edu	37	1	146672922	146672922	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:146672922T>A	ENST00000254090.4	-	7	1383	c.995A>T	c.(994-996)tAt>tTt	p.Y332F	FMO5_ENST00000369272.3_Intron|FMO5_ENST00000441068.2_Missense_Mutation_p.Y332F|RP11-337C18.8_ENST00000607149.1_RNA	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	332						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	p.Y332F(2)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GTCAAAGCTATAGCCTGTGGC	0.438000													25	287					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20071504	20071504	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:20071504G>A	ENST00000245957.5	+	7	659	c.583G>A	c.(583-585)Gat>Aat	p.D195N	C20orf26_ENST00000377306.1_Missense_Mutation_p.D195N|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.D195N|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	195								p.D195N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AGACCATGACGATCTCATGCC	0.438000													37	1052					0	0	1	0	0
SLC25A17	10478	broad.mit.edu	37	22	41190586	41190586	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:41190586T>A	ENST00000435456.2	-	3	249		c.e3-2		SLC25A17_ENST00000544408.1_Splice_Site|SLC25A17_ENST00000491545.1_Splice_Site|SLC25A17_ENST00000542412.1_Intron	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17						fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						TCTCATCAACTACAAGACCAA	0.383000													4	175					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238285451	238285451	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:238285451G>A	ENST00000295550.4	-	7	3486	c.3034C>T	c.(3034-3036)Ctc>Ttc	p.L1012F	COL6A3_ENST00000392003.2_Missense_Mutation_p.L605F|COL6A3_ENST00000392004.3_Missense_Mutation_p.L806F|COL6A3_ENST00000353578.4_Missense_Mutation_p.L806F|COL6A3_ENST00000347401.3_Missense_Mutation_p.L811F|COL6A3_ENST00000346358.4_Missense_Mutation_p.L812F|COL6A3_ENST00000409809.1_Missense_Mutation_p.L806F|COL6A3_ENST00000472056.1_Missense_Mutation_p.L405F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1012	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GATTTTAAGAGATTCACTATC	0.493000													8	1041					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	G	A	rs146082308		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:7810767G>A	ENST00000315599.7	-	4	407	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000394161.5_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000394173.4_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.R129W(4)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCGGGTCAGCTCC	0.567000													7	603					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63000819	63000819	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:63000819G>C	ENST00000561311.1	+	20	2521	c.2291G>C	c.(2290-2292)aGt>aCt	p.S764T	TLN2_ENST00000306829.6_Missense_Mutation_p.S764T			Q9Y4G6	TLN2_HUMAN	talin 2	764					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.S764T(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACTACCGATAGTGAGCTCCTG	0.652000													28	46					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153915470	153915470	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:153915470C>T	ENST00000361217.4	-	3	872	c.454G>A	c.(454-456)Gag>Aag	p.E152K		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	152	MABP.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTGCCCCCTCTGCTGCCCGC	0.662000													10	58					0	0	1	0	0
CAST	831	broad.mit.edu	37	5	96101025	96101025	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:96101025T>A	ENST00000395813.1	+	26	2219	c.2033T>A	c.(2032-2034)gTa>gAa	p.V678E	CAST_ENST00000504465.1_Missense_Mutation_p.V523E|CAST_ENST00000508830.1_Missense_Mutation_p.V678E|CAST_ENST00000511049.1_Missense_Mutation_p.V580E|CAST_ENST00000395812.2_Missense_Mutation_p.V637E|CAST_ENST00000509903.1_Missense_Mutation_p.V560E|CAST_ENST00000508608.1_Missense_Mutation_p.V641E|CAST_ENST00000338252.3_Missense_Mutation_p.V582E|CAST_ENST00000511782.1_Missense_Mutation_p.V581E|CAST_ENST00000341926.3_Missense_Mutation_p.V595E|CAST_ENST00000508579.1_Missense_Mutation_p.V310E|ERAP1_ENST00000296754.3_Intron|CAST_ENST00000515663.1_Missense_Mutation_p.V318E|CAST_ENST00000510756.1_Missense_Mutation_p.V656E|CAST_ENST00000359176.4_Missense_Mutation_p.V659E|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000309190.5_Missense_Mutation_p.V573E|CAST_ENST00000325674.7_Missense_Mutation_p.V643E			P20810	ICAL_HUMAN	calpastatin	595							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		GAAGATAAAGTAAAGGTaaaa	0.348000													7	95					0	0	1	0	0
RASEF	158158	broad.mit.edu	37	9	85637266	85637266	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:85637266A>T	ENST00000376447.3	-	3	914	c.654T>A	c.(652-654)caT>caA	p.H218Q		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	218					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TCCGTGTCTTATGTTCTGCAG	0.493000													5	312					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102305092	102305092	+	RNA	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:102305092A>G	ENST00000561463.1	+	0	13138																											CATGAACACCATCAGCACAGC	0.632000													4	22					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143081369	143081369	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:143081369G>C	ENST00000367603.2	-	9	6798	c.6056C>G	c.(6055-6057)cCt>cGt	p.P2019R	HIVEP2_ENST00000012134.2_Missense_Mutation_p.P2019R|HIVEP2_ENST00000367604.1_Missense_Mutation_p.P2019R	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2019					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P2019R(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CATACAACTAGGTATGTCCAA	0.483000													349	247					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77327081	77327081	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:77327081G>A	ENST00000282849.5	-	20	3499	c.3081C>T	c.(3079-3081)ccC>ccT	p.P1027P		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1027	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACTGGCTCTCGGGGAGGGTTT	0.567000													22	232					0	0	1	0	0
WDR19	57728	broad.mit.edu	37	4	39196168	39196168	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:39196168C>T	ENST00000399820.3	+	5	449	c.295C>T	c.(295-297)Caa>Taa	p.Q99*	WDR19_ENST00000288634.7_Intron|WDR19_ENST00000506503.1_Nonsense_Mutation_p.Q99*	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	99					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TTACAGGGATCAAATGTCTTT	0.313000													3	20					0	0	1	0	0
HKR1	284459	broad.mit.edu	37	19	37854575	37854575	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:37854575G>A	ENST00000591471.1	+	9	2700	c.1059G>A	c.(1057-1059)caG>caA	p.Q353Q	HKR1_ENST00000589392.1_Silent_p.Q608Q|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000324411.4_Silent_p.Q626Q|HKR1_ENST00000544914.1_Silent_p.Q353Q|HKR1_ENST00000541583.2_Silent_p.Q565Q|HKR1_ENST00000392153.3_Silent_p.Q607Q			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	626					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTAGACACCAGAGGACACATT	0.517000													12	241					0	0	1	0	0
CHKB	1120	broad.mit.edu	37	22	51018846	51018846	+	Splice_Site	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:51018846C>T	ENST00000406938.2	-	6	895		c.e6-1		CHKB_ENST00000463053.1_Splice_Site	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta						phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		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)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	TAGTAACTTCCTACAGGGGTA	0.547000													13	101					0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61987236	61987236	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:61987236C>G	ENST00000450719.3	-	3	712	c.475G>C	c.(475-477)Gac>Cac	p.D159H	CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Missense_Mutation_p.Q106H|CSHL1_ENST00000438387.2_Missense_Mutation_p.Q85H|CSHL1_ENST00000309894.5_Missense_Mutation_p.Q168H|CSHL1_ENST00000346606.6_Missense_Mutation_p.Q74H|CSHL1_ENST00000561003.1_Missense_Mutation_p.D170H			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						GCTTGAGGGTCTGCCCAGTCA	0.547000													15	464					0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62676204	62676204	+	Silent	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:62676204T>A	ENST00000498273.1	+	4	2053	c.1758T>A	c.(1756-1758)ctT>ctA	p.L586L		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	586										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						TCACCAAACTTAAGAAAACAG	0.368000													6	125					0	0	1	0	0
CPSF4	10898	broad.mit.edu	37	7	99047957	99047957	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:99047957G>T	ENST00000436336.2	+	4	527	c.366G>T	c.(364-366)aaG>aaT	p.K122N	ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000471455.1_3'UTR|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000441580.1_Missense_Mutation_p.K69N|CPSF4_ENST00000451876.1_Intron|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000292476.5_Missense_Mutation_p.K122N	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	122					modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding	p.K122N(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCAAGATCAAGGACTGTCCTT	0.622000													18	58					4.63292e-17	4.88678e-17	1	1	0
PHF3	23469	broad.mit.edu	37	6	64389899	64389899	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:64389899A>T	ENST00000262043.3	+	3	584		c.e3-1		PHF3_ENST00000393387.1_Splice_Site|PHF3_ENST00000509330.1_Splice_Site			Q92576	PHF3_HUMAN	PHD finger protein 3						multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTTTTTTTCTAGTTGTTGGTC	0.308000													4	89					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151859400	151859400	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:151859400G>A	ENST00000355193.2	-	43	11480	c.11262C>T	c.(11260-11262)tcC>tcT	p.S3754S	KMT2C_ENST00000262189.6_Silent_p.S3754S					lysine (K)-specific methyltransferase 2C																		TCTGTGCTGAGGAGACAGGAC	0.493000													5	207					0	0	1	0	0
CD48	962	broad.mit.edu	37	1	160654785	160654785	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:160654785C>G	ENST00000368045.3	-	2	316	c.277G>C	c.(277-279)Gca>Cca	p.A93P	CD48_ENST00000368046.3_Missense_Mutation_p.A93P			P09326	CD48_HUMAN	CD48 molecule	93	Ig-like C2-type 1.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATGTACAGTGCGCCACTCTGA	0.423000													8	719					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105421825	105421825	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:105421825C>T	ENST00000333244.5	-	5	580	c.461G>A	c.(460-462)aGa>aAa	p.R154K		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	154	PDZ.					nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCACCTTCTCTCAAGTTAAA	0.582000													9	32					0	0	1	0	0
KBTBD7	84078	broad.mit.edu	37	13	41767977	41767977	+	Silent	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr13:41767977G>T	ENST00000379483.3	-	1	725	c.417C>A	c.(415-417)gcC>gcA	p.A139A		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	139							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GCTGCACATTGGCCTCACTGA	0.597000													8	77					2.32078e-09	2.41487e-09	1	1	0
NPAS3	64067	broad.mit.edu	37	14	33836390	33836390	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:33836390A>T	ENST00000548645.1	+	3	340		c.e3-1		NPAS3_ENST00000341321.4_Splice_Site|NPAS3_ENST00000551008.1_Splice_Site|NPAS3_ENST00000346562.2_Intron|NPAS3_ENST00000547068.1_Intron|NPAS3_ENST00000357798.5_Splice_Site|NPAS3_ENST00000551492.1_Intron|NPAS3_ENST00000356141.4_Splice_Site			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TTTTCTTTTAAGTTATAGGTG	0.368000													3	29					0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58520149	58520149	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:58520149G>A	ENST00000302819.5	-	3	552	c.261C>T	c.(259-261)atC>atT	p.I87I	ACOX2_ENST00000459701.2_Silent_p.I87I	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	87					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CTATCAACCGGATGTGGAATG	0.517000													14	186					0	0	1	0	0
CPNE5	57699	broad.mit.edu	37	6	36790836	36790836	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:36790836G>A	ENST00000244751.2	-	2	758	c.134C>T	c.(133-135)cCa>cTa	p.P45L		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	45	C2 1.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGACTTACGTGGGTCGGACTT	0.527000													7	334					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10356638	10356638	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:10356638A>T	ENST00000377086.1	+	20	1979		c.e20-1		KIF1B_ENST00000377083.1_Splice_Site|KIF1B_ENST00000263934.6_Splice_Site|KIF1B_ENST00000377093.4_Splice_Site|KIF1B_ENST00000377081.1_Splice_Site			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TGTTCCTCTTAGTTATCGTGA	0.433000													4	104					0	0	1	0	0
CXorf65	158830	broad.mit.edu	37	X	70323864	70323864	+	Silent	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:70323864G>C	ENST00000374251.4	-	6	572	c.525C>G	c.(523-525)ctC>ctG	p.L175L	CXorf65_ENST00000485951.1_5'UTR			A6NEN9	CX065_HUMAN	chromosome X open reading frame 65	175										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						TGGTTTTATTGAGTTGGCGAC	0.408000													5	77					0	0	1	0	0
NCOA5	57727	broad.mit.edu	37	20	44693847	44693847	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:44693847C>A	ENST00000290231.6	-	6	814	c.650G>T	c.(649-651)gGg>gTg	p.G217V		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	p.G217V(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CACCTTCCGCCCCACAGACTC	0.493000													177	374					8.07858e-61	8.65963e-61	1	1	0
LARP4	113251	broad.mit.edu	37	12	50869645	50869645	+	Nonstop_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:50869645T>A	ENST00000398473.2	+	16	2285	c.2173T>A	c.(2173-2175)Taa>Aaa	p.*725K	LARP4_ENST00000518444.1_Nonstop_Mutation_p.*724K|LARP4_ENST00000347328.5_Nonstop_Mutation_p.*654K|LARP4_ENST00000429001.3_Nonstop_Mutation_p.*731K|LARP4_ENST00000293618.8_Nonstop_Mutation_p.*654K	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	0							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ATCACCAAAGTAAAAAACAAC	0.448000													6	51					0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54963068	54963068	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:54963068C>T	ENST00000243052.3	+	4	764	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	PDE1B_ENST00000550620.1_Missense_Mutation_p.R90W|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.R69W	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	110					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						CCAGCAGGCCCGGGCCAAAGG	0.647000													4	202					0	0	1	0	0
IGKV1D-42	28892	broad.mit.edu	37	2	90229349	90229349	+	RNA	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:90229349T>C	ENST00000390278.2	+	0	189																											TAATTTAGCCTGGTATCTGCA	0.493000													4	181					0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148012533	148012533	+	Missense_Mutation	SNP	T	T	G	rs144977899		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:148012533T>G	ENST00000369219.1	-	12	1442	c.1426A>C	c.(1426-1428)Aag>Cag	p.K476Q				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5.					cytoplasm		p.E481D(1)|p.K476Q(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CCAACATGCTTTTCCTCCAAT	0.448000													15	3374					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7725011	7725011	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:7725011G>A	ENST00000303635.7	+	9	2611	c.2404G>A	c.(2404-2406)Gcg>Acg	p.A802T	CAMTA1_ENST00000439411.2_Missense_Mutation_p.A802T	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	802					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGACAGCACGGCGCTCTCACA	0.652000			T	WWTR1	epitheliod hemangioendothelioma								4	167					0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25044423	25044423	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:25044423G>A	ENST00000260600.5	-	19	3941	c.3090C>T	c.(3088-3090)atC>atT	p.I1030I	CENPO_ENST00000380834.2_3'UTR|CENPO_ENST00000473706.1_3'UTR|ADCY3_ENST00000405392.1_Silent_p.I617I	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1030					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					ACTGGTTGTTGATGTTGGTGA	0.627000													4	207					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151078337	151078337	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:151078337C>T	ENST00000474524.1	+	19	2834	c.2796C>T	c.(2794-2796)ctC>ctT	p.L932L	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Silent_p.L792L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	932					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAGCCTACCTCTATGATCTCT	0.423000													39	465					0	0	1	0	0
ALG10B	144245	broad.mit.edu	37	12	38714410	38714410	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:38714410G>A	ENST00000308742.4	+	3	1133	c.817G>A	c.(817-819)Gga>Aga	p.G273R	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	273					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AGTTAATGGTGGAATTGTTAT	0.353000													8	246					0	0	1	0	0
HIST1H2AK	8330	broad.mit.edu	37	6	27805883	27805883	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:27805883T>G	ENST00000330180.2	-	1	234	c.235A>C	c.(235-237)Atc>Ctc	p.I79L		NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	79					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	p.I79L(1)		breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						CGCGGGATGATGCGGGTCTTC	0.627000													72	54					0	0	1	0	0
C14orf93	60686	broad.mit.edu	37	14	23468074	23468074	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:23468074C>A	ENST00000299088.6	-	2	588	c.159G>T	c.(157-159)ttG>ttT	p.L53F	C14orf93_ENST00000406429.2_Missense_Mutation_p.L53F|C14orf93_ENST00000397377.1_Intron|C14orf93_ENST00000397379.3_Missense_Mutation_p.L53F|C14orf93_ENST00000397382.4_Missense_Mutation_p.L53F|C14orf93_ENST00000341470.4_Missense_Mutation_p.L53F|RP11-298I3.4_ENST00000556503.1_RNA	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	53						extracellular region				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		TCTGAACAGCCAAGCCATGTC	0.582000													4	68					2.48551e-13	2.60386e-13	1	1	0
SYT17	51760	broad.mit.edu	37	16	19191802	19191802	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:19191802G>T	ENST00000562034.1	+	2	3887	c.89G>T	c.(88-90)gGa>gTa	p.G30V	SYT17_ENST00000562711.2_Missense_Mutation_p.G87V|SYT17_ENST00000568115.1_Missense_Mutation_p.G30V|SYT17_ENST00000355377.2_Missense_Mutation_p.G91V			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	91	Cys-rich.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						TCCCCGGATGGAAGACGCTCG	0.582000											OREG0023658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	101					0.000157383	0.00016194	1	1	0
GGA1	26088	broad.mit.edu	37	22	38010280	38010280	+	Splice_Site	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:38010280G>A	ENST00000343632.4	+	2	513	c.128_splice	c.e2+1	p.G43_splice	GGA1_ENST00000414350.3_Splice_Site_p.G43_splice|GGA1_ENST00000405147.3_Splice_Site_p.G43_splice|GGA1_ENST00000381756.5_Splice_Site_p.G43_splice|GGA1_ENST00000337437.4_Splice_Site_p.G43_splice|GGA1_ENST00000325180.8_Splice_Site_p.G43_splice|GGA1_ENST00000406772.1_5'UTR	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	43	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	p.G43R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GGACTTTGAGGGGTAGGTGGC	0.592000													10	24					0	0	1	0	0
KLHL7	55975	broad.mit.edu	37	7	23180390	23180390	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:23180390A>T	ENST00000322231.7	+	6	869	c.379A>T	c.(379-381)Ata>Tta	p.I127L	KLHL7_ENST00000409689.1_Missense_Mutation_p.I101L|KLHL7_ENST00000545443.1_Missense_Mutation_p.I127L|KLHL7_ENST00000542558.1_5'UTR|KLHL7_ENST00000539124.1_Missense_Mutation_p.I73L|KLHL7_ENST00000479288.1_3'UTR|KLHL7_ENST00000339077.4_Missense_Mutation_p.I149L			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	149						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTGTTTAGGTATAAGTGTGCT	0.318000													4	85					0	0	1	0	0
KCNJ10	3766	broad.mit.edu	37	1	160011814	160011814	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:160011814G>A	ENST00000368089.3	-	2	735	c.509C>T	c.(508-510)gCc>gTc	p.A170V	KCNJ10_ENST00000509700.1_5'UTR	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	170						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTGGGCCGGGCAATCTTCGC	0.547000													6	854					0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20691896	20691896	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:20691896A>T	ENST00000315519.2	+	1	106	c.28A>T	c.(28-30)Act>Tct	p.T10S		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TTCTTTGGTTACTTCTGTTTT	0.378000													5	84					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25367255	25367255	+	Silent	SNP	C	C	T	rs141654694		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr13:25367255C>T	ENST00000255324.5	+	10	1063	c.1011C>T	c.(1009-1011)taC>taT	p.Y337Y	RNF17_ENST00000381921.1_Silent_p.Y337Y|RNF17_ENST00000255325.5_Silent_p.Y338Y|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	337					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.Y337Y(2)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTTCTTGTTACGATACATACC	0.348000													5	320					0	0	1	0	0
MRGPRD	116512	broad.mit.edu	37	11	68747926	68747926	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:68747926C>G	ENST00000309106.3	-	1	529	c.530G>C	c.(529-531)aGg>aCg	p.R177T		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	177						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R177M(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CATGTCCACCCTGAAGCACCG	0.562000													5	65					0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32197563	32197563	+	Missense_Mutation	SNP	C	C	T	rs150296370		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:32197563C>T	ENST00000375250.5	-	3	462	c.221G>A	c.(220-222)cGc>cAc	p.R74H	ARHGAP12_ENST00000375245.4_Missense_Mutation_p.R74H|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.R74H|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.R74H|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.R74H	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	74	SH3.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GAGAGCTTTGCGCGTGACCTC	0.453000													3	116					0	0	1	0	0
LHX4	89884	broad.mit.edu	37	1	180243581	180243581	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:180243581G>A	ENST00000263726.2	+	6	1284	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E	RP5-1180C10.2_ENST00000415414.1_RNA|RP5-1180C10.2_ENST00000440959.2_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	347						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GCAGGGCAGGGAGTAAGCCAG	0.572000													70	1027					0	0	1	0	0
H1F0	3005	broad.mit.edu	37	22	38201974	38201974	+	Silent	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:38201974C>A	ENST00000340857.2	+	1	861	c.423C>A	c.(421-423)acC>acA	p.T141T		NM_005318.3	NP_005309.1	P07305	H10_HUMAN	H1 histone family, member 0	141					DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly	actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome	DNA binding	p.T141T(1)		cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7	Melanoma(58;0.045)					CCAAAGCCACCCCGGTCAAGA	0.532000													17	27					0.575678	0.578181	1	1	0
DENND2C	163259	broad.mit.edu	37	1	115137133	115137133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:115137133G>A	ENST00000393274.1	-	18	3017	c.2392C>T	c.(2392-2394)Cga>Tga	p.R798*	DENND2C_ENST00000393276.3_Nonsense_Mutation_p.R741*|DENND2C_ENST00000393277.1_Nonsense_Mutation_p.R686*|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	798								p.R741*(1)		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)		ATTTCATTTCGTTCTTCCAAA	0.358000													25	119					0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114824336	114824336	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:114824336G>A	ENST00000315366.7	-	2	1760	c.894C>T	c.(892-894)tcC>tcT	p.S298S	ARSJ_ENST00000541197.1_Silent_p.S298S	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	298						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CATCTAAGCAGGAAAGCATGG	0.418000													19	131					0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9498708	9498708	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:9498708C>T	ENST00000246070.2	+	5	989	c.497C>T	c.(496-498)tCg>tTg	p.S166L	LAMP5_ENST00000427562.2_Missense_Mutation_p.S122L	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	166						integral to membrane											ACAGCCAACTCGCACCACCTC	0.532000													4	163					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109371542	109371542	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:109371542T>A	ENST00000283195.6	+	16	2508		c.e16+2			NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGTTACAAGGTAAACAGGAAA	0.299000													5	181					0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65686806	65686806	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:65686806T>G	ENST00000352385.2	-	9	1866	c.1657A>C	c.(1657-1659)Agc>Cgc	p.S553R		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	553	Fibronectin type-III 2.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TTGCTCAGGCTGGGGGGCAGG	0.597000													5	130					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25492361	25492361	+	RNA	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:25492361C>T	ENST00000453082.2	+	0	2822					NR_003343.1																						CAGTGGCCATCAGCCTGTTGC	0.607000													3	34					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3962582	3962582	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:3962582T>A	ENST00000381638.2	-	31	5010	c.4886A>T	c.(4885-4887)tAt>tTt	p.Y1629F		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1629							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTGTCCAAAATAACTAGAAAC	0.348000													4	115					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89838183	89838183	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:89838183C>T	ENST00000389301.3	-	23	2084	c.2054G>A	c.(2053-2055)aGg>aAg	p.R685K	FANCA_ENST00000567284.2_5'UTR|FANCA_ENST00000568369.1_Missense_Mutation_p.R685K	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	685					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	p.R685K(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CAGGACAGCCCTCAGTCTTTC	0.517000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				50	147					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3229667	3229667	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:3229667T>A	ENST00000217939.6	-	7	6733		c.e7-2			NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5							extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTATCAAAACTACAGAAAAAA	0.423000													5	47					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41798514	41798514	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:41798514A>T	ENST00000396930.3	-	16	3428	c.2885T>A	c.(2884-2886)tTa>tAa	p.L962*	KAT6A_ENST00000406337.1_Nonsense_Mutation_p.L962*|KAT6A_ENST00000265713.2_Nonsense_Mutation_p.L962*	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	962					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										TCCTTCTGTTAATCTGCACTT	0.592000													10	1673					0	0	1	0	0
TRAF2	7186	broad.mit.edu	37	9	139802586	139802586	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:139802586G>T	ENST00000359662.3	+	5	632	c.587G>T	c.(586-588)cGc>cTc	p.R196L	TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000247668.2_Missense_Mutation_p.R144L|TRAF2_ENST00000536468.1_Missense_Mutation_p.R144L			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	144					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GGCCTGGTCCGCCTTGGTGAA	0.642000													5	59					0.0215528	0.0218843	1	1	0
RHOBTB3	22836	broad.mit.edu	37	5	95087941	95087941	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:95087941A>T	ENST00000379982.3	+	5	1078		c.e5-1		GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3						retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		TTCCTGTTTTAGTTGGAGTAT	0.303000													6	57					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35871222	35871222	+	Silent	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:35871222G>T	ENST00000303115.3	+	4	573	c.444G>T	c.(442-444)gtG>gtT	p.V148V	IL7R_ENST00000343305.4_Silent_p.V148V|IL7R_ENST00000506850.1_Silent_p.V148V	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	148	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.V148V(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ACTTTGTGGTGACATTTAATA	0.388000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						27	69					6.38683e-12	6.67583e-12	1	1	0
TUBA3E	112714	broad.mit.edu	37	2	130952659	130952659	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:130952659C>T	ENST00000312988.7	-	3	468	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	123					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.R123H(1)		endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TACCAGTTTGCGGATCCGGTC	0.498000													4	474					0	0	1	0	0
PNMA1	9240	broad.mit.edu	37	14	74179820	74179820	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:74179820C>T	ENST00000316836.3	-	1	1308	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	175					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		tcaaaggtttcctctccaggc	0.498000													4	58					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30521685	30521685	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:30521685C>T	ENST00000356798.6	+	22	2692	c.2512C>T	c.(2512-2514)Cat>Tat	p.H838Y	ITGAL_ENST00000358164.5_Missense_Mutation_p.H754Y|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	838					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CTCCCAGCCCCATAGCCAGAT	0.562000													13	412					0	0	1	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140801364	140801364	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:140801364C>T	ENST00000398587.2	+	1	603	c.570C>T	c.(568-570)gcC>gcT	p.A190A	PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Silent_p.A190A|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGATGGGGCCAAGAATCCAG	0.552000													35	50					0	0	1	0	0
AAMP	14	broad.mit.edu	37	2	219131621	219131621	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:219131621C>T	ENST00000248450.4	-	4	653	c.483G>A	c.(481-483)tgG>tgA	p.W161*	AAMP_ENST00000420660.1_Nonsense_Mutation_p.W142*|AAMP_ENST00000444053.1_Nonsense_Mutation_p.W162*			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	161					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTCCACCTGCCACACTTTCA	0.537000													3	79					0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106156899	106156899	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:106156899G>A	ENST00000513237.1	+	3	2660	c.1863G>A	c.(1861-1863)atG>atA	p.M621I	TET2_ENST00000540549.1_Missense_Mutation_p.M600I|TET2_ENST00000413648.2_Missense_Mutation_p.M600I|TET2_ENST00000305737.2_Missense_Mutation_p.M600I|TET2_ENST00000394764.1_Missense_Mutation_p.M600I|TET2_ENST00000545826.1_Missense_Mutation_p.M600I|TET2_ENST00000380013.4_Missense_Mutation_p.M600I			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	600	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CCAATCAAATGACCTCCAAAC	0.468000			"""Mis N, F"""		MDS								4	92					0	0	1	0	0
DENND2D	79961	broad.mit.edu	37	1	111734916	111734916	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:111734916G>T	ENST00000357640.4	-	8	1047	c.818C>A	c.(817-819)gCt>gAt	p.A273D	DENND2D_ENST00000369752.5_Missense_Mutation_p.A270D	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	273	DENN.							p.A273D(1)|p.A273E(1)		breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TGCGGCAGCAGCATGGATGCA	0.627000													45	91					1.56989e-16	1.65214e-16	1	1	0
RYR2	6262	broad.mit.edu	37	1	237948244	237948244	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:237948244C>T	ENST00000366574.2	+	90	13549	c.13232C>T	c.(13231-13233)cCc>cTc	p.P4411L	RYR2_ENST00000360064.6_Missense_Mutation_p.P4417L|RYR2_ENST00000542537.1_Missense_Mutation_p.P4395L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4411					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AACCCAGTCCCCATGCCTGAG	0.448000													6	46					0	0	1	0	0
DENND2D	79961	broad.mit.edu	37	1	111734915	111734915	+	Silent	SNP	A	A	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:111734915A>C	ENST00000357640.4	-	8	1048	c.819T>G	c.(817-819)gcT>gcG	p.A273A	DENND2D_ENST00000369752.5_Silent_p.A270A	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	273	DENN.							p.A273E(1)|p.A273A(1)		breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		GTGCGGCAGCAGCATGGATGC	0.632000													44	94					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17252757	17252757	+	Missense_Mutation	SNP	G	G	C	rs147074504	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:17252757G>C	ENST00000261381.6	-	6	1383	c.1299C>G	c.(1297-1299)gaC>gaG	p.D433E		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	433					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCACCAACTGGTCATTTGTCC	0.498000													5	239					0	0	1	0	0
TBX3	6926	broad.mit.edu	37	12	115120913	115120913	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:115120913G>A	ENST00000349155.2	-	1	1056	c.93C>T	c.(91-93)agC>agT	p.S31S	TBX3_ENST00000257566.3_Silent_p.S31S	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	31					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CCAGCACCGCGCTCATGGCGA	0.682000											OREG0022153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	76					0	0	1	0	0
OSBPL2	9885	broad.mit.edu	37	20	60861652	60861652	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:60861652G>A	ENST00000313733.3	+	11	1212	c.1010G>A	c.(1009-1011)gGg>gAg	p.G337E	OSBPL2_ENST00000439951.2_Missense_Mutation_p.G245E|OSBPL2_ENST00000358053.2_Missense_Mutation_p.G325E	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	337					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)			GAAGACTCCGGGAAGGCTGAC	0.632000													32	107					0	0	1	0	0
VPS26A	9559	broad.mit.edu	37	10	70917845	70917845	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:70917845G>A	ENST00000373382.1	+	6	1082	c.429G>A	c.(427-429)ttG>ttA	p.L143L	VPS26A_ENST00000490696.1_Intron|VPS26A_ENST00000489794.1_Silent_p.L118L|VPS26A_ENST00000395098.1_Silent_p.L143L|VPS26A_ENST00000546041.1_Silent_p.L126L|VPS26A_ENST00000263559.6_Silent_p.L143L|VPS26A_ENST00000541711.1_Silent_p.L32L			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	143					retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						TGACAGATTTGGTAAAAGAGT	0.338000													4	37					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70605038	70605038	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:70605038C>T	ENST00000302516.5	+	25	3660	c.3449C>T	c.(3448-3450)tCt>tTt	p.S1150F		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1150					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CACCTGCGGTCTGAACATCCC	0.498000													14	353					0	0	1	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	46000292	46000292	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:46000292G>A	ENST00000400372.1	-	1	189	c.164C>T	c.(163-165)gCc>gTc	p.A55V	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	55	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GGGCTCACAGGCCGCCTGGCA	0.721000													10	197					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95182724	95182724	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:95182724G>A	ENST00000027335.3	-	9	1091	c.967C>T	c.(967-969)Ccg>Tcg	p.P323S	CDH17_ENST00000450165.2_Missense_Mutation_p.P323S|CDH17_ENST00000441892.2_Intron	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	323	Cadherin 3.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			ATTTCCAGCGGATATGAAAGT	0.418000													4	302					0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170079	90170079	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:90170079G>A	ENST00000333209.3	-	2	1701	c.1183C>T	c.(1183-1185)Cag>Tag	p.Q395*		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	395										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GCAGCTGCCTGAATGTGCACC	0.557000													9	121					0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119686074	119686074	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:119686074T>A	ENST00000379735.5	-	10	1455		c.e10-2		SEC24D_ENST00000511481.1_Splice_Site|SEC24D_ENST00000505134.1_Splice_Site|SEC24D_ENST00000419654.2_Splice_Site|SEC24D_ENST00000280551.6_Splice_Site	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D						COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						ATGGTGGAACTAATAAAAACA	0.323000													5	98					0	0	1	0	0
SMYD3	64754	broad.mit.edu	37	1	246498749	246498749	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:246498749C>T	ENST00000490107.1	-	3	295	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	SMYD3_ENST00000388985.4_Missense_Mutation_p.E86K|SMYD3_ENST00000403792.3_Missense_Mutation_p.E86K|SMYD3_ENST00000541742.1_Missense_Mutation_p.E27K	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	86						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		CATTTGCATTCCCGCTTGTGG	0.393000													16	155					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47884655	47884655	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:47884655G>A	ENST00000289672.2	-	33	5225	c.5175C>T	c.(5173-5175)ttC>ttT	p.F1725F		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1725	GPS.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTAGGAGAGCGAATGCCGCGA	0.458000													4	89					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121659283	121659283	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:121659283C>A	ENST00000489711.1	+	21	2349	c.1961C>A	c.(1960-1962)gCa>gAa	p.A654E	SLC15A2_ENST00000295605.2_Missense_Mutation_p.A623E	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	654					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TTGACAATTGCAGTTGGGAAT	0.478000													19	371					1.55795e-14	1.63584e-14	1	1	0
DAP3	7818	broad.mit.edu	37	1	155695235	155695235	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:155695235C>T	ENST00000368336.5	+	5	457	c.333C>T	c.(331-333)taC>taT	p.Y111Y	MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000343043.3_Silent_p.Y111Y|DAP3_ENST00000421487.2_Silent_p.Y77Y|DAP3_ENST00000535183.1_Silent_p.Y70Y|DAP3_ENST00000471214.1_3'UTR|MSTO1_ENST00000452804.2_Intron	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	111					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TTCTGCATTACCTGAAAAACA	0.453000													76	366					0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:12501446T>C	ENST00000419318.1	-	4	2419	c.1670A>G	c.(1669-1671)gAa>gGa	p.E557G	ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413000													4	237					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34130561	34130561	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:34130561C>T	ENST00000389232.4	+	89	12450	c.12380C>T	c.(12379-12381)gCg>gTg	p.A4127V	RYR3_ENST00000415757.3_Missense_Mutation_p.A4122V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4127					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTAGAAATTGCGGGTGAAGAG	0.483000													4	262					0	0	1	0	0
KLHL7	55975	broad.mit.edu	37	7	23180386	23180386	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:23180386A>T	ENST00000322231.7	+	6	866		c.e6-1		KLHL7_ENST00000409689.1_Splice_Site|KLHL7_ENST00000545443.1_Splice_Site|KLHL7_ENST00000542558.1_Splice_Site|KLHL7_ENST00000539124.1_Splice_Site|KLHL7_ENST00000479288.1_Splice_Site|KLHL7_ENST00000339077.4_Splice_Site			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7							Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCTGTGTTTAGGTATAAGTG	0.318000													5	81					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023145	76023145	+	Silent	SNP	C	C	T	rs148968530		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:76023145C>T	ENST00000393004.2	-	5	2624	c.2403G>A	c.(2401-2403)acG>acA	p.T801T	FILIP1_ENST00000370020.1_Silent_p.T702T|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Silent_p.T801T			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	801										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTCCAGTTGACGTCACAGGAA	0.473000													5	302					0	0	1	0	0
HOXC6	3223	broad.mit.edu	37	12	54422672	54422672	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:54422672T>C	ENST00000394331.3	+	2	1831	c.121T>C	c.(121-123)Tac>Cac	p.Y41H	HOXC4_ENST00000303406.4_Intron|HOXC6_ENST00000243108.4_Missense_Mutation_p.Y123H|HOXC5_ENST00000512206.1_Intron	NM_153693.3	NP_710160.1	P09630	HXC6_HUMAN	homeobox C6	123					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.Y123H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TATCCAGATTTACCCCTGGAT	0.468000													48	102					0	0	1	0	0
PNMA2	10687	broad.mit.edu	37	8	26366047	26366047	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:26366047G>A	ENST00000522362.2	-	3	1119	c.225C>T	c.(223-225)gtC>gtT	p.V75V		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	75					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		gaatggccgagacatcagtat	0.478000													8	134					0	0	1	0	0
PPWD1	23398	broad.mit.edu	37	5	64859225	64859225	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:64859225A>T	ENST00000261308.5	+	1	160	c.88A>T	c.(88-90)Aga>Tga	p.R30*	PPWD1_ENST00000538977.1_5'UTR|PPWD1_ENST00000535264.1_5'UTR	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	30					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	p.R30*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		ACTCAGCGAAAGAGAGCTGGC	0.567000													70	98					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123842630	123842630	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:123842630C>T	ENST00000369005.1	+	4	955	c.615C>T	c.(613-615)ctC>ctT	p.L205L	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Silent_p.L205L|TACC2_ENST00000515273.1_Silent_p.L205L|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.L205L|TACC2_ENST00000334433.3_Silent_p.L205L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	205						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGTACCCCTCAGAGAGCCAA	0.577000													5	33					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36754845	36754845	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:36754845C>T	ENST00000354618.5	+	5	1449	c.1225C>T	c.(1225-1227)Ccc>Tcc	p.P409S	THRAP3_ENST00000469141.2_Missense_Mutation_p.P409S	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	409					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGTCAGTCTCCCAAAAGGTA	0.448000			T	USP6	aneurysmal bone cysts								6	221					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90125915	90125915	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:90125915A>T	ENST00000268138.7	+	2	759		c.e2-1		TICRR_ENST00000560985.1_Splice_Site|RP11-429B14.1_ENST00000559041.1_RNA					TOPBP1-interacting checkpoint and replication regulator																		GTTTTATTTTAGTTGTGGGAA	0.398000													5	115					0	0	1	0	0
RCAN1	1827	broad.mit.edu	37	21	35893901	35893901	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:35893901A>T	ENST00000481448.1	-	4	938	c.452T>A	c.(451-453)cTg>cAg	p.L151Q	RCAN1_ENST00000313806.4_Missense_Mutation_p.L161Q|RCAN1_ENST00000443408.2_Missense_Mutation_p.L26Q|RCAN1_ENST00000487990.1_Missense_Mutation_p.L26Q|RCAN1_ENST00000482533.1_Missense_Mutation_p.L26Q|RCAN1_ENST00000381135.3_Missense_Mutation_p.L151Q|RCAN1_ENST00000399272.1_Missense_Mutation_p.L80Q|RCAN1_ENST00000381132.2_Missense_Mutation_p.L106Q|RCAN1_ENST00000489903.1_5'UTR			P53805	RCAN1_HUMAN	regulator of calcineurin 1	161					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.L106Q(1)|p.L161Q(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						AGGGGAGATCAGAAACTGCTT	0.512000													6	23					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16284071	16284071	+	Missense_Mutation	SNP	C	C	T	rs140045277		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:16284071C>T	ENST00000205557.7	-	12	1614	c.1585G>A	c.(1585-1587)Ggc>Agc	p.G529S	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	529	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.G529S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		AAGAGGAGGCCGGAGGTCCGC	0.592000													43	45					0	0	1	0	0
PREP	5550	broad.mit.edu	37	6	105800954	105800954	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													7	79					0	0	1	0	0
DNAJC1	64215	broad.mit.edu	37	10	22048498	22048498	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:22048498G>A	ENST00000376980.3	-	11	1487	c.1197C>T	c.(1195-1197)ccC>ccT	p.P399P	DNAJC1_ENST00000483085.1_5'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	399					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				CCGTTTTGATGGGCCTGGAAT	0.567000													7	123					0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74442420	74442420	+	Silent	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:74442420A>T	ENST00000307439.5	-	9	1044	c.750T>A	c.(748-750)atT>atA	p.I250I	RASSF6_ENST00000335049.5_Silent_p.I238I|RASSF6_ENST00000342081.3_Silent_p.I282I|RASSF6_ENST00000395777.2_Silent_p.I216I	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	282	Ras-associating.				apoptosis|signal transduction		protein binding	p.I250I(1)|p.I282I(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GCAGTAGCGGAATGTCTGTCT	0.403000													201	260					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130897742	130897742	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:130897742T>A	ENST00000509018.1	-	5	487		c.e5-2		RAPGEF6_ENST00000307984.5_Splice_Site|FNIP1_ENST00000514667.1_Splice_Site|RAPGEF6_ENST00000503398.2_Intron|RAPGEF6_ENST00000308008.6_Splice_Site|RAPGEF6_ENST00000510071.1_Splice_Site|RAPGEF6_ENST00000507093.1_Splice_Site|RAPGEF6_ENST00000296859.6_Splice_Site	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6						Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TTACCAAAACTATAAAAACAG	0.284000													4	62					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51084867	51084867	+	Silent	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:51084867T>C	ENST00000301180.5	+	13	1621	c.1587T>C	c.(1585-1587)gtT>gtC	p.V529V		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	529						nucleus	catalytic activity|transcription factor binding	p.V529V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TAATGGGAGTTACAGTATCCC	0.408000													127	133					0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109928871	109928871	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:109928871G>A	ENST00000342494.3	+	9	1247	c.652G>A	c.(652-654)Gca>Aca	p.A218T	UBE3B_ENST00000537063.1_3'UTR|UBE3B_ENST00000540230.1_3'UTR|UBE3B_ENST00000434735.2_Missense_Mutation_p.A218T|UBE3B_ENST00000280774.5_Missense_Mutation_p.A218T	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	218					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CCGTGGCCTGGCAAGACCCCG	0.388000													4	126					0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45905190	45905190	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:45905190G>A	ENST00000311275.7	-	11	1541	c.1288C>T	c.(1288-1290)Ccg>Tcg	p.P430S	ZMYND8_ENST00000471951.2_Missense_Mutation_p.P450S|ZMYND8_ENST00000540497.1_Missense_Mutation_p.P425S|ZMYND8_ENST00000372023.3_Missense_Mutation_p.P425S|ZMYND8_ENST00000446994.2_Missense_Mutation_p.P367S|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P430S|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P450S|ZMYND8_ENST00000458360.2_Missense_Mutation_p.P425S|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P430S|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P457S|ZMYND8_ENST00000360911.3_Missense_Mutation_p.P425S|ZMYND8_ENST00000396281.4_Missense_Mutation_p.P430S|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P450S|ZMYND8_ENST00000468376.2_5'UTR			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	430							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GGGGAGCGCGGCATATCCGAC	0.597000													4	282					0	0	1	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158562	26158562	+	Silent	SNP	C	C	T	rs141600148	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:26158562C>T	ENST00000289316.2	+	1	189	c.165C>T	c.(163-165)atC>atT	p.I55I	HIST1H2BD_ENST00000377777.4_Silent_p.I55I	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	55					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						ACACCGGCATCTCTTCCAAGG	0.562000													36	675					0	0	1	0	0
CXADR	1525	broad.mit.edu	37	21	18937925	18937925	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:18937925C>T	ENST00000284878.7	+	7	1761	c.1013C>T	c.(1012-1014)gCt>gTt	p.A338V	CXADR_ENST00000400166.1_Silent_p.L251L|CXADR_ENST00000400169.1_Missense_Mutation_p.A338V|CXADR_ENST00000400165.1_Silent_p.L199L|CXADR_ENST00000306618.10_Missense_Mutation_p.A297V	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	338					blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		CTCCCACCTGCTAAGGTAGCT	0.473000													7	291					0	0	1	0	0
KBTBD7	84078	broad.mit.edu	37	13	41767064	41767064	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr13:41767064C>T	ENST00000379483.3	-	1	1638	c.1330G>A	c.(1330-1332)Gac>Aac	p.D444N		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	444							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GTAATAGGGTCTCGTCCCCCC	0.483000													62	85					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152557951	152557951	+	Splice_Site	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:152557951C>T	ENST00000367255.5	-	109	20801		c.e109+1		SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTAACACCAACCTGGTAGAGT	0.438000										HNSCC(10;0.0054)			27	55					0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37453538	37453538	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr13:37453538G>A	ENST00000379826.4	-	2	631	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	SMAD9_ENST00000350148.5_Missense_Mutation_p.R97C|SMAD9_ENST00000399275.2_Missense_Mutation_p.R97C	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	97	MH1.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	p.R97C(2)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TCCGGCCAGCGCCACACGCGA	0.612000													22	26					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25453255	25453255	+	RNA	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:25453255T>G	ENST00000424208.1	+	0	2384				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-21_ENST00000362963.1_RNA	NR_003305.1																						ACCTTATATTTTCTGAAGAGA	0.527000													3	153					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32833840	32833840	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:32833840T>A	ENST00000397452.1	-	8	766		c.e8-2		BPIFC_ENST00000432451.2_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C							extracellular region	lipopolysaccharide binding|phospholipid binding										TGGTTAAAACTAAATAACCAA	0.303000													4	77					0	0	1	0	0
S100A14	57402	broad.mit.edu	37	1	153587436	153587436	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:153587436C>A	ENST00000368702.1	-	5	512	c.240G>T	c.(238-240)gaG>gaT	p.E80D	S100A14_ENST00000368700.3_5'UTR|S100A14_ENST00000344616.2_Missense_Mutation_p.E80D|S100A14_ENST00000476873.1_Missense_Mutation_p.E80D|S100A14_ENST00000368701.1_Missense_Mutation_p.E80D			Q9HCY8	S10AE_HUMAN	S100 calcium binding protein A14	80					calcium ion homeostasis|defense response to bacterium|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|toll-like receptor 4 signaling pathway	cell junction|microtubule cytoskeleton|perinuclear region of cytoplasm	calcium ion binding|chemokine receptor binding	p.E80D(1)		kidney(2)|large_intestine(1)|lung(1)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACTCCTGAACTCCAGTTTAG	0.557000													10	18					6.40141e-05	6.60145e-05	1	1	0
OR4K5	79317	broad.mit.edu	37	14	20388869	20388869	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:20388869A>T	ENST00000315915.4	+	1	129	c.104A>T	c.(103-105)tAt>tTt	p.Y35F		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTGTGTTGTATACAGTCATT	0.403000													9	263					0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106156759	106156759	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:106156759C>T	ENST00000513237.1	+	3	2520	c.1723C>T	c.(1723-1725)Ccc>Tcc	p.P575S	TET2_ENST00000540549.1_Missense_Mutation_p.P554S|TET2_ENST00000413648.2_Missense_Mutation_p.P554S|TET2_ENST00000305737.2_Missense_Mutation_p.P554S|TET2_ENST00000394764.1_Missense_Mutation_p.P554S|TET2_ENST00000545826.1_Missense_Mutation_p.P554S|TET2_ENST00000380013.4_Missense_Mutation_p.P554S			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	554					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGATCTTGTGCCCCCAACACA	0.488000			"""Mis N, F"""		MDS								4	234					0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24651164	24651164	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:24651164T>G	ENST00000354464.6	-	26	2980	c.2804A>C	c.(2803-2805)cAg>cCg	p.Q935P	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	935					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	p.Q935P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		AGGATACTCCTGGGCAGGGTG	0.652000													26	12					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122448	12122448	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:12122448C>T	ENST00000379388.2	+	4	2752	c.2420C>T	c.(2419-2421)tCt>tTt	p.S807F		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	807					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGTTCAAGCTCTGATATACCG	0.388000													14	222					0	0	1	0	0
SMYD3	64754	broad.mit.edu	37	1	246498745	246498745	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:246498745C>T	ENST00000490107.1	-	3	299	c.83G>A	c.(82-84)tGc>tAc	p.C28Y	SMYD3_ENST00000388985.4_Missense_Mutation_p.C87Y|SMYD3_ENST00000403792.3_Missense_Mutation_p.C87Y|SMYD3_ENST00000541742.1_Missense_Mutation_p.C28Y	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	87						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		AAGGCATTTGCATTCCCGCTT	0.388000													16	161					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144098145	144098145	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:144098145G>C	ENST00000467773.1	-	4	837	c.838C>G	c.(838-840)Cgc>Ggc	p.R280G	NOBOX_ENST00000223140.5_Missense_Mutation_p.R195G|NOBOX_ENST00000483238.1_Missense_Mutation_p.R280G	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	280					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	p.R280G(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TTACCTGAGCGGTATAGGGTT	0.542000													12	24					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66398378	66398378	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:66398378C>T	ENST00000404260.3	+	9	1402	c.1094C>T	c.(1093-1095)cCc>cTc	p.P365L	MAST4_ENST00000261569.7_Missense_Mutation_p.P168L|MAST4_ENST00000403625.2_Missense_Mutation_p.P362L|MAST4_ENST00000490016.2_Missense_Mutation_p.P173L|MAST4_ENST00000403666.1_Missense_Mutation_p.P173L|MAST4_ENST00000405643.1_Missense_Mutation_p.P183L			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	365						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GGACGTTCTCCCGCCTGCTGT	0.378000													5	211					0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10786630	10786630	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:10786630A>C	ENST00000075503.3	-	4	666	c.146T>G	c.(145-147)aTc>aGc	p.I49S		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	49						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						TTGTTCTCTGATAAAAAGCCA	0.453000										HNSCC(73;0.22)			10	1334					0	0	1	0	0
HINFP	25988	broad.mit.edu	37	11	119001499	119001499	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:119001499C>T	ENST00000350777.2	+	3	309	c.246C>T	c.(244-246)ctC>ctT	p.L82L	HINFP_ENST00000527354.1_3'UTR|HINFP_ENST00000527410.1_Silent_p.L82L	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	82					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CTGCTGACCTCATCCGCCATG	0.527000													10	247					0	0	1	0	0
MPPED1	758	broad.mit.edu	37	22	43870629	43870629	+	Silent	SNP	C	C	T	rs139800936	by1000genomes	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:43870629C>T	ENST00000417669.1	+	4	864	c.420C>T	c.(418-420)taC>taT	p.Y140Y	MPPED1_ENST00000439548.1_5'UTR|MPPED1_ENST00000542779.1_Silent_p.Y140Y|MPPED1_ENST00000538182.1_Silent_p.Y173Y|MPPED1_ENST00000443721.1_Silent_p.Y140Y|MPPED1_ENST00000414469.2_Silent_p.Y34Y			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	140							hydrolase activity	p.Y140*(1)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GCCTGCCCTACGAGTACAAGA	0.582000													5	248					0	0	1	0	0
RGS2	5997	broad.mit.edu	37	1	192779366	192779366	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:192779366G>A	ENST00000235382.5	+	2	212	c.181G>A	c.(181-183)Ggc>Agc	p.G61S	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2, 24kDa	61	Necessary for membrane association.				cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity			large_intestine(3)|lung(1)|urinary_tract(1)	5						GCCCAAAACCGGCAAAAAAAG	0.363000													3	94					0	0	1	0	0
NPL	80896	broad.mit.edu	37	1	182794914	182794914	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:182794914A>T	ENST00000367554.3	+	10	999		c.e10-1		NPL_ENST00000367555.1_Splice_Site|NPL_ENST00000367552.2_Splice_Site|NPL_ENST00000258317.2_Splice_Site|NPL_ENST00000367553.1_Splice_Site|NPL_ENST00000463899.1_Splice_Site	NM_001200050.1	NP_001186979.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)						carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						GTTCTTTTCTAGTTTTGTATC	0.338000													10	213					0	0	1	0	0
SLC11A1	6556	broad.mit.edu	37	2	219252544	219252544	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:219252544C>T	ENST00000233202.6	+	8	1001	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	SLC11A1_ENST00000539932.1_Nonsense_Mutation_p.Q103*	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	221					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGTCCTGAGCAGGGAGCGCT	0.682000													4	16					0	0	1	0	0
KRT13	3860	broad.mit.edu	37	17	39661407	39661407	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:39661407C>T	ENST00000246635.3	-	1	442	c.396G>A	c.(394-396)ctG>ctA	p.L132L	KRT13_ENST00000587544.1_Silent_p.L132L|KRT13_ENST00000336861.3_Silent_p.L132L	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	132	Coil 1A.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TCTTCACCTCCAGGTCAGCGT	0.597000													6	208					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19226822	19226822	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:19226822C>T	ENST00000263200.10	-	5	843	c.771G>A	c.(769-771)caG>caA	p.Q257Q	CLTCL1_ENST00000353891.5_Silent_p.Q257Q|CLTCL1_ENST00000427926.1_Silent_p.Q257Q	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	257	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GAAAATCATTCTGTGCCTCTG	0.453000			T	?	ALCL								11	451					0	0	1	0	0
OR4D10	390197	broad.mit.edu	37	11	59244995	59244995	+	Silent	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:59244995A>T	ENST00000530162.1	+	1	150	c.93A>T	c.(91-93)ctA>ctT	p.L31L		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTCTTTTCCTACTCTTGGTGT	0.428000													6	217					0	0	1	0	0
PLA2G15	23659	broad.mit.edu	37	16	68283347	68283347	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:68283347C>G	ENST00000219345.5	+	2	365	c.282C>G	c.(280-282)atC>atG	p.I94M	PLA2G15_ENST00000413021.2_Intron|PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000566188.1_Missense_Mutation_p.I94M	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	94				I -> T (in Ref. 4; BAD96510).	fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding	p.I94M(1)		kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						TTGACAATATCAGGTGGGGGC	0.547000													53	161					0	0	1	0	0
ST3GAL4	6484	broad.mit.edu	37	11	126283520	126283520	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:126283520C>T	ENST00000526727.1	+	9	1266	c.892C>T	c.(892-894)Cag>Tag	p.Q298*	ST3GAL4_ENST00000227495.6_Nonsense_Mutation_p.Q294*|ST3GAL4_ENST00000534083.1_Nonsense_Mutation_p.Q298*|ST3GAL4_ENST00000449406.2_Nonsense_Mutation_p.Q287*|ST3GAL4_ENST00000534457.1_Nonsense_Mutation_p.Q293*|ST3GAL4_ENST00000356132.4_Nonsense_Mutation_p.Q304*|ST3GAL4_ENST00000392669.2_Nonsense_Mutation_p.Q298*|ST3GAL4_ENST00000530591.1_Nonsense_Mutation_p.Q294*|ST3GAL4_ENST00000532243.1_Nonsense_Mutation_p.Q297*|ST3GAL4_ENST00000444328.2_Nonsense_Mutation_p.Q298*			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	298					post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		CTACTATGAGCAGATCACGCT	0.597000													4	213					0	0	1	0	0
RHBDD2	57414	broad.mit.edu	37	7	75513104	75513104	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:75513104G>C	ENST00000318622.4	+	4	881	c.252G>C	c.(250-252)agG>agC	p.R84S	RHBDD2_ENST00000006777.6_Missense_Mutation_p.R225S|RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000428119.1_Missense_Mutation_p.R84S	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	225						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						TGATGAGGAGGATATCCGTGT	0.527000													3	325					0	0	1	0	0
CAV2	858	broad.mit.edu	37	7	116140323	116140323	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:116140323G>A	ENST00000222693.4	+	2	552	c.160G>A	c.(160-162)Gag>Aag	p.E54K	CAV2_ENST00000393480.2_Missense_Mutation_p.E54K|CAV2_ENST00000462876.1_3'UTR|CAV2_ENST00000343213.2_Intron	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	P51636	CAV2_HUMAN	caveolin 2	54					caveola assembly|endoplasmic reticulum organization|mitochondrion organization|negative regulation of endothelial cell proliferation|positive regulation of dopamine receptor signaling pathway|regulation of mitosis|skeletal muscle fiber development|vesicle docking|vesicle fusion	caveola|extrinsic to internal side of plasma membrane|Golgi membrane|integral to plasma membrane|membrane fraction|nucleus|perinuclear region of cytoplasm|transport vesicle	D1 dopamine receptor binding|protein homodimerization activity			large_intestine(1)|lung(1)|skin(1)	3	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			GCTGGGCTTCGAGGATGTGAT	0.577000													7	108					0	0	1	0	0
CELA3B	23436	broad.mit.edu	37	1	22304925	22304925	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:22304925T>A	ENST00000337107.6	+	2	126	c.107T>A	c.(106-108)gTc>gAc	p.V36D		NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	36	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity	p.V36D(1)		breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GAGGATGCGGTCCCCTACAGC	0.622000													53	95					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113683165	113683165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:113683165C>T	ENST00000003302.4	-	16	1873	c.1805G>A	c.(1804-1806)tGg>tAg	p.W602*	USP28_ENST00000544967.1_Nonsense_Mutation_p.W310*|USP28_ENST00000545540.1_Nonsense_Mutation_p.W477*|USP28_ENST00000260188.5_Nonsense_Mutation_p.W602*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	602					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GATATAGGCCCAATAGTGTCC	0.443000													5	176					0	0	1	0	0
SLC25A13	10165	broad.mit.edu	37	7	95775879	95775879	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:95775879C>T	ENST00000416240.2	-	14	1634	c.1444G>A	c.(1444-1446)Ggg>Agg	p.G482R	SLC25A13_ENST00000265631.5_Missense_Mutation_p.G481R|SLC25A13_ENST00000542654.1_Missense_Mutation_p.G373R	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	481					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TTGTAGATCCCAAAAAACCCC	0.388000													6	163					0	0	1	0	0
KCTD18	130535	broad.mit.edu	37	2	201354993	201354993	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:201354993G>C	ENST00000359878.3	-	7	1621	c.1111C>G	c.(1111-1113)Cct>Gct	p.P371A	KCTD18_ENST00000409157.1_Missense_Mutation_p.P371A	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	371						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.P371A(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TGGGGTGTAGGCTTCTTGTCG	0.647000													40	170					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3992096	3992096	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:3992096G>A	ENST00000381638.2	-	13	2241	c.2117C>T	c.(2116-2118)gCa>gTa	p.A706V	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	706							calcium ion binding|zinc ion binding	p.A706V(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TTCTGCTCTTGCAGGCCGGAG	0.567000													4	114					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	19970423	19970423	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:19970423C>T	ENST00000396085.1	+	10	2803	c.2442C>T	c.(2440-2442)atC>atT	p.I814I	NAV2_ENST00000349880.4_Silent_p.I814I|NAV2_ENST00000527559.2_Silent_p.I766I|NAV2_ENST00000396087.3_Silent_p.I837I|NAV2_ENST00000360655.4_Silent_p.I750I|NAV2_ENST00000540292.1_Silent_p.I768I	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	837						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GCAGGTTCATCAACACTGAGT	0.622000													25	323					0	0	1	0	0
ARPC2	10109	broad.mit.edu	37	2	219099073	219099073	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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	164					0	0	1	0	0
RASSF8	11228	broad.mit.edu	37	12	26220646	26220646	+	Splice_Site	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:26220646G>A	ENST00000405154.2	+	4	1337	c.1138_splice	c.e4+1	p.E380_splice	RASSF8_ENST00000282884.9_Splice_Site_p.E380_splice|RASSF8_ENST00000541490.1_Splice_Site_p.E380_splice|RASSF8_ENST00000542865.1_Splice_Site_p.E380_splice|RASSF8_ENST00000381352.3_Splice_Site_p.G380_splice	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	380					signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					CATTGAAAGGGGTAAGATGTT	0.408000													7	262					0	0	1	0	0
ZNF124	7678	broad.mit.edu	37	1	247319939	247319939	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:247319939G>A	ENST00000340684.6	-	4	937	c.799C>T	c.(799-801)Cgt>Tgt	p.R267C	ZNF124_ENST00000543802.2_Missense_Mutation_p.R329C|ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000472531.1_Intron	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	zinc finger protein 124	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GTACTAGCACGACTAAAGGCT	0.383000													4	104					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9073804	9073804	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:9073804C>T	ENST00000397910.4	-	3	13845	c.13642G>A	c.(13642-13644)Gca>Aca	p.A4548T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4550	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						AGTACATGTGCTGAACTGGCA	0.488000													5	442					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53014190	53014190	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:53014190G>A	ENST00000421239.2	+	6	800	c.556G>A	c.(556-558)Gat>Aat	p.D186N		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GTCTGTCAACGATGCTTCCTC	0.368000													11	199					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19666661	19666661	+	Silent	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:19666661A>G	ENST00000284885.3	-	21	2445	c.2412T>C	c.(2410-2412)taT>taC	p.Y804Y		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	804	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.Y804Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GTCGGCCGCCATAATACAGAC	0.557000													18	115					0	0	1	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	77093246	77093246	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:77093246T>A	ENST00000328299.3	+	4	879		c.e4+2			NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3						protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						CTACTGCAAGTAAGATCACAA	0.393000													8	525					0	0	1	0	0
BSCL2	26580	broad.mit.edu	37	11	62457917	62457917	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:62457917G>A	ENST00000433053.1	-	12	1867	c.1311C>T	c.(1309-1311)gcC>gcT	p.A437A	BSCL2_ENST00000278893.7_3'UTR|BSCL2_ENST00000403550.1_Silent_p.A373A|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000405837.1_Silent_p.A439A|BSCL2_ENST00000407022.3_Silent_p.A373A|BSCL2_ENST00000360796.5_Silent_p.A437A|BSCL2_ENST00000421906.1_Silent_p.A373A			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	373					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						CTAGGACAGGGGCAGAAGCAG	0.597000													8	84					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234072505	234072505	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:234072505C>T	ENST00000359570.5	+	14	1357	c.1357C>T	c.(1357-1359)Ctc>Ttc	p.L453F	INPP5D_ENST00000455936.2_Missense_Mutation_p.L217F|INPP5D_ENST00000538935.1_Missense_Mutation_p.L452F|INPP5D_ENST00000450745.1_Missense_Mutation_p.L217F			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	465					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)		GCTGGAGATCCTCAAACACTC	0.557000													5	221					0	0	1	0	0
SETD7	80854	broad.mit.edu	37	4	140444560	140444560	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:140444560A>G	ENST00000274031.3	-	5	1228	c.592T>C	c.(592-594)Tca>Cca	p.S198P	SETD7_ENST00000506866.2_Missense_Mutation_p.S198P	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	198					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					ATGCAAGATGAAGTCGACTTA	0.363000													3	298					0	0	1	0	0
IRF9	10379	broad.mit.edu	37	14	24633309	24633309	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:24633309G>A	ENST00000396864.3	+	6	902	c.615G>A	c.(613-615)caG>caA	p.Q205Q	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Silent_p.Q103Q	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	205					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AAGGGGATCAGAGGTCCCTGG	0.557000													216	455					0	0	1	0	0
TCF12	6938	broad.mit.edu	37	15	57355950	57355950	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:57355950A>T	ENST00000267811.5	+	4	455	c.151A>T	c.(151-153)Att>Ttt	p.I51F	TCF12_ENST00000333725.5_Missense_Mutation_p.I51F|TCF12_ENST00000438423.2_Missense_Mutation_p.I51F|TCF12_ENST00000452095.2_Intron|TCF12_ENST00000557843.1_Missense_Mutation_p.I51F	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	51					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CTTTTTAGGTATTGATGAAAG	0.353000			T	TEC	extraskeletal myxoid chondrosarcoma								5	279					0	0	1	0	0
E2F7	144455	broad.mit.edu	37	12	77417920	77417920	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:77417920C>T	ENST00000322886.7	-	13	2846	c.2611G>A	c.(2611-2613)Gag>Aag	p.E871K	E2F7_ENST00000416496.2_Silent_p.*729*	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	871					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						AAAAACGTCTCACGATGTGTG	0.478000													29	108					0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7990740	7990740	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:7990740C>T	ENST00000319144.4	-	1	281	c.21G>A	c.(19-21)agG>agA	p.R7R		NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	7	PLAT.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	p.R7R(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CTGTGGCCACCCTGACTTTGT	0.602000										Multiple Myeloma(8;0.094)			48	55					0	0	1	0	0
AP2A1	160	broad.mit.edu	37	19	50303388	50303388	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:50303388C>T	ENST00000354293.5	+	11	1602	c.1436C>T	c.(1435-1437)gCc>gTc	p.A479V	AP2A1_ENST00000359032.5_Missense_Mutation_p.A479V	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	479					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	p.A479G(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		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;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CAGGGCTATGCCGCCAAGACC	0.612000													3	75					0	0	1	0	0
TMCC3	57458	broad.mit.edu	37	12	94965355	94965355	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:94965355G>A	ENST00000261226.4	-	4	1421	c.1290C>T	c.(1288-1290)tcC>tcT	p.S430S	TMCC3_ENST00000551457.1_Silent_p.S399S	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	430						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TCGCGATGGTGGACACACACA	0.493000													140	767					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165551753	165551753	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:165551753G>A	ENST00000375458.2	-	11	2370	c.2149C>T	c.(2149-2151)Cct>Tct	p.P717S	COBLL1_ENST00000194871.6_Missense_Mutation_p.P822S|COBLL1_ENST00000409184.3_Missense_Mutation_p.P755S|COBLL1_ENST00000392717.2_Missense_Mutation_p.P793S|COBLL1_ENST00000342193.4_Missense_Mutation_p.P755S	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	793										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TCATTTGAAGGTTTTGGCTTG	0.373000													4	239					0	0	1	0	0
SP3	6670	broad.mit.edu	37	2	174783515	174783515	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:174783515T>A	ENST00000310015.6	-	5	2170		c.e5-2		SP3_ENST00000418194.2_Splice_Site|SP3_ENST00000455789.2_Splice_Site	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor						negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TCCTAATATCTAAAGGGAAAA	0.398000													4	39					0	0	1	0	0
HLA-F	3134	broad.mit.edu	37	6	29693797	29693797	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:29693797G>A	ENST00000376861.1	+	7	1397	c.1013G>A	c.(1012-1014)aGa>aAa	p.R338K	HLA-F_ENST00000259951.7_Missense_Mutation_p.R338K|HLA-F_ENST00000334668.4_Missense_Mutation_p.R338K|HLA-F_ENST00000440587.2_Intron|HLA-F_ENST00000434407.2_Missense_Mutation_p.R246K|HLA-F_ENST00000475996.1_Intron			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	338					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GATAGAAACAGAGGGAGCTAC	0.517000													12	158					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113540573	113540573	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:113540573C>T	ENST00000505019.1	-	6	750	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	C4orf21_ENST00000445203.2_Missense_Mutation_p.E178K|C4orf21_ENST00000309071.5_Missense_Mutation_p.E209K	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	209										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TAATTTTCTTCACACAGCACT	0.398000													3	32					0	0	1	0	0
HDAC1	3065	broad.mit.edu	37	1	32796451	32796451	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:32796451C>T	ENST00000373548.3	+	9	1005	c.921C>T	c.(919-921)aaC>aaT	p.N307N	HDAC1_ENST00000490081.1_3'UTR|HDAC1_ENST00000373541.2_Silent_p.N114N	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	307	Histone deacetylase.				anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity	p.N307N(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	CCATTCGTAACGTTGCCCGGT	0.567000													64	138					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113540507	113540507	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:113540507C>T	ENST00000505019.1	-	6	816	c.691G>A	c.(691-693)Gag>Aag	p.E231K	C4orf21_ENST00000445203.2_Missense_Mutation_p.E200K|C4orf21_ENST00000309071.5_Missense_Mutation_p.E231K	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	231										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTCACAGGCTCATTGGTCAGT	0.393000													6	70					0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78316739	78316739	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:78316739C>T	ENST00000409931.3	-	6	1300	c.1229G>A	c.(1228-1230)aGc>aAc	p.S410N	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.S410N			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	410						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CTCCAGCTGGCTGGTAAGGCC	0.542000													98	656					0	0	1	0	0
TBC1D15	64786	broad.mit.edu	37	12	72265848	72265848	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:72265848A>T	ENST00000550746.1	+	2	94		c.e2-1		TBC1D15_ENST00000393309.3_Splice_Site|TBC1D15_ENST00000319106.8_Splice_Site|TBC1D15_ENST00000485960.2_Splice_Site	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15								protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTGCTGTTTTAGATTATATAT	0.279000													4	78					0	0	1	0	0
TXNDC15	79770	broad.mit.edu	37	5	134232036	134232036	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:134232036G>C	ENST00000358387.4	+	4	1433	c.808G>C	c.(808-810)Gga>Cga	p.G270R	TXNDC15_ENST00000546290.1_Missense_Mutation_p.G247R	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	270	Thioredoxin.				cell redox homeostasis	integral to membrane		p.G270R(1)|p.G270>?(1)		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)			ATTATTTCAAGGAGCTAAACC	0.353000													44	79					0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36047923	36047923	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:36047923C>T	ENST00000262623.3	-	12	1789	c.1761G>A	c.(1759-1761)atG>atA	p.M587I		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	587					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	ATGGAAAGTTCATGGCCTCTA	0.592000													12	276					0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17820079	17820079	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:17820079G>A	ENST00000545871.1	-	3	512	c.52C>T	c.(52-54)Cct>Tct	p.P18S	RAI2_ENST00000331511.1_Missense_Mutation_p.P18S|RP3-389A20.4_ENST00000509491.2_Missense_Mutation_p.P18S|RAI2_ENST00000451717.1_Missense_Mutation_p.P18S|RAI2_ENST00000415486.3_Missense_Mutation_p.P18S|RAI2_ENST00000360011.1_Missense_Mutation_p.P18S	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	18					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GCCAAGGCAGGAGGGGAGTCA	0.532000													44	853					0	0	1	0	0
MIER1	57708	broad.mit.edu	37	1	67450321	67450321	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:67450321T>G	ENST00000357692.2	+	15	1585	c.1328T>G	c.(1327-1329)aTt>aGt	p.I443S	MIER1_ENST00000401041.1_Missense_Mutation_p.I479S|MIER1_ENST00000401042.3_Intron|MIER1_ENST00000371016.1_Intron|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000371014.1_Intron|MIER1_ENST00000371018.3_Missense_Mutation_p.I443S|MIER1_ENST00000355356.3_Missense_Mutation_p.I426S	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	450					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.I479S(1)|p.I426S(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						GGGTTACACATTAATGGACCA	0.353000													41	66					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107618592	107618592	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:107618592G>A	ENST00000393561.1	-	7	1156	c.972C>T	c.(970-972)tgC>tgT	p.C324C	LAMB1_ENST00000393560.1_Silent_p.C300C|LAMB1_ENST00000222399.6_Silent_p.C300C			P07942	LAMB1_HUMAN	laminin, beta 1	300	Laminin EGF-like 1.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTTATGCCTGCACATGCAGT	0.418000													5	519					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751901	140751901	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:140751901G>A	ENST00000576222.1	+	1	2071	c.1940G>A	c.(1939-1941)cGt>cAt	p.R647H	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCACTGTGCGTGATGGAGGA	0.647000													11	63					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234072504	234072504	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:234072504C>T	ENST00000359570.5	+	14	1356	c.1356C>T	c.(1354-1356)atC>atT	p.I452I	INPP5D_ENST00000455936.2_Silent_p.I216I|INPP5D_ENST00000538935.1_Silent_p.I451I|INPP5D_ENST00000450745.1_Silent_p.I216I			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	464					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)		GGCTGGAGATCCTCAAACACT	0.552000													5	222					0	0	1	0	0
AHCY	191	broad.mit.edu	37	20	32879280	32879280	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:32879280A>G	ENST00000538132.1	-	5	805	c.419T>C	c.(418-420)aTg>aCg	p.M140T	AHCY_ENST00000468908.1_5'UTR|AHCY_ENST00000217426.2_Missense_Mutation_p.M168T	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	168					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCCATTGGCCATCATCTTGTA	0.572000													5	439					0	0	1	0	0
GTF2H1	2965	broad.mit.edu	37	11	18357301	18357301	+	Splice_Site	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:18357301G>T	ENST00000265963.4	+	3	315	c.154_splice	c.e3-1	p.C52_splice	GTF2H1_ENST00000534641.1_Intron|GTF2H1_ENST00000531757.1_3'UTR|GTF2H1_ENST00000453096.2_Splice_Site_p.C52_splice	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	52					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	p.C52F(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						TTCTTTTTAGGCCAGAAAATT	0.423000								Nucleotide excision repair (NER)					47	73					8.43867e-41	9.02469e-41	1	1	0
RBM47	54502	broad.mit.edu	37	4	40428110	40428110	+	Silent	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:40428110A>G	ENST00000319592.4	-	6	2095	c.1386T>C	c.(1384-1386)atT>atC	p.I462I	RBM47_ENST00000514014.1_Silent_p.I493I|RBM47_ENST00000295971.7_Silent_p.I531I|RBM47_ENST00000381795.6_Silent_p.I462I|RBM47_ENST00000381793.2_Silent_p.I531I			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	531						nucleus	nucleotide binding|RNA binding	p.I462I(2)|p.I531I(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGGCAGTAGGAATTCTCTGAA	0.562000													31	144					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155753882	155753882	+	Splice_Site	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:155753882T>G	ENST00000437809.1	-	14	1911		c.e14-2		GON4L_ENST00000361040.5_Splice_Site|GON4L_ENST00000271883.5_Splice_Site|GON4L_ENST00000368331.1_Splice_Site|GON4L_ENST00000471341.1_Splice_Site			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)						regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.?(3)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATCTTGGAACTGTGGGCAAAG	0.473000													73	134					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160295535	160295535	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:160295535A>T	ENST00000392783.2	-	7	1380	c.885T>A	c.(883-885)caT>caA	p.H295Q	BAZ2B_ENST00000392782.1_Missense_Mutation_p.H293Q|BAZ2B_ENST00000355831.2_Missense_Mutation_p.H295Q|BAZ2B_ENST00000343439.5_Missense_Mutation_p.H293Q	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGTTACTTTTATGTTGTGCTT	0.323000													5	124					0	0	1	0	0
SPZ1	84654	broad.mit.edu	37	5	79616637	79616637	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:79616637C>T	ENST00000296739.4	+	1	848	c.603C>T	c.(601-603)aaC>aaT	p.N201N		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.N201N(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		ACTCTGAGAACACCGCACAAG	0.353000													31	81					0	0	1	0	0
ADRA2A	150	broad.mit.edu	37	10	112838936	112838936	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:112838936C>T	ENST00000280155.2	+	1	2147	c.1182C>T	c.(1180-1182)gtC>gtT	p.V394V		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	379					actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	TGGCCGTGGTCATCGGAGTGT	0.662000													4	27					0	0	1	0	0
TXNDC15	79770	broad.mit.edu	37	5	134232037	134232037	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:134232037G>A	ENST00000358387.4	+	4	1434	c.809G>A	c.(808-810)gGa>gAa	p.G270E	TXNDC15_ENST00000546290.1_Missense_Mutation_p.G247E	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	270	Thioredoxin.				cell redox homeostasis	integral to membrane		p.G270E(1)|p.G270>?(1)		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)			TTATTTCAAGGAGCTAAACCA	0.353000													44	80					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162463847	162463847	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:162463847T>A	ENST00000306100.5	-	9	1452		c.e9-2		FSTL5_ENST00000379164.4_Splice_Site|FSTL5_ENST00000536695.1_Splice_Site|FSTL5_ENST00000511170.1_Splice_Site|FSTL5_ENST00000427802.2_Splice_Site	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5							extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTGGAGGAACTAAAGGAAAAA	0.368000													4	92					0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154179286	154179286	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:154179286T>A	ENST00000336314.4	+	9	1306	c.1282T>A	c.(1282-1284)Ttt>Att	p.F428I		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	505	HTH La-type RNA-binding.						protein binding|RNA binding	p.F505I(1)|p.F428I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTGCCCTGAATTTGTTCCCCG	0.517000													129	551					0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56387792	56387792	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:56387792C>T	ENST00000423270.1	-	9	2133	c.2134G>A	c.(2134-2136)Gct>Act	p.A712T	RFX7_ENST00000559447.2_Missense_Mutation_p.A615T|RFX7_ENST00000317318.6_Missense_Mutation_p.A712T|RFX7_ENST00000422057.1_Missense_Mutation_p.A615T	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	615					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGAATCTGAGCACCTGCTGTT	0.443000													54	299					0	0	1	0	0
FIZ1	84922	broad.mit.edu	37	19	56109181	56109181	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:56109181G>A	ENST00000221665.3	-	2	140	c.51C>T	c.(49-51)gcC>gcT	p.A17A	FIZ1_ENST00000592585.1_Silent_p.A17A	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding	p.A17A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CCCTGGGGGCGGCAGCGGCGG	0.672000													6	14					0	0	1	0	0
PNMA2	10687	broad.mit.edu	37	8	26366045	26366045	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:26366045G>A	ENST00000522362.2	-	3	1121	c.227C>T	c.(226-228)tCg>tTg	p.S76L		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	76					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		gggaatggccgagacatcagt	0.473000													8	135					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62295365	62295365	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:62295365G>A	ENST00000378024.4	-	5	6798	c.6524C>T	c.(6523-6525)cCt>cTt	p.P2175L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2175					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTGCATCTCAGGCATCTTAAA	0.493000													4	452					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206617646	206617646	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:206617646G>A	ENST00000360409.3	+	12	2782	c.1991G>A	c.(1990-1992)tGg>tAg	p.W664*	NRP2_ENST00000412873.2_Nonsense_Mutation_p.W664*|NRP2_ENST00000540841.1_Nonsense_Mutation_p.W664*|NRP2_ENST00000272849.3_Nonsense_Mutation_p.W664*|NRP2_ENST00000357785.5_Nonsense_Mutation_p.W664*|NRP2_ENST00000540178.1_Nonsense_Mutation_p.W664*|NRP2_ENST00000357118.4_Nonsense_Mutation_p.W664*	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	664	MAM.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CATGCCAAGTGGCTCCGGACC	0.522000													7	164					0	0	1	0	0
ZNF416	55659	broad.mit.edu	37	19	58084565	58084565	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:58084565C>T	ENST00000196489.3	-	4	929	c.707G>A	c.(706-708)tGc>tAc	p.C236Y		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TTTTCCAGTGCAGACTCTAGG	0.468000													8	444					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324721	152324721	+	Silent	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:152324721A>T	ENST00000388718.5	-	3	5613	c.5541T>A	c.(5539-5541)acT>acA	p.T1847T	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1847							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)			TCTGTCCATGAGTAGTTCCAT	0.502000													8	878					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113540570	113540570	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:113540570C>T	ENST00000505019.1	-	6	753	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	C4orf21_ENST00000445203.2_Missense_Mutation_p.E179K|C4orf21_ENST00000309071.5_Missense_Mutation_p.E210K	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	210										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AAATAATTTTCTTCACACAGC	0.388000													3	31					0	0	1	0	0
HEATR3	55027	broad.mit.edu	37	16	50128614	50128614	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:50128614A>T	ENST00000299192.7	+	12	1701		c.e12-1		HEATR3_ENST00000285767.4_Splice_Site|HEATR3_ENST00000564942.1_Splice_Site	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3								binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTTGTGTTTTAGATTTTGCTA	0.333000													4	121					0	0	1	0	0
SUFU	51684	broad.mit.edu	37	10	104375093	104375093	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:104375093G>A	ENST00000369902.3	+	9	1257	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q	SUFU_ENST00000423559.2_Missense_Mutation_p.R364Q|SUFU_ENST00000369899.2_Missense_Mutation_p.R364Q	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	364					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		ATTCGCACGCGGCAGCTTGAG	0.567000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				4	176					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32541886	32541886	+	Silent	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:32541886A>T	ENST00000360538.2	-	3	2753	c.2637T>A	c.(2635-2637)acT>acA	p.T879T	TOPORS_ENST00000379858.1_Silent_p.T814T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	879	Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		tATGGTGTTTAGTTGTATCAG	0.383000													7	171					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187549318	187549318	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:187549318C>T	ENST00000441802.2	-	9	5009	c.4800G>A	c.(4798-4800)tcG>tcA	p.S1600S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1600	Cadherin 14.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.S1600S(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTGACTCGATCGAGTACAGCA	0.448000										HNSCC(5;0.00058)			8	81					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11184579	11184579	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:11184579G>A	ENST00000361445.4	-	47	6714	c.6638C>T	c.(6637-6639)cCa>cTa	p.P2213L	MTOR_ENST00000376838.1_Missense_Mutation_p.P418L	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2213	PI3K/PI4K.				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						AAGAGATGTTGGGTCATTGGC	0.453000													15	89					0	0	1	0	0
NDUFS3	4722	broad.mit.edu	37	11	47602520	47602520	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:47602520G>T	ENST00000534716.2	+	4	383	c.365G>T	c.(364-366)cGg>cTg	p.R122L	NDUFS3_ENST00000528192.1_Missense_Mutation_p.R122L|NDUFS3_ENST00000533507.1_3'UTR|NDUFS3_ENST00000263774.4_Missense_Mutation_p.R122L			O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	122					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					NADH(DB00157)	GTCCCAACTCGGCAAAACCGT	0.453000													5	238					0.00198382	0.00202323	1	1	0
HPS3	84343	broad.mit.edu	37	3	148872892	148872892	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:148872892A>T	ENST00000296051.2	+	8	1540		c.e8-1		HPS3_ENST00000460120.1_Splice_Site	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3							cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTTTGCTTTTAGTTCGAGAAA	0.303000									Hermansky-Pudlak syndrome				8	126					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19701739	19701739	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:19701739C>T	ENST00000328041.6	+	17	2087	c.1890C>T	c.(1888-1890)ttC>ttT	p.F630F		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	630						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGACTGAGTTCAACGTGTTCA	0.577000													17	947					0	0	1	0	0
NAT2	10	broad.mit.edu	37	8	18258243	18258243	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:18258243T>C	ENST00000286479.3	+	2	837	c.730T>C	c.(730-732)Ttc>Ctc	p.F244L	NAT2_ENST00000520116.1_Missense_Mutation_p.F114L	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	244					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	p.F244L(1)		kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		CTATAGAAAATTCAATTATAA	0.393000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				21	24					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218695115	218695115	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:218695115T>A	ENST00000171887.4	-	21	3451		c.e21-2		TNS1_ENST00000419504.1_Splice_Site|TNS1_ENST00000430930.1_Intron	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1							cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TTCTGGTAACTAAGGAAAAAA	0.557000													4	110					0	0	1	0	0
NUP35	129401	broad.mit.edu	37	2	184016285	184016285	+	Silent	SNP	A	A	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:184016285A>C	ENST00000295119.4	+	5	550	c.447A>C	c.(445-447)acA>acC	p.T149T	NUP35_ENST00000409798.1_Silent_p.T132T|NUP35_ENST00000541912.1_Silent_p.T14T	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	149					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane		p.T149T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						GAAAGACGACATTATCTCCTG	0.413000													37	99					0	0	1	0	0
IGSF6	10261	broad.mit.edu	37	16	21658470	21658470	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:21658470G>A	ENST00000268389.4	-	2	472	c.411C>T	c.(409-411)acC>acT	p.T137T	METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	137					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		CCACCAGTGTGGTCCCTCCTC	0.458000													67	340					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7651777	7651777	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:7651777G>A	ENST00000359156.4	-	4	667	c.465C>T	c.(463-465)tcC>tcT	p.S155S	CD163_ENST00000432237.2_Silent_p.S155S|CD163_ENST00000541972.1_Silent_p.S143S|CD163_ENST00000396620.3_Silent_p.S155S	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	155					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TTTCCAAATTGGATCCATCTG	0.408000													11	557					0	0	1	0	0
C2CD2L	9854	broad.mit.edu	37	11	118981555	118981555	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:118981555A>T	ENST00000336702.3	+	4	929		c.e4-1			NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like							integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						TCCTGTCTGTAGTTGGAAGTC	0.527000													8	496					0	0	1	0	0
WIF1	11197	broad.mit.edu	37	12	65462686	65462686	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:65462686T>A	ENST00000286574.4	-	4	772		c.e4-2			NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1						multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CTTGAACAACTAAAAGAAAAA	0.373000			T	HMGA2	pleomorphic salivary gland adenoma								4	97					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33237800	33237800	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:33237800C>T	ENST00000401073.2	+	6	3090	c.3020C>T	c.(3019-3021)tCa>tTa	p.S1007L	KIAA1522_ENST00000373480.1_Missense_Mutation_p.S948L|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.S959L	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	948								p.S1007L(1)		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)				CGGAGCATCTCAGAGCAGCGG	0.667000													9	14					0	0	1	0	0
PRELID1	27166	broad.mit.edu	37	5	176733119	176733119	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:176733119C>G	ENST00000303204.4	+	4	665	c.453C>G	c.(451-453)ttC>ttG	p.F151L	MXD3_ENST00000427908.2_3'UTR|PRELID1_ENST00000503216.1_Missense_Mutation_p.F151L			Q9Y255	PRLD1_HUMAN	PRELI domain containing 1	151	PRELI/MSF1.				immune response|multicellular organismal development	mitochondrion|nucleus		p.F151L(1)		endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	7	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)			TTGCCCGATTCAAAAGCAACG	0.498000													106	102					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228479797	228479797	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:228479797C>T	ENST00000570156.2	+	44	11899	c.11825C>T	c.(11824-11826)gCg>gTg	p.A3942V	OBSCN_ENST00000422127.1_Missense_Mutation_p.A3513V|OBSCN_ENST00000359599.6_Missense_Mutation_p.A2360V|OBSCN_ENST00000366707.4_Missense_Mutation_p.A632V|OBSCN_ENST00000366709.4_Missense_Mutation_p.A632V|OBSCN_ENST00000284548.11_Missense_Mutation_p.A3513V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2980	Ig-like 40.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGGCCATGGCGGACGCCGGG	0.622000													4	254					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34262927	34262927	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:34262927C>T	ENST00000262622.3	+	4	992	c.234C>T	c.(232-234)gaC>gaT	p.D78D	CHST8_ENST00000438847.2_Silent_p.D78D|CHST8_ENST00000434302.1_Silent_p.D78D	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	78					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	p.D78D(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TCACTCGGGACTTATCCAGTG	0.657000													6	18					0	0	1	0	0
PPP2R2A	5520	broad.mit.edu	37	8	26218611	26218611	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:26218611C>T	ENST00000380737.3	+	6	910	c.581C>T	c.(580-582)tCt>tTt	p.S194F	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.S204F	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha											kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		ACATATTTATCTGCAGATGAT	0.353000													4	62					0	0	1	0	0
PAXBP1	94104	broad.mit.edu	37	21	34134523	34134523	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:34134523C>T	ENST00000331923.4	-	4	944	c.755G>A	c.(754-756)cGc>cAc	p.R252H	PAXBP1_ENST00000290178.4_Missense_Mutation_p.R252H|PAXBP1_ENST00000472588.1_5'UTR	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1																		TCTAACAAGGCGGCCTTTACC	0.423000													4	124					0	0	1	0	0
FAM111B	374393	broad.mit.edu	37	11	58893286	58893286	+	Silent	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:58893286T>G	ENST00000343597.3	+	4	1907	c.1716T>G	c.(1714-1716)ggT>ggG	p.G572G	FAM111B_ENST00000411426.1_Silent_p.G542G|FAM111B_ENST00000529618.1_Silent_p.G542G	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	572							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						CATCTACTGGTTTGATTTATT	0.353000													8	159					0	0	1	0	0
FXYD2	486	broad.mit.edu	37	11	117691582	117691582	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:117691582C>T	ENST00000528014.1	-	5	329	c.162G>A	c.(160-162)aaG>aaA	p.K54K	FXYD2_ENST00000292079.2_Silent_p.K56K|FXYD6-FXYD2_ENST00000532984.1_3'UTR|RP11-728F11.3_ENST00000596805.1_RNA|FXYD2_ENST00000260287.2_Silent_p.K54K|FXYD2_ENST00000532119.1_Silent_p.K54K|RP11-728F11.3_ENST00000531850.2_RNA					FXYD domain containing ion transport regulator 2											breast(1)|kidney(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;2.83e-05)|Epithelial(105;0.00114)		ACCTGCGCTTCTTATTGCCCC	0.532000													4	48					0	0	1	0	0
GART	2618	broad.mit.edu	37	21	34889913	34889913	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:34889913C>T	ENST00000381831.3	-	15	1968	c.1705G>A	c.(1705-1707)Ggt>Agt	p.G569S	GART_ENST00000381815.4_Missense_Mutation_p.G569S|GART_ENST00000543717.1_Missense_Mutation_p.G121S|GART_ENST00000381839.3_Missense_Mutation_p.G569S	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	569	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	GCTGTTTCACCTCCTGGTGGG	0.458000													4	232					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98418894	98418894	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:98418894G>A	ENST00000186436.5	-	24	2876	c.2648C>T	c.(2647-2649)tCa>tTa	p.S883L		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	883						integral to membrane		p.S770L(1)|p.S883L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TACTTACCTTGATACTAACTT	0.328000													26	50					0	0	1	0	0
KIAA1191	57179	broad.mit.edu	37	5	175782659	175782659	+	Missense_Mutation	SNP	G	G	A	rs138102670	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:175782659G>A	ENST00000298569.4	-	4	655	c.122C>T	c.(121-123)gCg>gTg	p.A41V	KIAA1191_ENST00000393728.2_Intron|KIAA1191_ENST00000510164.1_Missense_Mutation_p.A41V|KIAA1191_ENST00000393725.2_Missense_Mutation_p.A22V|KIAA1191_ENST00000533553.1_Intron|RP11-843P14.1_ENST00000512934.1_RNA	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	KIAA1191	41							protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|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;0.101)		AGTCATGGGCGCAGGGTCCTC	0.582000													5	590					0	0	1	0	0
SCGB2B2	284402	broad.mit.edu	37	19	35085113	35085113	+	Silent	SNP	G	G	T	rs139007213		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:35085113G>T	ENST00000601241.1	-	3	2313	c.213C>A	c.(211-213)tcC>tcA	p.S71S	SCGB2B2_ENST00000379204.2_Silent_p.S71S|SCGB2B2_ENST00000595326.1_Intron			Q4G0G5	SCGBL_HUMAN	secretoglobin, family 2B, member 2	71						extracellular region	binding										TTTCTGTCACGGAGACATTGG	0.542000													8	386					0.000442599	0.000453394	1	1	0
TCHHL1	126637	broad.mit.edu	37	1	152058807	152058807	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:152058807C>T	ENST00000368806.1	-	3	1415	c.1351G>A	c.(1351-1353)Gga>Aga	p.G451R		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	451							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGATCTCCTCCTTCTGAGCTT	0.443000													10	824					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176903353	176903353	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:176903353G>C	ENST00000367654.2	-	16	2643	c.2630C>G	c.(2629-2631)tCt>tGt	p.S877C	ASTN1_ENST00000361833.2_Missense_Mutation_p.S869C|ASTN1_ENST00000424564.2_Missense_Mutation_p.S869C|ASTN1_ENST00000367657.3_Missense_Mutation_p.S869C			O14525	ASTN1_HUMAN	astrotactin 1	877					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTACCAGATAGAACAGGACTC	0.512000													4	378					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72420855	72420855	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:72420855A>T	ENST00000340595.3	+	18	2758		c.e18-1		SLC4A4_ENST00000264485.5_Splice_Site|SLC4A4_ENST00000425175.1_Splice_Site|SLC4A4_ENST00000351898.6_Splice_Site	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4							basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTTTCCTTCTAGTTTATACCC	0.323000													6	267					0	0	1	0	0
MUL1	79594	broad.mit.edu	37	1	20828602	20828602	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:20828602G>A	ENST00000264198.3	-	3	425	c.289C>T	c.(289-291)Cag>Tag	p.Q97*		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	97					activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		TTGTGCTCCTGAAGTGTCAGC	0.478000													4	114					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122758390	122758390	+	Splice_Site	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:122758390A>G	ENST00000245838.8	-	26	3218		c.e26+1		THOC2_ENST00000355725.4_Splice_Site|THOC2_ENST00000491737.1_Splice_Site	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2						intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	p.?(2)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TATTAGTCATACCTTTTCATA	0.358000													81	42					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52646191	52646191	+	Silent	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:52646191T>G	ENST00000399231.3	-	26	3687	c.3444A>C	c.(3442-3444)gtA>gtC	p.V1148V	MYO5A_ENST00000553916.1_Silent_p.V1148V|MYO5A_ENST00000358212.6_Silent_p.V1148V|MYO5A_ENST00000356338.6_Silent_p.V1148V|MYO5A_ENST00000399233.2_Silent_p.V1148V	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1148					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.V1148V(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGTCCAGAGGTACCTTCTTCT	0.488000													57	110					0	0	1	0	0
LETMD1	25875	broad.mit.edu	37	12	51447559	51447559	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:51447559A>T	ENST00000418425.2	+	4	448		c.e4-1		LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000550929.1_Splice_Site|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000262055.4_Splice_Site|LETMD1_ENST00000380123.2_Intron	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1							integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						ATTTCTGCTTAGTTCCGCCAA	0.403000													11	742					0	0	1	0	0
CWF19L1	55280	broad.mit.edu	37	10	102006678	102006678	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:102006678G>A	ENST00000354105.4	-	8	809	c.723C>T	c.(721-723)ttC>ttT	p.F241F	CWF19L1_ENST00000478047.1_Intron	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	241							catalytic activity	p.F241F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		GAACAATACTGAACGCGTAAA	0.393000													28	21					0	0	1	0	0
SIPA1	6494	broad.mit.edu	37	11	65413812	65413812	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:65413812C>T	ENST00000394224.3	+	7	1680	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	SIPA1_ENST00000394227.3_Missense_Mutation_p.R462W|SIPA1_ENST00000527525.1_Missense_Mutation_p.R462W|SIPA1_ENST00000534313.1_Missense_Mutation_p.R462W	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	462	Rap-GAP.				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CCTAGTGGTGCGGGCACACAC	0.642000													3	60					0	0	1	0	0
DDX39B	7919	broad.mit.edu	37	6	31503131	31503131	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:31503131G>A	ENST00000453105.2	-	5	793	c.607C>T	c.(607-609)Cta>Tta	p.L203L	DDX39B_ENST00000417556.2_Intron|DDX39B_ENST00000415382.2_Intron|DDX39B_ENST00000376177.2_Intron|DDX39B_ENST00000396172.1_Intron|ATP6V1G2-DDX39B_ENST00000376185.1_Intron|DDX39B_ENST00000458640.1_Intron			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	0	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						agagaaggtagaagggTATTT	0.562000													9	299					0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9498720	9498720	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:9498720C>T	ENST00000246070.2	+	5	1001	c.509C>T	c.(508-510)tCt>tTt	p.S170F	LAMP5_ENST00000427562.2_Missense_Mutation_p.S126F	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	170						integral to membrane											CACCACCTCTCTGCCTTGGTC	0.532000													6	184					0	0	1	0	0
IZUMO2	126123	broad.mit.edu	37	19	50657881	50657881	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:50657881A>C	ENST00000293405.3	-	6	599	c.599T>G	c.(598-600)tTt>tGt	p.F200C		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	200						integral to membrane		p.F200C(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						CACGAAGACAAAGACAGCCAG	0.602000													123	195					0	0	1	0	0
MT1X	4501	broad.mit.edu	37	16	56717132	56717132	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:56717132C>T	ENST00000562939.1	+	2	155	c.84C>T	c.(82-84)tcC>tcT	p.S28S	RP11-343H19.2_ENST00000567563.1_RNA|MT1X_ENST00000394485.4_Silent_p.S28S			P80297	MT1X_HUMAN	metallothionein 1X	28	Beta.				response to metal ion		metal ion binding			kidney(2)	2						AATGCACCTCCTGCAAGAAGA	0.577000													7	122					0	0	1	0	0
TMEM116	89894	broad.mit.edu	37	12	112381091	112381091	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:112381091C>G	ENST00000354825.3	-	7	672	c.17G>C	c.(16-18)aGt>aCt	p.S6T	TMEM116_ENST00000552374.2_Missense_Mutation_p.S98T|TMEM116_ENST00000550831.3_Missense_Mutation_p.S6T|TMEM116_ENST00000437003.2_Missense_Mutation_p.S6T|TMEM116_ENST00000355445.3_Intron|TMEM116_ENST00000549537.2_5'UTR			Q8NCL8	TM116_HUMAN	transmembrane protein 116	6						integral to membrane				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						GCTCTGTCCACTCTGGGTGTG	0.423000													11	328					0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67345001	67345001	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr18:67345001C>T	ENST00000382713.5	+	4	511	c.321C>T	c.(319-321)ctC>ctT	p.L107L	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	107	PH.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GCAAGCACCTCTGCATGGAGT	0.537000													20	192					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32541877	32541877	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:32541877A>T	ENST00000360538.2	-	3	2762	c.2646T>A	c.(2644-2646)caT>caA	p.H882Q	TOPORS_ENST00000379858.1_Missense_Mutation_p.H817Q	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	882	Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ttttctttttATGGTGTTTAG	0.373000													6	167					0	0	1	0	0
EFR3A	23167	broad.mit.edu	37	8	132962214	132962214	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:132962214A>T	ENST00000254624.5	+	5	591		c.e5-1		EFR3A_ENST00000334503.4_Splice_Site|EFR3A_ENST00000519656.1_Splice_Site	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)							plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TGTGTTTTTTAGTTTGTCAAA	0.308000													5	20					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32740067	32740067	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:32740067A>T	ENST00000421745.2	+	55	10713	c.10579A>T	c.(10579-10581)Aat>Tat	p.N3527Y		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3527					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTTACTTTTTAATTGGTCCAT	0.294000													7	92					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152080608	152080608	+	Silent	SNP	T	T	C	rs71585886		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:152080608T>C	ENST00000368804.1	-	2	5084	c.5085A>G	c.(5083-5085)gaA>gaG	p.E1695E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1695	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTTCCTCTTCGCGGAATT	0.577000													4	352					0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220198598	220198598	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:220198598T>A	ENST00000366923.3	-	7	895	c.626A>T	c.(625-627)tAc>tTc	p.Y209F		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	209	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	AATGTGTAAGTAACTAAAACA	0.333000													3	34					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125072866	125072866	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr8:125072866C>T	ENST00000522917.1	+	24	3269	c.3063C>T	c.(3061-3063)tgC>tgT	p.C1021C	FER1L6-AS2_ENST00000601180.1_RNA|FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.C1021C	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1021						integral to membrane		p.C1021C(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCATTGAGTGCGGAGGACAAG	0.547000													85	135					0	0	1	0	0
VPS53	55275	broad.mit.edu	37	17	456619	456619	+	Splice_Site	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:456619C>T	ENST00000437048.2	-	16	1934		c.e16+1		RP5-1029F21.2_ENST00000574008.1_RNA|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000576149.1_Splice_Site|VPS53_ENST00000571805.1_Splice_Site|VPS53_ENST00000446250.2_Splice_Site|VPS53_ENST00000401468.3_Splice_Site|VPS53_ENST00000291074.5_Splice_Site	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)						protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		AGGGTACATACGTGCTGAACG	0.493000													16	164					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132161721	132161721	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chrX:132161721C>A	ENST00000511190.1	-	6	997	c.528G>T	c.(526-528)caG>caT	p.Q176H	USP26_ENST00000406273.1_Missense_Mutation_p.Q176H|USP26_ENST00000370832.1_Missense_Mutation_p.Q176H	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	176					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.Q176H(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCTTCTTGTGCTGATTTTCTG	0.383000													76	38					3.61922e-38	3.85989e-38	1	1	0
HKR1	284459	broad.mit.edu	37	19	37854260	37854260	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:37854260G>A	ENST00000591471.1	+	9	2385	c.744G>A	c.(742-744)ggG>ggA	p.G248G	HKR1_ENST00000589392.1_Silent_p.G503G|HKR1_ENST00000392153.3_Silent_p.G502G|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000544914.1_Silent_p.G248G|HKR1_ENST00000541583.2_Silent_p.G460G|HKR1_ENST00000324411.4_Silent_p.G521G			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	521					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACACTCAGGGGAGAAGCCAT	0.512000													5	150					0	0	1	0	0
WFDC8	90199	broad.mit.edu	37	20	44187563	44187563	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr20:44187563C>T	ENST00000357199.4	-	3	283	c.205G>A	c.(205-207)Gat>Aat	p.D69N	WFDC8_ENST00000289953.2_Missense_Mutation_p.D69N	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	69	WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				CAGTCAAAATCTGTGTTACAT	0.468000													6	514					0	0	1	0	0
DCDC2	51473	broad.mit.edu	37	6	24178707	24178707	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:24178707C>A	ENST00000378454.3	-	9	1478	c.1177G>T	c.(1177-1179)Gat>Tat	p.D393Y	DCDC2_ENST00000378450.3_Missense_Mutation_p.D146Y	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	393					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)				TCACTGTGATCCAGAATCTCC	0.512000													24	139					1.33986e-20	1.42531e-20	1	1	0
FMO1	2326	broad.mit.edu	37	1	171251249	171251249	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:171251249G>A	ENST00000354841.4	+	6	1091	c.960G>A	c.(958-960)gaG>gaA	p.E320E	FMO1_ENST00000402921.2_Silent_p.E257E|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Silent_p.E320E			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	320					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)					CAAAGGAAGAGCCTATTGACA	0.433000													4	385					0	0	1	0	0
PNMAL1	55228	broad.mit.edu	37	19	46973225	46973225	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:46973225C>T	ENST00000313683.10	-	2	1373	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	PNMAL1_ENST00000438932.2_Silent_p.K356K|PNMAL1_ENST00000602246.1_Intron	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	356										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GAGCGGGGTTCTTGGCAGACA	0.587000													7	753					0	0	1	0	0
ALG10B	144245	broad.mit.edu	37	12	38714227	38714227	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:38714227G>A	ENST00000308742.4	+	3	950	c.634G>A	c.(634-636)Gag>Aag	p.E212K	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	212					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	p.E212Q(1)		breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTGGAAAACTGAGCTACAAAA	0.388000													9	219					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81675169	81675169	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:81675169C>T	ENST00000550584.2	-	26	3374	c.3079G>A	c.(3079-3081)Gaa>Aaa	p.E1027K	PPFIA2_ENST00000552948.1_Missense_Mutation_p.E1006K|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E926K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E1012K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E1012K|PPFIA2_ENST00000541017.1_Missense_Mutation_p.E213K|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E1027K|PPFIA2_ENST00000541570.2_Missense_Mutation_p.E563K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E1021K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E922K|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E874K	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	926								p.E1027K(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GGAAGCCATTCATTTCCAATC	0.393000													52	86					0	0	1	0	0
SSFA2	6744	broad.mit.edu	37	2	182766972	182766972	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:182766972G>C	ENST00000431877.2	+	8	1371	c.1192G>C	c.(1192-1194)Gaa>Caa	p.E398Q	SSFA2_ENST00000409001.1_Missense_Mutation_p.E398Q|SSFA2_ENST00000320370.7_Missense_Mutation_p.E398Q|SSFA2_ENST00000428267.2_Missense_Mutation_p.E245Q	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	398						cytoplasm|plasma membrane	actin binding	p.E398Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ACAAAGTAAAGAAACTCAAAG	0.363000													24	71					0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56178361	56178361	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:56178361G>A	ENST00000399503.3	+	14	3334	c.3334G>A	c.(3334-3336)Gtg>Atg	p.V1112M		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1112					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TGACGAGACAGTGTTCACCCC	0.423000													23	229					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236759191	236759191	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:236759191C>T	ENST00000366582.3	-	7	1012	c.898G>A	c.(898-900)Ggg>Agg	p.G300R	HEATR1_ENST00000483073.1_5'UTR|HEATR1_ENST00000366581.2_Missense_Mutation_p.G300R	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	300					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CAACTTAACCCATCCTTGATC	0.408000													4	195					0	0	1	0	0
BAG6	7917	broad.mit.edu	37	6	31612931	31612931	+	Silent	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:31612931C>G	ENST00000404765.2	-	10	1450	c.1161G>C	c.(1159-1161)cgG>cgC	p.R387R	BAG6_ENST00000362049.6_Silent_p.R387R|BAG6_ENST00000211379.5_Silent_p.R387R|BAG6_ENST00000375976.4_Silent_p.R387R|BAG6_ENST00000375964.6_Silent_p.R393R|BAG6_ENST00000439687.2_Silent_p.R387R			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	393	4 X 29 AA approximate repeats.				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						TTGGGGGGGGCCGAGTCCCAT	0.557000													5	190					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77655603	77655603	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr13:77655603G>A	ENST00000407578.2	-	65	11643	c.11377C>T	c.(11377-11379)Cgc>Tgc	p.R3793C	MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3755C|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.R3755C	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3755	DOC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GACACATAGCGGGCATTGATT	0.413000													4	440					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105421827	105421827	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr14:105421827C>T	ENST00000333244.5	-	5	578	c.459G>A	c.(457-459)ttG>ttA	p.L153L		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	153	PDZ.					nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACCTTCTCTCAAGTTAAAAA	0.582000													8	31					0	0	1	0	0
ZNF511	118472	broad.mit.edu	37	10	135123728	135123728	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr10:135123728C>T	ENST00000359035.3	+	4	493	c.490C>T	c.(490-492)Cac>Tac	p.H164Y	ZNF511_ENST00000361518.5_Missense_Mutation_p.H164Y|ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000368554.4_Missense_Mutation_p.H99Y			Q8NB15	ZN511_HUMAN	zinc finger protein 511	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		CCGGAAGGATCACATGGTGAG	0.552000													34	31					0	0	1	0	0
ARMC8	25852	broad.mit.edu	37	3	137960814	137960814	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:137960814G>A	ENST00000469044.1	+	11	1298	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N	ARMC8_ENST00000538260.1_Missense_Mutation_p.D312N|ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000491704.1_Missense_Mutation_p.D301N|ARMC8_ENST00000489213.1_Missense_Mutation_p.D301N|ARMC8_ENST00000393058.3_Missense_Mutation_p.D333N|ARMC8_ENST00000358441.2_Missense_Mutation_p.D329N|ARMC8_ENST00000485396.1_Missense_Mutation_p.D270N|ARMC8_ENST00000481646.1_Missense_Mutation_p.D329N|ARMC8_ENST00000471453.1_Missense_Mutation_p.D329N|ARMC8_ENST00000470821.1_Missense_Mutation_p.D343N	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	343							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TGCCATCACTGATATTAAAAG	0.373000													139	174					0	0	1	0	0
ADIG	149685	broad.mit.edu	37	20	37209983	37209983	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr20:37209983A>T	ENST00000537425.1	+	1	146	c.75A>T	c.(73-75)ttA>ttT	p.L25F	ADIG_ENST00000373348.3_Missense_Mutation_p.L30F	NM_001018082.1	NP_001018092.1	Q0VDE8	ADIG_HUMAN	adipogenin	30					brown fat cell differentiation|positive regulation of fat cell differentiation|white fat cell differentiation	cytoplasm|integral to membrane|nucleus				endometrium(1)|kidney(1)	2		Myeloproliferative disorder(115;0.00878)				TGCTGTTGTTATTGATCATCT	0.522000													4	289					0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106880627	106880627	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr9:106880627T>A	ENST00000286398.7	+	15	2255	c.1967T>A	c.(1966-1968)gTg>gAg	p.V656E	SMC2_ENST00000374793.3_Missense_Mutation_p.V656E|SMC2_ENST00000303219.8_Missense_Mutation_p.V656E|SMC2_ENST00000374787.3_Missense_Mutation_p.V656E	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	656	Flexible hinge.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GGAGGTGATGTGTTTGATCCT	0.363000													11	97					0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220752837	220752837	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:220752837A>G	ENST00000366918.4	+	2	790	c.193A>G	c.(193-195)Aca>Gca	p.T65A	MARK1_ENST00000402574.1_5'UTR|MARK1_ENST00000472121.1_3'UTR|MARK1_ENST00000366917.4_Missense_Mutation_p.T65A			Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	65	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.T65A(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TTTACAAAAAACAATAGGGAA	0.428000													45	82					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41585811	41585811	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:41585811A>G	ENST00000262415.3	+	16	2497	c.2425A>G	c.(2425-2427)Atc>Gtc	p.I809V	DHX8_ENST00000540306.1_Missense_Mutation_p.I809V	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	809	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	p.I809V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AGAGTTAATTATCCTCCCAGT	0.468000													113	107					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112458444	112458444	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:112458444C>T	ENST00000302475.4	-	4	957	c.394G>A	c.(394-396)Gac>Aac	p.D132N	MCC_ENST00000515367.2_Missense_Mutation_p.D69N|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.D322N	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	132					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TGGTCTTGGTCCATGCTTCGA	0.522000													7	153					0	0	1	0	0
CLC	1178	broad.mit.edu	37	19	40225125	40225125	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:40225125G>A	ENST00000221804.4	-	3	176	c.101C>T	c.(100-102)cCa>cTa	p.P34L		NM_001828.5	NP_001819.2	Q05315	LPPL_HUMAN	Charcot-Leyden crystal galectin	34	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		CTGCAGATATGGTTCATTCCT	0.512000													7	645					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54299115	54299115	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:54299115G>A	ENST00000324134.6	-	9	3264	c.3096C>T	c.(3094-3096)ctC>ctT	p.L1032L	NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000351894.4_Silent_p.L920L|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000535162.1_Intron|NLRP12_ENST00000391773.1_Silent_p.L1033L|NLRP12_ENST00000345770.5_Intron|NLRP12_ENST00000391775.3_Silent_p.L975L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	1032					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCCTCACCAGAGGACTCGGA	0.552000													5	76					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95860093	95860093	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr13:95860093C>T	ENST00000376887.4	-	7	986	c.872G>A	c.(871-873)tGg>tAg	p.W291*	ABCC4_ENST00000536256.1_Nonsense_Mutation_p.W216*|ABCC4_ENST00000431522.1_Nonsense_Mutation_p.W291*|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Nonsense_Mutation_p.W291*	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	291	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TGACTTTTCCCAGGCGTACAT	0.328000													4	31					0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67345004	67345004	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr18:67345004C>T	ENST00000382713.5	+	4	514	c.324C>T	c.(322-324)tgC>tgT	p.C108C	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	108	PH.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				AGCACCTCTGCATGGAGTGTC	0.537000													20	187					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52725484	52725484	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:52725484T>A	ENST00000399231.3	-	2	271		c.e2-2		MYO5A_ENST00000358212.6_Splice_Site|MYO5A_ENST00000356338.6_Splice_Site|MYO5A_ENST00000399233.2_Splice_Site|MYO5A_ENST00000553916.1_Splice_Site	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)						actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CCTGGCAAACTAGAAGACAAA	0.318000													4	147					0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202626521	202626521	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:202626521C>T	ENST00000264276.6	-	4	568	c.196G>A	c.(196-198)Ggg>Agg	p.G66R	ALS2_ENST00000467448.1_Missense_Mutation_p.G66R|ALS2_ENST00000496244.1_5'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	66					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GGAAGAGTCCCAAAGCTGTAG	0.388000													5	146					0	0	1	0	0
TCEANC2	127428	broad.mit.edu	37	1	54562078	54562078	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:54562078G>A	ENST00000234827.1	+	5	759	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	TCEANC2_ENST00000498272.1_3'UTR|TCEANC2_ENST00000371331.1_Missense_Mutation_p.E217K	NM_153035.1	NP_694580.1	Q96MN5	TEAN2_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing 2	187	TFIIS central.				transcription, DNA-dependent	nucleus	DNA binding	p.E187K(1)		kidney(1)|lung(3)|pancreas(1)	5						GCACCGAGCTGAAATCCGGGC	0.572000													22	59					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109794216	109794216	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:109794216C>T	ENST00000271332.3	+	1	1576	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	505	Cadherin 3.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCCCCATCTTCGTCAGCACCC	0.572000													4	115					0	0	1	0	0
PITRM1	10531	broad.mit.edu	37	10	3197825	3197825	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr10:3197825C>T	ENST00000380989.2	-	14	1617	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	PITRM1_ENST00000380994.1_Missense_Mutation_p.E85K|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000224949.4_Missense_Mutation_p.E527K|PITRM1_ENST00000451104.2_Missense_Mutation_p.E495K|PITRM1-AS1_ENST00000601046.1_RNA	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	495					proteolysis		metalloendopeptidase activity|zinc ion binding	p.E527K(1)		breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GACAGAGCCTCGACCTTCTGC	0.557000													89	52					0	0	1	0	0
ILVBL	10994	broad.mit.edu	37	19	15230241	15230241	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:15230241G>A	ENST00000263383.3	-	8	1041	c.902C>T	c.(901-903)gCc>gTc	p.A301V	ILVBL_ENST00000534378.1_Missense_Mutation_p.A194V|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	301						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						AAGCTTGTCGGCAGACGTTGG	0.662000													3	47					0	0	1	0	0
SECISBP2	79048	broad.mit.edu	37	9	91965577	91965577	+	Silent	SNP	G	G	A	rs41288139	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr9:91965577G>A	ENST00000375807.3	+	14	1994	c.1923G>A	c.(1921-1923)gtG>gtA	p.V641V	SECISBP2_ENST00000534113.2_Silent_p.V573V|SECISBP2_ENST00000339901.4_Silent_p.V568V	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	641					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						GTAAAGAAGTGGATGCTTGTG	0.483000													6	498					0	0	1	0	0
RARA	5914	broad.mit.edu	37	17	38506145	38506145	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:38506145A>G	ENST00000254066.5	+	4	892	c.437A>G	c.(436-438)cAg>cGg	p.Q146R	RARA_ENST00000394086.3_Missense_Mutation_p.Q162R|RARA_ENST00000394089.2_Missense_Mutation_p.Q146R|RARA_ENST00000394081.3_Missense_Mutation_p.Q141R|RARA_ENST00000425707.3_Intron	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	146					apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.Q146R(1)		breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TGCCGACTGCAGAAGTGCTTT	0.577000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL								55	9					0	0	1	0	0
IGSF5	150084	broad.mit.edu	37	21	41142841	41142841	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr21:41142841A>T	ENST00000380588.4	+	4	521		c.e4-1		IGSF5_ENST00000479378.1_Splice_Site	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5							integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TTTCTTCTTTAGTTATGGGAG	0.388000													6	196					0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55074670	55074670	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:55074670A>G	ENST00000343744.2	+	16	1752	c.1670A>G	c.(1669-1671)tAt>tGt	p.Y557C	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000371316.3_Intron	NM_147161.3	NP_671517.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	0	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GTTCTCAACTATGTGACCACC	0.587000													4	412					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121415208	121415208	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:121415208C>T	ENST00000393667.3	-	13	4272	c.4162G>A	c.(4162-4164)Ggc>Agc	p.G1388S	GOLGB1_ENST00000340645.5_Missense_Mutation_p.G1383S	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1383					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGTTCTAGGCCAGCAATTTGT	0.423000													4	238					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55505722	55505722	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:55505722C>G	ENST00000543010.1	+	11	2937	c.2794C>G	c.(2794-2796)Ctg>Gtg	p.L932V	NLRP2_ENST00000427260.2_Missense_Mutation_p.L909V|NLRP2_ENST00000339757.7_Missense_Mutation_p.L910V|NLRP2_ENST00000263437.6_Missense_Mutation_p.L929V|NLRP2_ENST00000391721.4_Missense_Mutation_p.L908V|NLRP2_ENST00000448584.2_Missense_Mutation_p.L932V|NLRP2_ENST00000537859.1_Missense_Mutation_p.L910V|NLRP2_ENST00000538819.1_Missense_Mutation_p.L908V	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	932					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTGTTTGGATCTGGGGCTGAA	0.448000													4	374					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121187276	121187276	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:121187276G>A	ENST00000264233.5	-	23	6849	c.6721C>T	c.(6721-6723)Cga>Tga	p.R2241*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2241					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	p.R2376*(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAGGTTATTCGTCCTAAAATC	0.333000								DNA polymerases (catalytic subunits)					80	27					0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	60004006	60004006	+	Silent	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:60004006T>G	ENST00000444766.3	-	2	99	c.24A>C	c.(22-24)atA>atC	p.I8I	INTS2_ENST00000251334.6_5'UTR	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	8					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	p.I8I(1)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						ATTCAGTCATTATTACTGTTT	0.358000													37	6					0	0	1	0	0
CCHCR1	54535	broad.mit.edu	37	6	31111166	31111166	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:31111166C>A	ENST00000396268.3	-	16	2380	c.2192G>T	c.(2191-2193)cGc>cTc	p.R731L	CCHCR1_ENST00000376266.5_Missense_Mutation_p.R642L|CCHCR1_ENST00000396263.2_Missense_Mutation_p.R589L|CCHCR1_ENST00000451521.2_Missense_Mutation_p.R695L	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	642					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	p.R731L(1)|p.R642L(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GGCGGCTCTGCGCTGAATCTG	0.647000													26	21					3.57733e-08	3.71081e-08	1	1	0
SYNRG	11276	broad.mit.edu	37	17	35879057	35879057	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:35879057G>T	ENST00000339208.6	-	22	4071	c.3931C>A	c.(3931-3933)Cct>Act	p.P1311T	SYNRG_ENST00000502449.2_Missense_Mutation_p.P1176T|SYNRG_ENST00000585472.1_Missense_Mutation_p.P1232T|SYNRG_ENST00000345615.4_Missense_Mutation_p.P1221T|SYNRG_ENST00000394378.2_Missense_Mutation_p.P1256T|SYNRG_ENST00000346661.4_Missense_Mutation_p.P1299T|SYNRG_ENST00000591288.1_Missense_Mutation_p.P1105T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1311					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGCAGGTCAGGCAGGACGAGG	0.522000													14	327					1.05317e-09	1.09793e-09	1	1	0
LCN1	3933	broad.mit.edu	37	9	138413417	138413417	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr9:138413417A>G	ENST00000263598.2	+	1	134	c.74A>G	c.(73-75)gAc>gGc	p.D25G	LCN1_ENST00000371781.3_Missense_Mutation_p.D25G	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	25					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity	p.D25G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		CTGGCCTCAGACGAGGAGATT	0.662000													17	9					0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56527596	56527596	+	Missense_Mutation	SNP	G	G	A	rs112882931	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:56527596G>A	ENST00000394048.5	+	13	1676	c.1412G>A	c.(1411-1413)cGa>cAa	p.R471Q	ESYT1_ENST00000541590.1_Missense_Mutation_p.R471Q|ESYT1_ENST00000267113.4_Missense_Mutation_p.R471Q	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	471	C2 2.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GTCTCCTCTCGACCAGATCCC	0.552000													5	200					0	0	1	0	0
NFIL3	4783	broad.mit.edu	37	9	94172340	94172340	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr9:94172340T>C	ENST00000297689.3	-	2	1071	c.677A>G	c.(676-678)gAg>gGg	p.E226G		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	226					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TGTGTAGCTCTCTAATTCCAT	0.488000													7	502					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48511107	48511107	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:48511107A>T	ENST00000446524.1	+	1	839	c.763A>T	c.(763-765)Atg>Ttg	p.M255L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TTGTATTTTTATGTATGCTAG	0.428000													11	1082					0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110030243	110030243	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:110030243G>A	ENST00000369870.3	+	5	532	c.517G>A	c.(517-519)Ggg>Agg	p.G173R		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	173										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CAGCCAGCCAGGGGGCCTCAC	0.577000													4	215					0	0	1	0	0
ANXA4	307	broad.mit.edu	37	2	70045736	70045736	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:70045736G>A	ENST00000394295.4	+	10	882	c.634G>A	c.(634-636)Gat>Aat	p.D212N	ANXA4_ENST00000536030.1_Missense_Mutation_p.D128N|ANXA4_ENST00000409920.1_Missense_Mutation_p.D190N	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	210					anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	p.D212N(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						TGCAGTGTTTGATGAATACAA	0.338000													65	127					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27087903	27087903	+	Silent	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:27087903T>C	ENST00000324856.7	+	6	2561	c.2190T>C	c.(2188-2190)agT>agC	p.S730S	ARID1A_ENST00000374152.2_Silent_p.S347S|ARID1A_ENST00000457599.2_Silent_p.S730S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	730					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.P728fs(1)	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)		GGCCACCCAGTGGCCAGTCGG	0.532000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								3	254					0	0	1	0	0
NUDT16	131870	broad.mit.edu	37	3	131102114	131102114	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:131102114G>A	ENST00000359850.3	+	3	557	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	NUDT16_ENST00000537561.1_Missense_Mutation_p.E127K|NUDT16_ENST00000521288.1_Missense_Mutation_p.E173K|NUDT16_ENST00000502852.1_3'UTR	NM_152395.2	NP_689608.2	Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	173	Nudix hydrolase.					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding			large_intestine(1)|lung(6)	7						GCAGTTACTTGAAGCTCTCCA	0.552000													4	54					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169499033	169499033	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:169499033C>T	ENST00000367796.3	-	16	5448	c.5247G>A	c.(5245-5247)ttG>ttA	p.L1749L	F5_ENST00000367797.3_Silent_p.L1744L			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1744	F5/8 type A 3.|Plastocyanin-like 5.		L -> V (in dbSNP:rs6034).		cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GGGGACCTATCAAGCCTGAGT	0.373000													5	258					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76486590	76486590	+	Silent	SNP	C	C	A	rs151315964		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:76486590C>A	ENST00000307431.8	+	9	1639	c.1254C>A	c.(1252-1254)atC>atA	p.I418I	CNTNAP4_ENST00000377504.4_Silent_p.I370I|CNTNAP4_ENST00000478060.1_Silent_p.I346I|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Silent_p.I422I	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	419	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.I394M(1)|p.I346M(1)|p.I418M(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAGGGGGTATCCTCCTCTTTC	0.458000													7	133					0.000274275	0.000281014	1	1	0
ESPL1	9700	broad.mit.edu	37	12	53684167	53684167	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:53684167A>T	ENST00000257934.4	+	24	5369	c.5278A>T	c.(5278-5280)Atc>Ttc	p.I1760F	ESPL1_ENST00000552462.1_Missense_Mutation_p.I1760F	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1760					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	p.I1760F(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GTTTGATGCCATCCAGAAGGC	0.547000													70	138					0	0	1	0	0
PNMA1	9240	broad.mit.edu	37	14	74179821	74179821	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr14:74179821C>T	ENST00000316836.3	-	1	1307	c.522G>A	c.(520-522)gaG>gaA	p.E174E		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	174					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		caaaggtttcctctccaggcc	0.493000													4	58					0	0	1	0	0
ATP5B	506	broad.mit.edu	37	12	57033957	57033957	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:57033957T>C	ENST00000262030.3	-	8	1144	c.1094A>G	c.(1093-1095)gAt>gGt	p.D365G	ATP5B_ENST00000552919.1_Missense_Mutation_p.D354G|ATP5B_ENST00000550162.1_5'UTR	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	365					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	p.D365G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGTCAAGTCATCAGCAGGCAC	0.483000													50	96					0	0	1	0	0
FAM3C	10447	broad.mit.edu	37	7	121023056	121023056	+	Translation_Start_Site	SNP	A	A	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:121023056A>C	ENST00000359943.3	-	0	181					NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C						multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity			kidney(1)|lung(8)	9	all_neural(327;0.117)					ACTTTTCATTAATATGCTCCT	0.303000													16	28					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178096592	178096592	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:178096592G>A	ENST00000397062.3	-	5	1293	c.739C>T	c.(739-741)Ctt>Ttt	p.L247F	NFE2L2_ENST00000397063.4_Missense_Mutation_p.L231F|NFE2L2_ENST00000464747.1_Missense_Mutation_p.L231F|NFE2L2_ENST00000446151.2_Missense_Mutation_p.L224F	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	247					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAAGCATTAAGAAAATGTGGA	0.403000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			10	121					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38189012	38189012	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:38189012G>A	ENST00000373048.4	-	9	1804	c.1805C>T	c.(1804-1806)gCc>gTc	p.A602V	EPHA10_ENST00000540011.1_Missense_Mutation_p.A97V|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.A602V|EPHA10_ENST00000330210.7_Missense_Mutation_p.A97V	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	602						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTCATCATGGGCATCCCCTCC	0.622000													3	91					0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47119732	47119732	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:47119732C>A	ENST00000290341.3	+	9	1404	c.1070C>A	c.(1069-1071)gCc>gAc	p.A357D	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.A218D	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	357	Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GATGTGGCTGCCATGAGCGTG	0.542000													3	65					1	1	1	1	0
N4BP2	55728	broad.mit.edu	37	4	40123363	40123363	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:40123363C>T	ENST00000261435.6	+	9	4048	c.3632C>T	c.(3631-3633)cCt>cTt	p.P1211L		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1211						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GCTGTCACTCCTGAAAACCAT	0.418000													5	100					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238244811	238244811	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:238244811C>T	ENST00000295550.4	-	40	9384	c.8932G>A	c.(8932-8934)Gct>Act	p.A2978T	COL6A3_ENST00000472056.1_Missense_Mutation_p.A2371T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2772T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2772T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A2777T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2778T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2978	Ala-rich.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.A2978T(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTGGTGGCAGCTGGTTTGGCT	0.587000													22	68					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135441449	135441449	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chrX:135441449A>T	ENST00000394143.1	+	11	7271		c.e11-1		GPR112_ENST00000287534.4_Intron|GPR112_ENST00000370652.1_Splice_Site|GPR112_ENST00000412101.1_Splice_Site|GPR112_ENST00000394141.1_Splice_Site	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCTGCTTTGTAGTTGTGTTTG	0.373000													5	368					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105421823	105421823	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr14:105421823C>T	ENST00000333244.5	-	5	582	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	155	PDZ.					nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATGGCACCTTCTCTCAAGTTA	0.582000													10	32					0	0	1	0	0
ZNF565	147929	broad.mit.edu	37	19	36674268	36674268	+	Silent	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:36674268A>G	ENST00000355114.5	-	5	1446	c.720T>C	c.(718-720)tgT>tgC	p.C240C	ZNF565_ENST00000304116.5_Silent_p.C200C|ZNF565_ENST00000392173.2_Silent_p.C200C			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			AGGCCTTCCCACATTCCTTAC	0.468000													8	180					0	0	1	0	0
UBP1	7342	broad.mit.edu	37	3	33434899	33434899	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:33434899G>A	ENST00000283629.3	-	14	1967	c.1438C>T	c.(1438-1440)Cga>Tga	p.R480*	UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000447368.2_Nonsense_Mutation_p.R444*|UBP1_ENST00000283628.5_Nonsense_Mutation_p.R480*	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	480					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						GCAAGTTTTCGAGCAACTTCT	0.353000													3	57					0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183816775	183816775	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:183816775G>T	ENST00000304685.3	+	4	780	c.319G>T	c.(319-321)Ggc>Tgc	p.G107C	RGL1_ENST00000539189.1_Missense_Mutation_p.G72C|RGL1_ENST00000367531.1_Missense_Mutation_p.G107C|RGL1_ENST00000536277.1_Missense_Mutation_p.G70C|RGL1_ENST00000360851.3_Missense_Mutation_p.G72C	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	72	N-terminal Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CATAAAAGCTGGCACCTTGGA	0.443000													18	486					4.63292e-17	4.87861e-17	1	1	0
MTMR3	8897	broad.mit.edu	37	22	30415933	30415933	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr22:30415933C>T	ENST00000333027.3	+	17	2613	c.2285C>T	c.(2284-2286)tCa>tTa	p.S762L	MTMR3_ENST00000401950.2_Missense_Mutation_p.S762L|MTMR3_ENST00000323630.5_Missense_Mutation_p.S626L|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.S762L|MTMR3_ENST00000406629.1_Missense_Mutation_p.S762L	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	762					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CCTCTGTTCTCACAGGGCATT	0.577000													41	169					0	0	1	0	0
SETMAR	6419	broad.mit.edu	37	3	4355104	4355104	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:4355104G>A	ENST00000358065.4	+	2	746	c.679G>A	c.(679-681)Gag>Aag	p.E227K	SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000430981.1_Missense_Mutation_p.E227K|SETMAR_ENST00000425863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	214	Histone-lysine N-methyltransferase.|SET.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		TCATTCTTGTGAGCCAAACCT	0.378000								Chromatin Structure					5	54					0	0	1	0	0
TUBA4A	7277	broad.mit.edu	37	2	220116808	220116808	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:220116808T>G	ENST00000392088.2	-	2	658	c.103A>C	c.(103-105)Acc>Ccc	p.T35P	TUBA4A_ENST00000248437.4_Missense_Mutation_p.T50P|TUBA4A_ENST00000498660.1_Intron	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	50					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.T50P(1)|p.T35P(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGAAGGTGGTGAAGGAGTCG	0.542000													62	136					0	0	1	0	0
NSMAF	8439	broad.mit.edu	37	8	59506794	59506794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr8:59506794G>A	ENST00000038176.3	-	23	2160	c.1948C>T	c.(1948-1950)Caa>Taa	p.Q650*	NSMAF_ENST00000427130.2_Nonsense_Mutation_p.Q681*	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	650					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CACTGACCTTGGGATGTTGTG	0.428000													42	104					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98736074	98736074	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:98736074C>T	ENST00000477737.1	+	4	594	c.390C>T	c.(388-390)agC>agT	p.S130S	VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Silent_p.S130S	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	130										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCAGCAAGAGCCGGCAGATTT	0.493000													4	332					0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94521373	94521373	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr14:94521373G>A	ENST00000330836.5	-	7	2278	c.2147C>T	c.(2146-2148)cCc>cTc	p.P716L	DDX24_ENST00000544005.1_Missense_Mutation_p.P466L|DDX24_ENST00000555054.1_Missense_Mutation_p.P673L	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	716	Helicase C-terminal.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TGTCTGCACGGGGAACAGTGG	0.458000													10	1288					0	0	1	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158616	26158616	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:26158616C>T	ENST00000289316.2	+	1	243	c.219C>T	c.(217-219)cgC>cgT	p.R73R	HIST1H2BD_ENST00000377777.4_Silent_p.R73R	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	73					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						TCTTCGAGCGCATCGCAGGCG	0.597000													81	512					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579591	7579591	+	Splice_Site	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:7579591C>T	ENST00000420246.2	-	4	229		c.e4-1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(8)|p.0?(8)|p.L35fs*10(3)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAAGGGGGACTGTAGATGGG	0.592000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			7	851					0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119053914	119053914	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:119053914G>A	ENST00000409109.1	+	10	3281	c.2694G>A	c.(2692-2694)gtG>gtA	p.V898V	NLRX1_ENST00000409991.1_Silent_p.V898V|NLRX1_ENST00000525863.1_Intron|NLRX1_ENST00000409265.4_Intron|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000292199.2_Silent_p.V898V			Q86UT6	NLRX1_HUMAN	NLR family member X1	898	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGGTGGTGGTGTCACTGACAG	0.612000													3	66					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28405393	28405393	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:28405393G>T	ENST00000394835.3	+	15	3090	c.2898G>T	c.(2896-2898)gaG>gaT	p.E966D	EFCAB5_ENST00000320856.5_Missense_Mutation_p.E842D|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	966							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ATGCTTTAGAGAGGAGCCACA	0.463000													6	313					2.0095e-06	2.07931e-06	1	1	0
OR1L1	26737	broad.mit.edu	37	9	125424612	125424612	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr9:125424612C>T	ENST00000373686.1	+	1	768	c.768C>T	c.(766-768)gtC>gtT	p.V256V				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V256V(1)		breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						GCTTGGCTGTCATAATGACCC	0.398000													470	249					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72830584	72830584	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:72830584C>G	ENST00000268489.5	-	9	6669	c.5997G>C	c.(5995-5997)aaG>aaC	p.K1999N	ZFHX3_ENST00000397992.5_Missense_Mutation_p.K1085N	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1999					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTGATGACTCTTTAAAATCA	0.443000													8	456					0	0	1	0	0
PIP	5304	broad.mit.edu	37	7	142829297	142829297	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:142829297G>C	ENST00000291009.3	+	1	128	c.88G>C	c.(88-90)Gac>Cac	p.D30H		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	30						extracellular region	actin binding	p.D30H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		CAAAGCTCAGGACAACACGTG	0.537000													167	445					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56481856	56481856	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:56481856C>A	ENST00000267101.3	+	7	1224	c.784C>A	c.(784-786)Cct>Act	p.P262T	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.P203T	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	262					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTGTCCACAGCCTCTTGTCTA	0.512000													4	177					1	1	1	1	0
C4orf21	55345	broad.mit.edu	37	4	113540540	113540540	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:113540540C>T	ENST00000505019.1	-	6	783	c.658G>A	c.(658-660)Gga>Aga	p.G220R	C4orf21_ENST00000309071.5_Missense_Mutation_p.G220R|C4orf21_ENST00000445203.2_Missense_Mutation_p.G189R	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	220										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AGCTTATTTCCAGAATTGACA	0.388000													5	39					0	0	1	0	0
SLC2A13	114134	broad.mit.edu	37	12	40158549	40158549	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:40158549G>A	ENST00000280871.4	-	8	1607	c.1557C>T	c.(1555-1557)ttC>ttT	p.F519F		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	519						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CAGGTGCAAAGAAGACAAGAT	0.338000										HNSCC(50;0.14)			4	199					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167254723	167254723	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:167254723C>T	ENST00000308378.3	-	7	1138	c.833G>A	c.(832-834)gGa>gAa	p.G278E	WDR49_ENST00000476376.1_Missense_Mutation_p.G103E|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.G342E	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	278										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CTGTATACCTCCTTTCCATTC	0.393000													6	190					0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35480663	35480663	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:35480663T>C	ENST00000357182.4	-	5	756	c.529A>G	c.(529-531)Aag>Gag	p.K177E	ZMYM6_ENST00000373340.2_Missense_Mutation_p.K177E|ZMYM6_ENST00000487874.1_Missense_Mutation_p.K177E|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	177					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.K177E(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GGTTTTTTCTTTAGCTCATAA	0.348000													29	40					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460390	107460390	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:107460390C>T	ENST00000409382.3	-	2	654	c.44G>A	c.(43-45)gGa>gAa	p.G15E	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G15E|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G15E	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	15					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						AGCGAATATTCCGAAAAGCAT	0.517000													21	46					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113539199	113539199	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:113539199G>T	ENST00000505019.1	-	6	2124	c.1999C>A	c.(1999-2001)Caa>Aaa	p.Q667K	C4orf21_ENST00000309071.5_Missense_Mutation_p.Q667K|C4orf21_ENST00000445203.2_Missense_Mutation_p.Q636K	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	667								p.Q667K(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTGACTTCTTGAATAGGTTTA	0.313000													6	37					0.0293803	0.0297369	1	1	0
DUOX1	53905	broad.mit.edu	37	15	45433252	45433252	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:45433252G>A	ENST00000321429.4	+	14	1956	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K	DUOX1_ENST00000561166.1_Missense_Mutation_p.E163K|DUOX1_ENST00000389037.3_Missense_Mutation_p.E517K	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	517	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTACTGGTTTGAGAACACCAG	0.617000													13	170					0	0	1	0	0
PDXP	57026	broad.mit.edu	37	22	38055358	38055358	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr22:38055358C>G	ENST00000215904.6	+	1	625	c.569C>G	c.(568-570)aCc>aGc	p.T190S	SH3BP1_ENST00000599616.1_Intron	NM_020315.4	NP_064711.1			pyridoxal (pyridoxine, vitamin B6) phosphatase									p.T190S(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(2)	9	Melanoma(58;0.0574)					GGCAGCCGGACCCCTGGTGAG	0.711000													3	7					0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180904820	180904820	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:180904820A>C	ENST00000367588.4	+	5	1830	c.1775A>C	c.(1774-1776)gAa>gCa	p.E592A	KIAA1614_ENST00000367587.1_Missense_Mutation_p.E213A	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	592								p.E592A(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CTCCACATGGAATGGATCCGG	0.637000													35	61					0	0	1	0	0
SLC14A1	6563	broad.mit.edu	37	18	43314250	43314250	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr18:43314250C>T	ENST00000321925.4	+	5	585	c.353C>T	c.(352-354)gCa>gTa	p.A118V	SLC14A1_ENST00000591943.1_3'UTR|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000535474.1_5'UTR|SLC14A1_ENST00000589700.1_Missense_Mutation_p.A118V|SLC14A1_ENST00000586142.1_Missense_Mutation_p.A118V|SLC14A1_ENST00000502059.2_Missense_Mutation_p.A10V|SLC14A1_ENST00000436407.3_Missense_Mutation_p.A174V|SLC14A1_ENST00000415427.3_Missense_Mutation_p.A174V|SLC14A1_ENST00000402943.2_Missense_Mutation_p.A13V|RP11-116O18.3_ENST00000586213.1_RNA	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	118						integral to plasma membrane	urea transmembrane transporter activity	p.A118V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TCATTAATAGCATCTGGGCTC	0.478000													4	88					0	0	1	0	0
ARMC8	25852	broad.mit.edu	37	3	137960624	137960624	+	Splice_Site	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:137960624G>A	ENST00000469044.1	+	11	1108		c.e11-1		ARMC8_ENST00000538260.1_Splice_Site|ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000491704.1_Splice_Site|ARMC8_ENST00000489213.1_Splice_Site|ARMC8_ENST00000393058.3_Splice_Site|ARMC8_ENST00000358441.2_Splice_Site|ARMC8_ENST00000485396.1_Splice_Site|ARMC8_ENST00000481646.1_Splice_Site|ARMC8_ENST00000471453.1_Splice_Site|ARMC8_ENST00000470821.1_Splice_Site	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8								binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						CTACCTTTCAGACATTACCTT	0.368000													112	144					0	0	1	0	0
CRTC1	23373	broad.mit.edu	37	19	18876286	18876286	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:18876286C>T	ENST00000338797.6	+	10	1032	c.1007C>T	c.(1006-1008)gCa>gTa	p.A336V	CRTC1_ENST00000321949.8_Missense_Mutation_p.A320V|CRTC1_ENST00000601916.1_Missense_Mutation_p.A245V|CRTC1_ENST00000594658.1_Missense_Mutation_p.A279V	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	320	Ser-rich.				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						AGCACAGAGGCAAGGCGTCAG	0.657000													15	101					0	0	1	0	0
RASSF8	11228	broad.mit.edu	37	12	26220645	26220645	+	Splice_Site	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:26220645G>A	ENST00000405154.2	+	4	1336	c.1138_splice	c.e4+1	p.R379_splice	RASSF8_ENST00000541490.1_Splice_Site_p.R379_splice|RASSF8_ENST00000282884.9_Splice_Site_p.R379_splice|RASSF8_ENST00000381352.3_Splice_Site_p.R379_splice|RASSF8_ENST00000542865.1_Splice_Site_p.R379_splice	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	379					signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					ACATTGAAAGGGGTAAGATGT	0.403000													9	263					0	0	1	0	0
UBE3C	9690	broad.mit.edu	37	7	157000395	157000395	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:157000395A>T	ENST00000348165.5	+	13	1936		c.e13-1			NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C						protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGTGTTTTTTAGTTGTAGGTC	0.348000													7	244					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65179106	65179106	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr18:65179106C>T	ENST00000310045.7	-	2	4243	c.2770G>A	c.(2770-2772)Ggg>Agg	p.G924R	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	914						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CGAAAATGCCCACTGCGGATA	0.433000													8	84					0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45502732	45502732	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr21:45502732C>A	ENST00000291574.4	+	14	1962	c.1787C>A	c.(1786-1788)tCc>tAc	p.S596Y		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	596					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			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						TTTGATCCCTCCAATGCCGTG	0.493000													5	591					0.014758	0.01501	1	1	0
TBC1D8B	54885	broad.mit.edu	37	X	106109045	106109045	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chrX:106109045A>T	ENST00000357242.5	+	16	2618	c.2444A>T	c.(2443-2445)tAt>tTt	p.Y815F	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.Y809F	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	815						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTATCTTGTTATTGGTGTTTG	0.343000													7	179					0	0	1	0	0
ALG10B	144245	broad.mit.edu	37	12	38714245	38714245	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:38714245G>A	ENST00000308742.4	+	3	968	c.652G>A	c.(652-654)Gac>Aac	p.D218N	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	218					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AAAGAAGGAAGACAGACTTCC	0.378000													4	181					0	0	1	0	0
AGAP2	116986	broad.mit.edu	37	12	58124279	58124279	+	Splice_Site	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:58124279C>T	ENST00000257897.3	-	12	1504	c.1420_splice	c.e12+1	p.T473_splice	AGAP2_ENST00000547588.1_Splice_Site_p.T809_splice	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	809	G domain.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	p.T809T(1)|p.T473T(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CCCACTGACCCGTGCTGAGGG	0.562000													6	740					0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40123371	40123371	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:40123371C>T	ENST00000261435.6	+	9	4056	c.3640C>T	c.(3640-3642)Cat>Tat	p.H1214Y		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1214						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TCCTGAAAACCATGAATCGAT	0.418000													5	105					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37168957	37168957	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:37168957A>T	ENST00000274258.7	-	34	7396	c.3809T>A	c.(3808-3810)aTa>aAa	p.I1270K	C5orf42_ENST00000508244.1_Missense_Mutation_p.I2390K|C5orf42_ENST00000425232.2_Missense_Mutation_p.I2390K			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2390										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTCTTCTGCTATAGGTTGGAT	0.373000													5	213					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32634384	32634384	+	Silent	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr9:32634384A>G	ENST00000242310.4	-	1	1283	c.1194T>C	c.(1192-1194)tcT>tcC	p.S398S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	398					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCATCATTCTAGATTTTATCA	0.453000													4	380					0	0	1	0	0
EEF1E1	9521	broad.mit.edu	37	6	8080190	8080190	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:8080190G>A	ENST00000379715.5	-	4	514	c.458C>T	c.(457-459)cCa>cTa	p.P153L	EEF1E1-MUTED_ENST00000397456.2_Intron|EEF1E1_ENST00000429723.2_Intron	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	153	GST C-terminal.				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					CCTGATGCCTGGATAATGCTG	0.378000													5	116					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130287215	130287215	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:130287215G>A	ENST00000358511.6	+	5	2199	c.2168G>A	c.(2167-2169)aGa>aAa	p.R723K	COL6A6_ENST00000453409.2_Missense_Mutation_p.R723K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	723	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCCAACATCAGAAAGTTTCTC	0.512000													24	162					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25367255	25367255	+	Silent	SNP	C	C	T	rs141654694		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr13:25367255C>T	ENST00000255324.5	+	10	1063	c.1011C>T	c.(1009-1011)taC>taT	p.Y337Y	RNF17_ENST00000255325.5_Silent_p.Y338Y|RNF17_ENST00000381921.1_Silent_p.Y337Y|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	337					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.Y337Y(2)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTTCTTGTTACGATACATACC	0.348000													5	320					0	0	1	0	0
VPS35	55737	broad.mit.edu	37	16	46705623	46705623	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:46705623C>T	ENST00000299138.7	-	12	1576	c.1518G>A	c.(1516-1518)caG>caA	p.Q506Q		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	506					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ATACCAAGTACTGCTGGTCAG	0.448000													8	109					0	0	1	0	0
FBXO38	81545	broad.mit.edu	37	5	147788696	147788696	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:147788696G>A	ENST00000340253.5	+	8	1046	c.878G>A	c.(877-879)aGa>aAa	p.R293K	FBXO38_ENST00000394370.3_Missense_Mutation_p.R293K|FBXO38_ENST00000513826.1_Missense_Mutation_p.R293K|FBXO38_ENST00000296701.6_Missense_Mutation_p.R293K|FBXO38_ENST00000509699.2_3'UTR			Q6PIJ6	FBX38_HUMAN	F-box protein 38	293						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGTTTTAGAAATTTGCAC	0.348000													9	363					0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92987688	92987688	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:92987688T>A	ENST00000544910.1	+	29	2965	c.2745T>A	c.(2743-2745)aaT>aaA	p.N915K	CCDC132_ENST00000535481.1_Missense_Mutation_p.N665K|CCDC132_ENST00000305866.5_Missense_Mutation_p.N945K|CCDC132_ENST00000541136.1_3'UTR	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	945										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CCCATATCAATAAGAAAGCAA	0.388000													5	171					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186086589	186086589	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:186086589A>T	ENST00000271588.4	+	77	11912		c.e77-1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGTTGTTTTAGTTCCACCTT	0.403000													5	120					0	0	1	0	0
NUAK2	81788	broad.mit.edu	37	1	205272959	205272959	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:205272959G>A	ENST00000367157.3	-	7	1632	c.1506C>T	c.(1504-1506)ctC>ctT	p.L502L		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	502					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CATTGAGTTTGAGGATGCCTT	0.642000													7	72					0	0	1	0	0
ARMC8	25852	broad.mit.edu	37	3	137960639	137960639	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:137960639G>A	ENST00000469044.1	+	11	1123	c.852G>A	c.(850-852)ttG>ttA	p.L284L	ARMC8_ENST00000538260.1_Silent_p.L253L|ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000491704.1_Silent_p.L242L|ARMC8_ENST00000489213.1_Silent_p.L242L|ARMC8_ENST00000393058.3_Silent_p.L274L|ARMC8_ENST00000358441.2_Silent_p.L270L|ARMC8_ENST00000485396.1_Silent_p.L211L|ARMC8_ENST00000481646.1_Silent_p.L270L|ARMC8_ENST00000471453.1_Silent_p.L270L|ARMC8_ENST00000470821.1_Silent_p.L284L	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	284							binding	p.L270F(2)		endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TACCTTGTTTGGTTCGAATGT	0.378000													178	178					0	0	1	0	0
SHOC2	8036	broad.mit.edu	37	10	112724542	112724542	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr10:112724542G>A	ENST00000369452.4	+	2	771	c.426G>A	c.(424-426)gtG>gtA	p.V142V	SHOC2_ENST00000265277.5_Silent_p.V142V|SHOC2_ENST00000489390.1_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	142					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		CAGCAGAGGTGGGATGTTTAG	0.383000													4	116					0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145666428	145666428	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr8:145666428A>T	ENST00000409379.3	-	8	961	c.932T>A	c.(931-933)aTg>aAg	p.M311K		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	311					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	p.M311K(1)|p.M152K(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						ACAGATGACCATGGCACCCTG	0.637000													5	9					0	0	1	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947012	57947012	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:57947012A>T	ENST00000335397.3	+	3	412	c.96A>T	c.(94-96)ttA>ttT	p.L32F		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TCTTGTTTTTATTTATGTATC	0.448000													10	416					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7651778	7651778	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:7651778G>A	ENST00000359156.4	-	4	666	c.464C>T	c.(463-465)tCc>tTc	p.S155F	CD163_ENST00000432237.2_Missense_Mutation_p.S155F|CD163_ENST00000396620.3_Missense_Mutation_p.S155F|CD163_ENST00000541972.1_Missense_Mutation_p.S143F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	155					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TTCCAAATTGGATCCATCTGG	0.408000													10	548					0	0	1	0	0
RHD	6007	broad.mit.edu	37	1	25628086	25628086	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:25628086C>T	ENST00000328664.4	+	5	865	c.710C>T	c.(709-711)gCc>gTc	p.A237V	RHD_ENST00000342055.5_Missense_Mutation_p.A237V|RHD_ENST00000357542.4_Missense_Mutation_p.A237V|RHD_ENST00000417538.2_Missense_Mutation_p.A237V|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000568195.1_Missense_Mutation_p.A237V|RHD_ENST00000454452.2_Missense_Mutation_p.A237V|RHD_ENST00000423810.2_Missense_Mutation_p.A237V	NM_016124.3	NP_057208.2	Q02161	RHD_HUMAN	Rh blood group, D antigen	237						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGAAGAATGCCGTGTTCAAC	0.557000													5	709					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215690	20215690	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr14:20215690A>T	ENST00000331723.1	+	1	104	c.104A>T	c.(103-105)tAc>tTc	p.Y35F		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGTTTTTTTACATTGCTATT	0.378000													8	299					0	0	1	0	0
USP32P2	220594	broad.mit.edu	37	17	18420715	18420715	+	RNA	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:18420715G>A	ENST00000425211.1	-	0	1762																											AAACTTTCCCGAGGAAATTTG	0.443000													27	28					0	0	1	0	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130653221	130653221	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr9:130653221G>A	ENST00000373146.1	-	5	578	c.399C>T	c.(397-399)atC>atT	p.I133I	ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373142.1_Silent_p.I133I|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000373141.1_Silent_p.I99I|ST6GALNAC6_ENST00000373144.3_Silent_p.I99I|ST6GALNAC6_ENST00000291839.5_Silent_p.I133I			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	133					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CATTCATGCGGATTGTACACT	0.607000													4	20					0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61463591	61463591	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr18:61463591A>G	ENST00000398019.2	+	5	753	c.428A>G	c.(427-429)aAt>aGt	p.N143S	SERPINB7_ENST00000336429.2_Missense_Mutation_p.N143S|SERPINB7_ENST00000546027.1_Missense_Mutation_p.N143S|SERPINB7_ENST00000540675.1_Missense_Mutation_p.N126S	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	143					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	p.N143S(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CGTAATATTAATAAGTGGGTT	0.353000													38	18					0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20727828	20727828	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:20727828T>C	ENST00000427401.4	-	4	1275	c.1181A>G	c.(1180-1182)gAg>gGg	p.E394G		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	394					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.E393G(1)		breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GTAGGGTTTCTCTCCAGTATG	0.408000													20	57					0	0	1	0	0
IQCK	124152	broad.mit.edu	37	16	19746673	19746673	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:19746673A>T	ENST00000320394.6	+	5	1075		c.e5-1		IQCK_ENST00000564186.1_Splice_Site|IQCK_ENST00000541926.1_Splice_Site|IQCK_ENST00000433597.2_Splice_Site	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K											kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						TGTTTGTTTTAGGTTCTCCCA	0.428000													4	83					0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52851529	52851529	+	Silent	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:52851529T>A	ENST00000371568.3	-	9	1694	c.1476A>T	c.(1474-1476)cgA>cgT	p.R492R	ORC1_ENST00000371566.1_Silent_p.R492R	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	492					cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	p.R492R(1)		breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGTACCTCAGTCGGGCTTCCT	0.542000													11	41					0	0	1	0	0
THYN1	29087	broad.mit.edu	37	11	134118717	134118717	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:134118717T>C	ENST00000341541.3	-	6	1078	c.617A>G	c.(616-618)cAg>cGg	p.Q206R	THYN1_ENST00000352327.5_Intron|THYN1_ENST00000392595.2_Missense_Mutation_p.Q206R|THYN1_ENST00000392594.3_Missense_Mutation_p.Q206R	NM_014174.2	NP_054893.1	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1	206						nucleus		p.Q206R(1)		endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-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;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		ggtcagggGCTGGATTGATAA	0.468000													5	56					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582000													4	97					0	0	1	0	0
ASB13	79754	broad.mit.edu	37	10	5690940	5690940	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr10:5690940G>A	ENST00000357700.6	-	4	536	c.510C>T	c.(508-510)ctC>ctT	p.L170L	ASB13_ENST00000479033.1_5'UTR	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	170					intracellular signal transduction		protein binding			NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		CACCTGCATTGAGCAGCACTT	0.587000													24	185					0	0	1	0	0
FSIP1	161835	broad.mit.edu	37	15	40068678	40068678	+	Silent	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:40068678T>A	ENST00000350221.3	-	2	257	c.48A>T	c.(46-48)tcA>tcT	p.S16S	RP11-37C7.1_ENST00000558616.1_RNA	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	16								p.S16S(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TTCTTGAATTTGAAGCTGGTT	0.358000													59	80					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839353	62839353	+	Silent	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr20:62839353A>G	ENST00000536311.1	+	7	1168	c.804A>G	c.(802-804)gaA>gaG	p.E268E	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.E268E			Q01538	MYT1_HUMAN	myelin transcription factor 1	268	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E268E(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaagaggaggagg	0.572000													3	18					0	0	1	0	0
MDH1	4190	broad.mit.edu	37	2	63834039	63834039	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:63834039T>A	ENST00000233114.8	+	9	1358	c.923T>A	c.(922-924)tTc>tAc	p.F308Y	MDH1_ENST00000409908.1_Missense_Mutation_p.F143Y|MDH1_ENST00000409476.1_Missense_Mutation_p.F184Y|MDH1_ENST00000544381.1_Missense_Mutation_p.F219Y|MDH1_ENST00000539945.1_Missense_Mutation_p.F326Y|MDH1_ENST00000394423.1_Missense_Mutation_p.F308Y	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)	308					gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity	p.F308Y(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13					NADH(DB00157)	ATTAATGATTTCTCACGTGAG	0.353000													14	39					0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42163859	42163859	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr8:42163859A>T	ENST00000520810.1	+	7	663		c.e7-1		IKBKB_ENST00000520835.1_Splice_Site|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000416505.2_Splice_Site|IKBKB_ENST00000519735.1_Splice_Site	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta						anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	CTTTTGTTTTAGTTAATACAC	0.438000													5	71					0	0	1	0	0
ARMC8	25852	broad.mit.edu	37	3	137960824	137960824	+	Splice_Site	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:137960824G>A	ENST00000469044.1	+	11	1308	c.1038_splice	c.e11+1	p.R346_splice	ARMC8_ENST00000538260.1_Splice_Site_p.R315_splice|ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000491704.1_Splice_Site_p.R304_splice|ARMC8_ENST00000489213.1_Splice_Site_p.R304_splice|ARMC8_ENST00000393058.3_Splice_Site_p.R336_splice|ARMC8_ENST00000358441.2_Splice_Site_p.R332_splice|ARMC8_ENST00000485396.1_Splice_Site_p.R273_splice|ARMC8_ENST00000481646.1_Splice_Site_p.R332_splice|ARMC8_ENST00000471453.1_Splice_Site_p.R332_splice|ARMC8_ENST00000470821.1_Splice_Site_p.R346_splice	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	346							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						GATATTAAAAGGGTATGTTAT	0.378000													104	143					0	0	1	0	0
XRCC1	7515	broad.mit.edu	37	19	44055819	44055819	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:44055819G>A	ENST00000262887.5	-	10	1650	c.1103C>T	c.(1102-1104)cCc>cTc	p.P368L	XRCC1_ENST00000543982.1_Missense_Mutation_p.P337L			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	368	BRCT 1.				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				GCTGTACTTGGGGGTGTTGGC	0.617000								Other BER factors					8	326					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112458445	112458445	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:112458445C>T	ENST00000302475.4	-	4	956	c.393G>A	c.(391-393)atG>atA	p.M131I	MCC_ENST00000515367.2_Missense_Mutation_p.M68I|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.M321I	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	131					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GGTCTTGGTCCATGCTTCGAG	0.522000													8	157					0	0	1	0	0
ZYG11B	79699	broad.mit.edu	37	1	53245634	53245634	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:53245634T>A	ENST00000294353.6	+	4	1206	c.1061T>A	c.(1060-1062)gTg>gAg	p.V354E	ZYG11B_ENST00000443756.2_Missense_Mutation_p.V354E|ZYG11B_ENST00000545132.1_Missense_Mutation_p.V354E	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	354							protein binding	p.V354E(1)		breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						CTGACTCATGTGATGGAAAAA	0.363000													53	86					0	0	1	0	0
ACY1	95	broad.mit.edu	37	3	52012054	52012054	+	Missense_Mutation	SNP	G	G	A	rs140557711	by1000genomes	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:52012054G>A	ENST00000458031.2	+	2	323	c.92G>A	c.(91-93)cGc>cAc	p.R31H	ABHD14B_ENST00000483233.1_Intron|ABHD14A_ENST00000491470.1_Silent_p.S79S|ABHD14A-ACY1_ENST00000463937.1_Silent_p.S79S|ABHD14A_ENST00000273596.3_Silent_p.S79S			Q03154	ACY1_HUMAN	aminoacylase 1	0					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity	p.S79S(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	CTGGCAACTCGCCCATCTTTT	0.617000													14	7					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15742486	15742486	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:15742486G>A	ENST00000281171.4	+	25	3838	c.3508G>A	c.(3508-3510)Gaa>Aaa	p.E1170K	PTPRO_ENST00000544244.1_Missense_Mutation_p.E331K|PTPRO_ENST00000445537.2_Missense_Mutation_p.E359K|PTPRO_ENST00000542557.1_Missense_Mutation_p.E331K|PTPRO_ENST00000442921.2_Missense_Mutation_p.E359K|PTPRO_ENST00000348962.2_Missense_Mutation_p.E1142K	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1170	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GCTGGTGTCAGAAATGAGGTC	0.443000													7	287					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128297850	128297850	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:128297850C>T	ENST00000368227.3	-	28	4338	c.3972G>A	c.(3970-3972)atG>atA	p.M1324I	PTPRK_ENST00000368215.3_Missense_Mutation_p.M1306I|PTPRK_ENST00000532331.1_Missense_Mutation_p.M1329I|PTPRK_ENST00000368213.5_Missense_Mutation_p.M1313I|PTPRK_ENST00000368207.3_Missense_Mutation_p.M1339I|PTPRK_ENST00000368226.4_Missense_Mutation_p.M1307I|PTPRK_ENST00000368210.3_Missense_Mutation_p.M1325I			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1306	Tyrosine-protein phosphatase 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CATCACAGTCCATTGAACAAG	0.438000													4	83					0	0	1	0	0
PQLC3	130814	broad.mit.edu	37	2	11304356	11304356	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:11304356C>A	ENST00000295083.3	+	4	498	c.323C>A	c.(322-324)gCc>gAc	p.A108D	PQLC3_ENST00000441908.2_Missense_Mutation_p.A108D|PQLC3_ENST00000476787.1_Intron|PQLC3_ENST00000402361.1_Missense_Mutation_p.A108D	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	108						integral to membrane		p.A108D(1)		kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		TTCATCCTTGCCCTGCAGAAG	0.458000													46	83					3.76628e-20	3.99629e-20	1	1	0
IGKV1-6	28943	broad.mit.edu	37	2	89265853	89265853	+	RNA	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:89265853G>A	ENST00000464162.1	-	0	307																											TGGTGAGAGTGAAATCTGTGC	0.478000													6	309					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170096194	170096194	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:170096194G>A	ENST00000263816.3	-	26	4422	c.4137C>T	c.(4135-4137)ttC>ttT	p.F1379F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1379	EGF-like 5.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGGCAAGTAAGAATCCCAATG	0.428000													46	219					0	0	1	0	0
HIST1H2BL	8340	broad.mit.edu	37	6	27775524	27775524	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:27775524C>T	ENST00000377401.2	-	1	185	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	54					nucleosome assembly	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						AGAAGAGATGCCGGTGTCGGG	0.582000													4	177					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325175	152325175	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:152325175T>C	ENST00000388718.5	-	3	5159	c.5087A>G	c.(5086-5088)cAt>cGt	p.H1696R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1696							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)			TGTCTGTCCATGAGTAGTTCC	0.493000													19	1240					0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202626520	202626520	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:202626520C>T	ENST00000264276.6	-	4	569	c.197G>A	c.(196-198)gGg>gAg	p.G66E	ALS2_ENST00000467448.1_Missense_Mutation_p.G66E|ALS2_ENST00000496244.1_5'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	66					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GGGAAGAGTCCCAAAGCTGTA	0.383000													5	149					0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33725901	33725901	+	Silent	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:33725901C>A	ENST00000399362.4	-	6	947	c.594G>T	c.(592-594)gtG>gtT	p.V198V	CLASP2_ENST00000468888.2_Silent_p.V198V|CLASP2_ENST00000359576.5_Silent_p.V198V|CLASP2_ENST00000307312.7_5'UTR	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	198								p.V198V(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CTTTTTCTCCCACATGTCTAT	0.318000													59	61					4.97629e-18	5.26678e-18	1	1	0
EMC1	23065	broad.mit.edu	37	1	19559502	19559502	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:19559502G>A	ENST00000477853.1	-	14	1602	c.1560C>T	c.(1558-1560)atC>atT	p.I520I	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Silent_p.I519I|EMC1_ENST00000375208.3_Silent_p.I498I	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1																		TGTCAATGTTGATCTCATTCT	0.493000													9	452					0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30868348	30868348	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:30868348G>A	ENST00000265299.6	+	6	1204	c.1127G>A	c.(1126-1128)cGg>cAg	p.R376Q	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	376										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGTGCCCTGCGGCTCGGTAGG	0.577000													287	1074					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43306092	43306092	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:43306092C>T	ENST00000361428.2	-	10	5721	c.5644G>A	c.(5644-5646)Gat>Aat	p.D1882N	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1882					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ACAGGTGTATCTTGTGGGTTG	0.418000													13	144					0	0	1	0	0
TMCC3	57458	broad.mit.edu	37	12	94965356	94965356	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:94965356G>A	ENST00000261226.4	-	4	1420	c.1289C>T	c.(1288-1290)tCc>tTc	p.S430F	TMCC3_ENST00000551457.1_Missense_Mutation_p.S399F	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	430						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CGCGATGGTGGACACACACAC	0.493000													140	778					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65179125	65179125	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr18:65179125C>T	ENST00000310045.7	-	2	4224	c.2751G>A	c.(2749-2751)aaG>aaA	p.K917K	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	907						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TATCTGACACCTTCCATTCAC	0.423000													9	85					0	0	1	0	0
ALG10B	144245	broad.mit.edu	37	12	38714411	38714411	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:38714411G>A	ENST00000308742.4	+	3	1134	c.818G>A	c.(817-819)gGa>gAa	p.G273E	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	273					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				GTTAATGGTGGAATTGTTATT	0.358000													9	240					0	0	1	0	0
SEPT10	151011	broad.mit.edu	37	2	110350690	110350690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:110350690G>A	ENST00000356688.4	-	2	352	c.37C>T	c.(37-39)Cag>Tag	p.Q13*	SEPT10_ENST00000545389.1_Nonsense_Mutation_p.Q13*|SEPT10_ENST00000437928.1_5'UTR|SEPT10_ENST00000415095.1_Nonsense_Mutation_p.Q13*|SEPT10_ENST00000397712.2_Nonsense_Mutation_p.Q13*|SEPT10_ENST00000397714.2_Intron|SEPT10_ENST00000334001.6_5'UTR			Q9P0V9	SEP10_HUMAN	septin 10	13					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						ATGTGAGACTGAAAGAGCTAA	0.328000													10	262					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17575701	17575701	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:17575701G>A	ENST00000375460.3	+	1	109	c.69G>A	c.(67-69)gtG>gtA	p.V23V		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	23					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGGCTGGCGTGGAGACCCTCG	0.612000													27	213					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54758770	54758770	+	Silent	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:54758770G>C	ENST00000450632.1	-	6	1133	c.1056C>G	c.(1054-1056)gcC>gcG	p.A352A	LILRB5_ENST00000345866.6_Silent_p.A261A|LILRB5_ENST00000449561.2_Silent_p.A361A|LILRB5_ENST00000316219.5_Silent_p.A361A			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	361	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	p.A361A(1)|p.A352A(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCGGGGGATGGGCTGCCCCCT	0.552000													30	43					0	0	1	0	0
TGFBR2	7048	broad.mit.edu	37	3	30713692	30713692	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:30713692G>A	ENST00000295754.5	+	4	1399	c.1017G>A	c.(1015-1017)cgG>cgA	p.R339R	TGFBR2_ENST00000359013.4_Silent_p.R364R	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	339	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ACCTGACGCGGCATGTCATCA	0.612000													4	341					0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36045932	36045932	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:36045932C>T	ENST00000262623.3	-	16	2401	c.2373G>A	c.(2371-2373)ttG>ttA	p.L791L		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	791					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TGTTCTTGGTCAATGTGTAGG	0.572000													5	381					0	0	1	0	0
RBM41	55285	broad.mit.edu	37	X	106310925	106310925	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chrX:106310925T>A	ENST00000372487.1	-	7	1102		c.e7-2		RBM41_ENST00000372479.3_Splice_Site	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41								nucleotide binding|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						TCTCCTTATCTAAAAGAGAAA	0.308000													4	68					0	0	1	0	0
MFRP	83552	broad.mit.edu	37	11	119212284	119212284	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:119212284C>A	ENST00000555262.1	-	13	1873	c.1714G>T	c.(1714-1716)Gac>Tac	p.D572Y	MFRP_ENST00000449574.2_Missense_Mutation_p.D572Y|MFRP_ENST00000360167.4_Missense_Mutation_p.D454Y|MFRP_ENST00000530681.1_Missense_Mutation_p.D572Y|C1QTNF5_ENST00000445041.2_5'UTR	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein									p.D572Y(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GCTTCCAGGTCAGCTGCCTCT	0.662000													3	4					0.115264	0.11638	1	1	0
KRBA1	84626	broad.mit.edu	37	7	149418599	149418599	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:149418599G>A	ENST00000255992.10	+	5	838	c.439G>A	c.(439-441)Ggg>Agg	p.G147R	KRBA1_ENST00000485033.2_Missense_Mutation_p.G147R|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Missense_Mutation_p.G147R	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	147										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AACTGGTGACGGGGTCCAGGG	0.637000													3	27					0	0	1	0	0
FMO5	2330	broad.mit.edu	37	1	146672922	146672922	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:146672922T>A	ENST00000254090.4	-	7	1383	c.995A>T	c.(994-996)tAt>tTt	p.Y332F	RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000369272.3_Intron|FMO5_ENST00000441068.2_Missense_Mutation_p.Y332F	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	332						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	p.Y332F(2)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GTCAAAGCTATAGCCTGTGGC	0.438000													25	287					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20071504	20071504	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr20:20071504G>A	ENST00000245957.5	+	7	659	c.583G>A	c.(583-585)Gat>Aat	p.D195N	C20orf26_ENST00000377306.1_Missense_Mutation_p.D195N|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.D195N	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	195								p.D195N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AGACCATGACGATCTCATGCC	0.438000													37	1052					0	0	1	0	0
SLC25A17	10478	broad.mit.edu	37	22	41190586	41190586	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr22:41190586T>A	ENST00000435456.2	-	3	249		c.e3-2		SLC25A17_ENST00000542412.1_Intron|SLC25A17_ENST00000544408.1_Splice_Site|SLC25A17_ENST00000491545.1_Splice_Site	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17						fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						TCTCATCAACTACAAGACCAA	0.383000													4	175					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238285451	238285451	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:238285451G>A	ENST00000295550.4	-	7	3486	c.3034C>T	c.(3034-3036)Ctc>Ttc	p.L1012F	COL6A3_ENST00000472056.1_Missense_Mutation_p.L405F|COL6A3_ENST00000353578.4_Missense_Mutation_p.L806F|COL6A3_ENST00000409809.1_Missense_Mutation_p.L806F|COL6A3_ENST00000347401.3_Missense_Mutation_p.L811F|COL6A3_ENST00000392003.2_Missense_Mutation_p.L605F|COL6A3_ENST00000346358.4_Missense_Mutation_p.L812F|COL6A3_ENST00000392004.3_Missense_Mutation_p.L806F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1012	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GATTTTAAGAGATTCACTATC	0.493000													8	1041					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	G	A	rs146082308		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:7810767G>A	ENST00000315599.7	-	4	407	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000394173.4_Intron|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.R129W(4)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCGGGTCAGCTCC	0.567000													7	603					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63000819	63000819	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:63000819G>C	ENST00000561311.1	+	20	2521	c.2291G>C	c.(2290-2292)aGt>aCt	p.S764T	TLN2_ENST00000306829.6_Missense_Mutation_p.S764T			Q9Y4G6	TLN2_HUMAN	talin 2	764					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.S764T(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACTACCGATAGTGAGCTCCTG	0.652000													28	46					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153915470	153915470	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:153915470C>T	ENST00000361217.4	-	3	872	c.454G>A	c.(454-456)Gag>Aag	p.E152K		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	152	MABP.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTGCCCCCTCTGCTGCCCGC	0.662000													10	58					0	0	1	0	0
CAST	831	broad.mit.edu	37	5	96101025	96101025	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:96101025T>A	ENST00000395813.1	+	26	2219	c.2033T>A	c.(2032-2034)gTa>gAa	p.V678E	ERAP1_ENST00000296754.3_Intron|CAST_ENST00000395812.2_Missense_Mutation_p.V637E|CAST_ENST00000325674.7_Missense_Mutation_p.V643E|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000515663.1_Missense_Mutation_p.V318E|CAST_ENST00000309190.5_Missense_Mutation_p.V573E|CAST_ENST00000338252.3_Missense_Mutation_p.V582E|CAST_ENST00000341926.3_Missense_Mutation_p.V595E|CAST_ENST00000359176.4_Missense_Mutation_p.V659E|CAST_ENST00000511782.1_Missense_Mutation_p.V581E|CAST_ENST00000511049.1_Missense_Mutation_p.V580E|CAST_ENST00000510756.1_Missense_Mutation_p.V656E|CAST_ENST00000504465.1_Missense_Mutation_p.V523E|CAST_ENST00000508579.1_Missense_Mutation_p.V310E|CAST_ENST00000509903.1_Missense_Mutation_p.V560E|CAST_ENST00000508830.1_Missense_Mutation_p.V678E|CAST_ENST00000508608.1_Missense_Mutation_p.V641E			P20810	ICAL_HUMAN	calpastatin	595							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		GAAGATAAAGTAAAGGTaaaa	0.348000													7	95					0	0	1	0	0
RASEF	158158	broad.mit.edu	37	9	85637266	85637266	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr9:85637266A>T	ENST00000376447.3	-	3	914	c.654T>A	c.(652-654)caT>caA	p.H218Q		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	218					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TCCGTGTCTTATGTTCTGCAG	0.493000													5	312					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143081369	143081369	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:143081369G>C	ENST00000367603.2	-	9	6798	c.6056C>G	c.(6055-6057)cCt>cGt	p.P2019R	HIVEP2_ENST00000367604.1_Missense_Mutation_p.P2019R|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P2019R	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2019					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P2019R(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CATACAACTAGGTATGTCCAA	0.483000													349	247					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77327081	77327081	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:77327081G>A	ENST00000282849.5	-	20	3499	c.3081C>T	c.(3079-3081)ccC>ccT	p.P1027P		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1027	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACTGGCTCTCGGGGAGGGTTT	0.567000													22	232					0	0	1	0	0
WDR19	57728	broad.mit.edu	37	4	39196168	39196168	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:39196168C>T	ENST00000399820.3	+	5	449	c.295C>T	c.(295-297)Caa>Taa	p.Q99*	WDR19_ENST00000506503.1_Nonsense_Mutation_p.Q99*|WDR19_ENST00000288634.7_Intron	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	99					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TTACAGGGATCAAATGTCTTT	0.313000													3	20					0	0	1	0	0
HKR1	284459	broad.mit.edu	37	19	37854575	37854575	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:37854575G>A	ENST00000591471.1	+	9	2700	c.1059G>A	c.(1057-1059)caG>caA	p.Q353Q	HKR1_ENST00000589392.1_Silent_p.Q608Q|HKR1_ENST00000392153.3_Silent_p.Q607Q|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000544914.1_Silent_p.Q353Q|HKR1_ENST00000541583.2_Silent_p.Q565Q|HKR1_ENST00000324411.4_Silent_p.Q626Q			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	626					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTAGACACCAGAGGACACATT	0.517000													12	241					0	0	1	0	0
CHKB	1120	broad.mit.edu	37	22	51018846	51018846	+	Splice_Site	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr22:51018846C>T	ENST00000406938.2	-	6	895		c.e6-1		CHKB_ENST00000463053.1_Splice_Site	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta						phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		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)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	TAGTAACTTCCTACAGGGGTA	0.547000													13	101					0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61987236	61987236	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:61987236C>G	ENST00000450719.3	-	3	712	c.475G>C	c.(475-477)Gac>Cac	p.D159H	CSHL1_ENST00000309894.5_Missense_Mutation_p.Q168H|CSHL1_ENST00000561003.1_Missense_Mutation_p.D170H|CSHL1_ENST00000259003.10_Missense_Mutation_p.Q106H|CSHL1_ENST00000438387.2_Missense_Mutation_p.Q85H|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Missense_Mutation_p.Q74H			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						GCTTGAGGGTCTGCCCAGTCA	0.547000													15	464					0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62676204	62676204	+	Silent	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:62676204T>A	ENST00000498273.1	+	4	2053	c.1758T>A	c.(1756-1758)ctT>ctA	p.L586L		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	586										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						TCACCAAACTTAAGAAAACAG	0.368000													6	125					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541011	133541011	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:133541011C>T	ENST00000409261.1	-	14	3746	c.3373G>A	c.(3373-3375)Gcc>Acc	p.A1125T	NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1125T|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1125	Ser-rich.						protein binding	p.A1125S(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGGCTTTTGGCGGGTGATGAG	0.502000													4	418					0	0	1	0	0
CPSF4	10898	broad.mit.edu	37	7	99047957	99047957	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:99047957G>T	ENST00000436336.2	+	4	527	c.366G>T	c.(364-366)aaG>aaT	p.K122N	CPSF4_ENST00000441580.1_Missense_Mutation_p.K69N|CPSF4_ENST00000471455.1_3'UTR|CPSF4_ENST00000292476.5_Missense_Mutation_p.K122N|PTCD1_ENST00000555673.1_Intron|ATP5J2_ENST00000466753.1_Intron|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000451876.1_Intron	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	122					modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding	p.K122N(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCAAGATCAAGGACTGTCCTT	0.622000													18	58					4.63292e-17	4.87861e-17	1	1	0
PHF3	23469	broad.mit.edu	37	6	64389899	64389899	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:64389899A>T	ENST00000262043.3	+	3	584		c.e3-1		PHF3_ENST00000509330.1_Splice_Site|PHF3_ENST00000393387.1_Splice_Site			Q92576	PHF3_HUMAN	PHD finger protein 3						multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTTTTTTTCTAGTTGTTGGTC	0.308000													4	89					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151859400	151859400	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:151859400G>A	ENST00000355193.2	-	43	11480	c.11262C>T	c.(11260-11262)tcC>tcT	p.S3754S	KMT2C_ENST00000262189.6_Silent_p.S3754S					lysine (K)-specific methyltransferase 2C																		TCTGTGCTGAGGAGACAGGAC	0.493000													5	207					0	0	1	0	0
CD48	962	broad.mit.edu	37	1	160654785	160654785	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:160654785C>G	ENST00000368045.3	-	2	316	c.277G>C	c.(277-279)Gca>Cca	p.A93P	CD48_ENST00000368046.3_Missense_Mutation_p.A93P			P09326	CD48_HUMAN	CD48 molecule	93	Ig-like C2-type 1.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATGTACAGTGCGCCACTCTGA	0.423000													8	719					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105421825	105421825	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr14:105421825C>T	ENST00000333244.5	-	5	580	c.461G>A	c.(460-462)aGa>aAa	p.R154K		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	154	PDZ.					nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCACCTTCTCTCAAGTTAAA	0.582000													9	32					0	0	1	0	0
KBTBD7	84078	broad.mit.edu	37	13	41767977	41767977	+	Silent	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr13:41767977G>T	ENST00000379483.3	-	1	725	c.417C>A	c.(415-417)gcC>gcA	p.A139A		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	139							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GCTGCACATTGGCCTCACTGA	0.597000													8	77					2.32078e-09	2.41338e-09	1	1	0
NPAS3	64067	broad.mit.edu	37	14	33836390	33836390	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr14:33836390A>T	ENST00000548645.1	+	3	340		c.e3-1		NPAS3_ENST00000346562.2_Intron|NPAS3_ENST00000551008.1_Splice_Site|NPAS3_ENST00000356141.4_Splice_Site|NPAS3_ENST00000341321.4_Splice_Site|NPAS3_ENST00000551492.1_Intron|NPAS3_ENST00000547068.1_Intron|NPAS3_ENST00000357798.5_Splice_Site			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TTTTCTTTTAAGTTATAGGTG	0.368000													3	29					0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58520149	58520149	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:58520149G>A	ENST00000302819.5	-	3	552	c.261C>T	c.(259-261)atC>atT	p.I87I	ACOX2_ENST00000459701.2_Silent_p.I87I	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	87					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CTATCAACCGGATGTGGAATG	0.517000													14	186					0	0	1	0	0
CPNE5	57699	broad.mit.edu	37	6	36790836	36790836	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:36790836G>A	ENST00000244751.2	-	2	758	c.134C>T	c.(133-135)cCa>cTa	p.P45L		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	45	C2 1.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGACTTACGTGGGTCGGACTT	0.527000													7	334					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10356638	10356638	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:10356638A>T	ENST00000377086.1	+	20	1979		c.e20-1		KIF1B_ENST00000377083.1_Splice_Site|KIF1B_ENST00000377093.4_Splice_Site|KIF1B_ENST00000263934.6_Splice_Site|KIF1B_ENST00000377081.1_Splice_Site			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TGTTCCTCTTAGTTATCGTGA	0.433000													4	104					0	0	1	0	0
CXorf65	158830	broad.mit.edu	37	X	70323864	70323864	+	Silent	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chrX:70323864G>C	ENST00000374251.4	-	6	572	c.525C>G	c.(523-525)ctC>ctG	p.L175L	CXorf65_ENST00000485951.1_5'UTR			A6NEN9	CX065_HUMAN	chromosome X open reading frame 65	175										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						TGGTTTTATTGAGTTGGCGAC	0.408000													5	77					0	0	1	0	0
NCOA5	57727	broad.mit.edu	37	20	44693847	44693847	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr20:44693847C>A	ENST00000290231.6	-	6	814	c.650G>T	c.(649-651)gGg>gTg	p.G217V		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	p.G217V(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CACCTTCCGCCCCACAGACTC	0.493000													177	374					8.07858e-61	8.66007e-61	1	1	0
LARP4	113251	broad.mit.edu	37	12	50869645	50869645	+	Nonstop_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:50869645T>A	ENST00000398473.2	+	16	2285	c.2173T>A	c.(2173-2175)Taa>Aaa	p.*725K	LARP4_ENST00000347328.5_Nonstop_Mutation_p.*654K|LARP4_ENST00000293618.8_Nonstop_Mutation_p.*654K|LARP4_ENST00000518444.1_Nonstop_Mutation_p.*724K|LARP4_ENST00000429001.3_Nonstop_Mutation_p.*731K	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	0							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ATCACCAAAGTAAAAAACAAC	0.448000													6	51					0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54963068	54963068	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:54963068C>T	ENST00000243052.3	+	4	764	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.R69W|PDE1B_ENST00000550620.1_Missense_Mutation_p.R90W	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	110					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						CCAGCAGGCCCGGGCCAAAGG	0.647000													4	202					0	0	1	0	0
IGKV1D-42	28892	broad.mit.edu	37	2	90229349	90229349	+	RNA	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:90229349T>C	ENST00000390278.2	+	0	189																											TAATTTAGCCTGGTATCTGCA	0.493000													4	181					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7725011	7725011	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:7725011G>A	ENST00000303635.7	+	9	2611	c.2404G>A	c.(2404-2406)Gcg>Acg	p.A802T	CAMTA1_ENST00000439411.2_Missense_Mutation_p.A802T	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	802					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGACAGCACGGCGCTCTCACA	0.652000			T	WWTR1	epitheliod hemangioendothelioma								4	167					0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25044423	25044423	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:25044423G>A	ENST00000260600.5	-	19	3941	c.3090C>T	c.(3088-3090)atC>atT	p.I1030I	CENPO_ENST00000380834.2_3'UTR|CENPO_ENST00000473706.1_3'UTR|ADCY3_ENST00000405392.1_Silent_p.I617I	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1030					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					ACTGGTTGTTGATGTTGGTGA	0.627000													4	207					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151078337	151078337	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:151078337C>T	ENST00000474524.1	+	19	2834	c.2796C>T	c.(2794-2796)ctC>ctT	p.L932L	MED12L_ENST00000273432.4_Silent_p.L792L|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	932					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAGCCTACCTCTATGATCTCT	0.423000													39	465					0	0	1	0	0
ALG10B	144245	broad.mit.edu	37	12	38714410	38714410	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:38714410G>A	ENST00000308742.4	+	3	1133	c.817G>A	c.(817-819)Gga>Aga	p.G273R	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	273					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AGTTAATGGTGGAATTGTTAT	0.353000													8	246					0	0	1	0	0
HIST1H2AK	8330	broad.mit.edu	37	6	27805883	27805883	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:27805883T>G	ENST00000330180.2	-	1	234	c.235A>C	c.(235-237)Atc>Ctc	p.I79L		NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	79					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	p.I79L(1)		breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						CGCGGGATGATGCGGGTCTTC	0.627000													72	54					0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19191802	19191802	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:19191802G>T	ENST00000562034.1	+	2	3887	c.89G>T	c.(88-90)gGa>gTa	p.G30V	SYT17_ENST00000568115.1_Missense_Mutation_p.G30V|SYT17_ENST00000355377.2_Missense_Mutation_p.G91V|SYT17_ENST00000562711.2_Missense_Mutation_p.G87V			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	91	Cys-rich.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						TCCCCGGATGGAAGACGCTCG	0.582000											OREG0023658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	101					0.000157383	0.000161647	1	1	0
RNF220	55182	broad.mit.edu	37	1	44877987	44877987	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:44877987A>G	ENST00000355387.2	+	2	668	c.218A>G	c.(217-219)tAc>tGc	p.Y73C	RNF220_ENST00000372247.2_Missense_Mutation_p.Y73C|RNF220_ENST00000361799.2_Missense_Mutation_p.Y73C			Q5VTB9	RN220_HUMAN	ring finger protein 220	73					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						GCCTCTATGTACCATCGGCAA	0.512000													10	1988					0	0	1	0	0
GGA1	26088	broad.mit.edu	37	22	38010280	38010280	+	Splice_Site	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr22:38010280G>A	ENST00000343632.4	+	2	513	c.128_splice	c.e2+1	p.G43_splice	GGA1_ENST00000414350.3_Splice_Site_p.G43_splice|GGA1_ENST00000406772.1_5'UTR|GGA1_ENST00000337437.4_Splice_Site_p.G43_splice|GGA1_ENST00000325180.8_Splice_Site_p.G43_splice|GGA1_ENST00000405147.3_Splice_Site_p.G43_splice|GGA1_ENST00000381756.5_Splice_Site_p.G43_splice	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	43	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	p.G43R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GGACTTTGAGGGGTAGGTGGC	0.592000													10	24					0	0	1	0	0
KLHL7	55975	broad.mit.edu	37	7	23180390	23180390	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:23180390A>T	ENST00000322231.7	+	6	869	c.379A>T	c.(379-381)Ata>Tta	p.I127L	KLHL7_ENST00000339077.4_Missense_Mutation_p.I149L|KLHL7_ENST00000542558.1_5'UTR|KLHL7_ENST00000539124.1_Missense_Mutation_p.I73L|KLHL7_ENST00000409689.1_Missense_Mutation_p.I101L|KLHL7_ENST00000479288.1_3'UTR|KLHL7_ENST00000545443.1_Missense_Mutation_p.I127L			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	149						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTGTTTAGGTATAAGTGTGCT	0.318000													4	85					0	0	1	0	0
KCNJ10	3766	broad.mit.edu	37	1	160011814	160011814	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:160011814G>A	ENST00000368089.3	-	2	735	c.509C>T	c.(508-510)gCc>gTc	p.A170V	KCNJ10_ENST00000509700.1_5'UTR	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	170						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTGGGCCGGGCAATCTTCGC	0.547000													6	854					0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20691896	20691896	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr14:20691896A>T	ENST00000315519.2	+	1	106	c.28A>T	c.(28-30)Act>Tct	p.T10S		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TTCTTTGGTTACTTCTGTTTT	0.378000													5	84					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16265314	16265314	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:16265314C>T	ENST00000375759.3	+	14	11010	c.10806C>T	c.(10804-10806)taC>taT	p.Y3602Y		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3602	SPOC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCATCACTTACCTGCAGGCCA	0.572000													18	157					0	0	1	0	0
MRGPRD	116512	broad.mit.edu	37	11	68747926	68747926	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:68747926C>G	ENST00000309106.3	-	1	529	c.530G>C	c.(529-531)aGg>aCg	p.R177T		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	177						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R177M(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CATGTCCACCCTGAAGCACCG	0.562000													5	65					0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32197563	32197563	+	Missense_Mutation	SNP	C	C	T	rs150296370		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr10:32197563C>T	ENST00000375250.5	-	3	462	c.221G>A	c.(220-222)cGc>cAc	p.R74H	ARHGAP12_ENST00000396144.4_Missense_Mutation_p.R74H|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.R74H|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.R74H|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.R74H	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	74	SH3.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GAGAGCTTTGCGCGTGACCTC	0.453000													3	116					0	0	1	0	0
LHX4	89884	broad.mit.edu	37	1	180243581	180243581	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:180243581G>A	ENST00000263726.2	+	6	1284	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E	RP5-1180C10.2_ENST00000415414.1_RNA|RP5-1180C10.2_ENST00000440959.2_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	347						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GCAGGGCAGGGAGTAAGCCAG	0.572000													70	1027					0	0	1	0	0
H1F0	3005	broad.mit.edu	37	22	38201974	38201974	+	Silent	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr22:38201974C>A	ENST00000340857.2	+	1	861	c.423C>A	c.(421-423)acC>acA	p.T141T		NM_005318.3	NP_005309.1	P07305	H10_HUMAN	H1 histone family, member 0	141					DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly	actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome	DNA binding	p.T141T(1)		cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7	Melanoma(58;0.045)					CCAAAGCCACCCCGGTCAAGA	0.532000													17	27					0.575678	0.578452	1	1	0
DENND2C	163259	broad.mit.edu	37	1	115137133	115137133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:115137133G>A	ENST00000393274.1	-	18	3017	c.2392C>T	c.(2392-2394)Cga>Tga	p.R798*	DENND2C_ENST00000393276.3_Nonsense_Mutation_p.R741*|DENND2C_ENST00000393277.1_Nonsense_Mutation_p.R686*|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	798								p.R741*(1)		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)		ATTTCATTTCGTTCTTCCAAA	0.358000													25	119					0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114824336	114824336	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:114824336G>A	ENST00000315366.7	-	2	1760	c.894C>T	c.(892-894)tcC>tcT	p.S298S	ARSJ_ENST00000541197.1_Silent_p.S298S	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	298						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CATCTAAGCAGGAAAGCATGG	0.418000													19	131					0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9498708	9498708	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr20:9498708C>T	ENST00000246070.2	+	5	989	c.497C>T	c.(496-498)tCg>tTg	p.S166L	LAMP5_ENST00000427562.2_Missense_Mutation_p.S122L	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	166						integral to membrane											ACAGCCAACTCGCACCACCTC	0.532000													4	163					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109371542	109371542	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:109371542T>A	ENST00000283195.6	+	16	2508		c.e16+2			NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGTTACAAGGTAAACAGGAAA	0.299000													5	181					0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65686806	65686806	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:65686806T>G	ENST00000352385.2	-	9	1866	c.1657A>C	c.(1657-1659)Agc>Cgc	p.S553R		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	553	Fibronectin type-III 2.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TTGCTCAGGCTGGGGGGCAGG	0.597000													5	130					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25492361	25492361	+	RNA	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:25492361C>T	ENST00000453082.2	+	0	2822					NR_003343.1																						CAGTGGCCATCAGCCTGTTGC	0.607000													3	34					0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1388799	1388799	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:1388799C>T	ENST00000324803.4	+	1	3460	c.500C>T	c.(499-501)cCg>cTg	p.P167L		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	167					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	p.P167Q(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GTGGAGTGCCCGCCTGCTCAC	0.687000													7	257					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3962582	3962582	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:3962582T>A	ENST00000381638.2	-	31	5010	c.4886A>T	c.(4885-4887)tAt>tTt	p.Y1629F		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1629							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTGTCCAAAATAACTAGAAAC	0.348000													4	115					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89838183	89838183	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:89838183C>T	ENST00000389301.3	-	23	2084	c.2054G>A	c.(2053-2055)aGg>aAg	p.R685K	FANCA_ENST00000567284.2_5'UTR|FANCA_ENST00000568369.1_Missense_Mutation_p.R685K	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	685					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	p.R685K(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CAGGACAGCCCTCAGTCTTTC	0.517000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				50	147					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41798514	41798514	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr8:41798514A>T	ENST00000396930.3	-	16	3428	c.2885T>A	c.(2884-2886)tTa>tAa	p.L962*	KAT6A_ENST00000265713.2_Nonsense_Mutation_p.L962*|KAT6A_ENST00000406337.1_Nonsense_Mutation_p.L962*	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	962					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										TCCTTCTGTTAATCTGCACTT	0.592000													10	1673					0	0	1	0	0
TRAF2	7186	broad.mit.edu	37	9	139802586	139802586	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr9:139802586G>T	ENST00000359662.3	+	5	632	c.587G>T	c.(586-588)cGc>cTc	p.R196L	TRAF2_ENST00000247668.2_Missense_Mutation_p.R144L|TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000536468.1_Missense_Mutation_p.R144L			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	144					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GGCCTGGTCCGCCTTGGTGAA	0.642000													5	59					0.0215528	0.0218674	1	1	0
RHOBTB3	22836	broad.mit.edu	37	5	95087941	95087941	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:95087941A>T	ENST00000379982.3	+	5	1078		c.e5-1		GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3						retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		TTCCTGTTTTAGTTGGAGTAT	0.303000													6	57					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35871222	35871222	+	Silent	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:35871222G>T	ENST00000303115.3	+	4	573	c.444G>T	c.(442-444)gtG>gtT	p.V148V	IL7R_ENST00000506850.1_Silent_p.V148V|IL7R_ENST00000343305.4_Silent_p.V148V	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	148	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.V148V(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ACTTTGTGGTGACATTTAATA	0.388000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						27	69					6.38683e-12	6.67496e-12	1	1	0
TUBA3E	112714	broad.mit.edu	37	2	130952659	130952659	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:130952659C>T	ENST00000312988.7	-	3	468	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	123					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.R123H(1)		endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TACCAGTTTGCGGATCCGGTC	0.498000													4	474					0	0	1	0	0
PNMA1	9240	broad.mit.edu	37	14	74179820	74179820	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr14:74179820C>T	ENST00000316836.3	-	1	1308	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	175					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		tcaaaggtttcctctccaggc	0.498000													4	58					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30521685	30521685	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:30521685C>T	ENST00000356798.6	+	22	2692	c.2512C>T	c.(2512-2514)Cat>Tat	p.H838Y	ITGAL_ENST00000358164.5_Missense_Mutation_p.H754Y|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	838					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CTCCCAGCCCCATAGCCAGAT	0.562000													13	412					0	0	1	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140801364	140801364	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:140801364C>T	ENST00000398587.2	+	1	603	c.570C>T	c.(568-570)gcC>gcT	p.A190A	PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Silent_p.A190A|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGATGGGGCCAAGAATCCAG	0.552000													35	50					0	0	1	0	0
AAMP	14	broad.mit.edu	37	2	219131621	219131621	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:219131621C>T	ENST00000248450.4	-	4	653	c.483G>A	c.(481-483)tgG>tgA	p.W161*	AAMP_ENST00000444053.1_Nonsense_Mutation_p.W162*|AAMP_ENST00000420660.1_Nonsense_Mutation_p.W142*			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	161					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTCCACCTGCCACACTTTCA	0.537000													3	79					0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106156899	106156899	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:106156899G>A	ENST00000513237.1	+	3	2660	c.1863G>A	c.(1861-1863)atG>atA	p.M621I	TET2_ENST00000394764.1_Missense_Mutation_p.M600I|TET2_ENST00000305737.2_Missense_Mutation_p.M600I|TET2_ENST00000413648.2_Missense_Mutation_p.M600I|TET2_ENST00000545826.1_Missense_Mutation_p.M600I|TET2_ENST00000540549.1_Missense_Mutation_p.M600I|TET2_ENST00000380013.4_Missense_Mutation_p.M600I			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	600	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CCAATCAAATGACCTCCAAAC	0.468000			"""Mis N, F"""		MDS								4	92					0	0	1	0	0
DENND2D	79961	broad.mit.edu	37	1	111734916	111734916	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:111734916G>T	ENST00000357640.4	-	8	1047	c.818C>A	c.(817-819)gCt>gAt	p.A273D	DENND2D_ENST00000369752.5_Missense_Mutation_p.A270D	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	273	DENN.							p.A273D(1)|p.A273E(1)		breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TGCGGCAGCAGCATGGATGCA	0.627000													45	91					1.56989e-16	1.64898e-16	1	1	0
RYR2	6262	broad.mit.edu	37	1	237948244	237948244	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:237948244C>T	ENST00000366574.2	+	90	13549	c.13232C>T	c.(13231-13233)cCc>cTc	p.P4411L	RYR2_ENST00000360064.6_Missense_Mutation_p.P4417L|RYR2_ENST00000542537.1_Missense_Mutation_p.P4395L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4411					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AACCCAGTCCCCATGCCTGAG	0.448000													6	46					0	0	1	0	0
DENND2D	79961	broad.mit.edu	37	1	111734915	111734915	+	Silent	SNP	A	A	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:111734915A>C	ENST00000357640.4	-	8	1048	c.819T>G	c.(817-819)gcT>gcG	p.A273A	DENND2D_ENST00000369752.5_Silent_p.A270A	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	273	DENN.							p.A273E(1)|p.A273A(1)		breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		GTGCGGCAGCAGCATGGATGC	0.632000													44	94					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17252757	17252757	+	Missense_Mutation	SNP	G	G	C	rs147074504	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:17252757G>C	ENST00000261381.6	-	6	1383	c.1299C>G	c.(1297-1299)gaC>gaG	p.D433E		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	433					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCACCAACTGGTCATTTGTCC	0.498000													5	239					0	0	1	0	0
TBX3	6926	broad.mit.edu	37	12	115120913	115120913	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:115120913G>A	ENST00000349155.2	-	1	1056	c.93C>T	c.(91-93)agC>agT	p.S31S	TBX3_ENST00000257566.3_Silent_p.S31S	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	31					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CCAGCACCGCGCTCATGGCGA	0.682000											OREG0022153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	76					0	0	1	0	0
OSBPL2	9885	broad.mit.edu	37	20	60861652	60861652	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr20:60861652G>A	ENST00000313733.3	+	11	1212	c.1010G>A	c.(1009-1011)gGg>gAg	p.G337E	OSBPL2_ENST00000358053.2_Missense_Mutation_p.G325E|OSBPL2_ENST00000439951.2_Missense_Mutation_p.G245E	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	337					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)			GAAGACTCCGGGAAGGCTGAC	0.632000													32	107					0	0	1	0	0
VPS26A	9559	broad.mit.edu	37	10	70917845	70917845	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr10:70917845G>A	ENST00000373382.1	+	6	1082	c.429G>A	c.(427-429)ttG>ttA	p.L143L	VPS26A_ENST00000490696.1_Intron|VPS26A_ENST00000489794.1_Silent_p.L118L|VPS26A_ENST00000546041.1_Silent_p.L126L|VPS26A_ENST00000541711.1_Silent_p.L32L|VPS26A_ENST00000263559.6_Silent_p.L143L|VPS26A_ENST00000395098.1_Silent_p.L143L			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	143					retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						TGACAGATTTGGTAAAAGAGT	0.338000													4	37					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70605038	70605038	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:70605038C>T	ENST00000302516.5	+	25	3660	c.3449C>T	c.(3448-3450)tCt>tTt	p.S1150F		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1150					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CACCTGCGGTCTGAACATCCC	0.498000													14	353					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95182724	95182724	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr8:95182724G>A	ENST00000027335.3	-	9	1091	c.967C>T	c.(967-969)Ccg>Tcg	p.P323S	CDH17_ENST00000450165.2_Missense_Mutation_p.P323S|CDH17_ENST00000441892.2_Intron	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	323	Cadherin 3.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			ATTTCCAGCGGATATGAAAGT	0.418000													4	302					0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170079	90170079	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:90170079G>A	ENST00000333209.3	-	2	1701	c.1183C>T	c.(1183-1185)Cag>Tag	p.Q395*		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	395										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GCAGCTGCCTGAATGTGCACC	0.557000													9	121					0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119686074	119686074	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:119686074T>A	ENST00000379735.5	-	10	1455		c.e10-2		SEC24D_ENST00000419654.2_Splice_Site|SEC24D_ENST00000280551.6_Splice_Site|SEC24D_ENST00000511481.1_Splice_Site|SEC24D_ENST00000505134.1_Splice_Site	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D						COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						ATGGTGGAACTAATAAAAACA	0.323000													5	98					0	0	1	0	0
SMYD3	64754	broad.mit.edu	37	1	246498749	246498749	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:246498749C>T	ENST00000490107.1	-	3	295	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	SMYD3_ENST00000541742.1_Missense_Mutation_p.E27K|SMYD3_ENST00000388985.4_Missense_Mutation_p.E86K|SMYD3_ENST00000403792.3_Missense_Mutation_p.E86K	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	86						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		CATTTGCATTCCCGCTTGTGG	0.393000													16	155					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47884655	47884655	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:47884655G>A	ENST00000289672.2	-	33	5225	c.5175C>T	c.(5173-5175)ttC>ttT	p.F1725F		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1725	GPS.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTAGGAGAGCGAATGCCGCGA	0.458000													4	89					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121659283	121659283	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:121659283C>A	ENST00000489711.1	+	21	2349	c.1961C>A	c.(1960-1962)gCa>gAa	p.A654E	SLC15A2_ENST00000295605.2_Missense_Mutation_p.A623E	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	654					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TTGACAATTGCAGTTGGGAAT	0.478000													19	371					1.55795e-14	1.63232e-14	1	1	0
DAP3	7818	broad.mit.edu	37	1	155695235	155695235	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:155695235C>T	ENST00000368336.5	+	5	457	c.333C>T	c.(331-333)taC>taT	p.Y111Y	DAP3_ENST00000421487.2_Silent_p.Y77Y|DAP3_ENST00000471214.1_3'UTR|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000343043.3_Silent_p.Y111Y|DAP3_ENST00000535183.1_Silent_p.Y70Y|MSTO1_ENST00000452804.2_Intron	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	111					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TTCTGCATTACCTGAAAAACA	0.453000													76	366					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34130561	34130561	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:34130561C>T	ENST00000389232.4	+	89	12450	c.12380C>T	c.(12379-12381)gCg>gTg	p.A4127V	RYR3_ENST00000415757.3_Missense_Mutation_p.A4122V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4127					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTAGAAATTGCGGGTGAAGAG	0.483000													4	262					0	0	1	0	0
KLHL7	55975	broad.mit.edu	37	7	23180386	23180386	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:23180386A>T	ENST00000322231.7	+	6	866		c.e6-1		KLHL7_ENST00000339077.4_Splice_Site|KLHL7_ENST00000542558.1_Splice_Site|KLHL7_ENST00000539124.1_Splice_Site|KLHL7_ENST00000409689.1_Splice_Site|KLHL7_ENST00000479288.1_Splice_Site|KLHL7_ENST00000545443.1_Splice_Site			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7							Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCTGTGTTTAGGTATAAGTG	0.318000													5	81					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023145	76023145	+	Silent	SNP	C	C	T	rs148968530		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:76023145C>T	ENST00000393004.2	-	5	2624	c.2403G>A	c.(2401-2403)acG>acA	p.T801T	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Silent_p.T801T|FILIP1_ENST00000370020.1_Silent_p.T702T			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	801										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTCCAGTTGACGTCACAGGAA	0.473000													5	302					0	0	1	0	0
ZNF124	7678	broad.mit.edu	37	1	247319939	247319939	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:247319939G>A	ENST00000340684.6	-	4	937	c.799C>T	c.(799-801)Cgt>Tgt	p.R267C	ZNF124_ENST00000543802.2_Missense_Mutation_p.R329C|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491356.1_Intron	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	zinc finger protein 124	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GTACTAGCACGACTAAAGGCT	0.383000													4	104					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152323977	152323977	+	Silent	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:152323977T>G	ENST00000388718.5	-	3	6357	c.6285A>C	c.(6283-6285)tcA>tcC	p.S2095S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2095							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)			CAGCTGTCCTTGACCCTCTCT	0.522000													23	1907					0	0	1	0	0
PNMA2	10687	broad.mit.edu	37	8	26366047	26366047	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr8:26366047G>A	ENST00000522362.2	-	3	1119	c.225C>T	c.(223-225)gtC>gtT	p.V75V		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	75					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		gaatggccgagacatcagtat	0.478000													8	134					0	0	1	0	0
PPWD1	23398	broad.mit.edu	37	5	64859225	64859225	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:64859225A>T	ENST00000261308.5	+	1	160	c.88A>T	c.(88-90)Aga>Tga	p.R30*	PPWD1_ENST00000538977.1_5'UTR|PPWD1_ENST00000535264.1_5'UTR	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	30					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	p.R30*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		ACTCAGCGAAAGAGAGCTGGC	0.567000													70	98					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123842630	123842630	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr10:123842630C>T	ENST00000369005.1	+	4	955	c.615C>T	c.(613-615)ctC>ctT	p.L205L	TACC2_ENST00000453444.2_Silent_p.L205L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Silent_p.L205L|TACC2_ENST00000515603.1_Silent_p.L205L|TACC2_ENST00000515273.1_Silent_p.L205L|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	205						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGTACCCCTCAGAGAGCCAA	0.577000													5	33					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36754845	36754845	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:36754845C>T	ENST00000354618.5	+	5	1449	c.1225C>T	c.(1225-1227)Ccc>Tcc	p.P409S	THRAP3_ENST00000469141.2_Missense_Mutation_p.P409S	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	409					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGTCAGTCTCCCAAAAGGTA	0.448000			T	USP6	aneurysmal bone cysts								6	221					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90125915	90125915	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:90125915A>T	ENST00000268138.7	+	2	759		c.e2-1		TICRR_ENST00000560985.1_Splice_Site|RP11-429B14.1_ENST00000559041.1_RNA					TOPBP1-interacting checkpoint and replication regulator																		GTTTTATTTTAGTTGTGGGAA	0.398000													5	115					0	0	1	0	0
RCAN1	1827	broad.mit.edu	37	21	35893901	35893901	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr21:35893901A>T	ENST00000481448.1	-	4	938	c.452T>A	c.(451-453)cTg>cAg	p.L151Q	RCAN1_ENST00000443408.2_Missense_Mutation_p.L26Q|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000399272.1_Missense_Mutation_p.L80Q|RCAN1_ENST00000313806.4_Missense_Mutation_p.L161Q|RCAN1_ENST00000487990.1_Missense_Mutation_p.L26Q|RCAN1_ENST00000381132.2_Missense_Mutation_p.L106Q|RCAN1_ENST00000482533.1_Missense_Mutation_p.L26Q|RCAN1_ENST00000381135.3_Missense_Mutation_p.L151Q			P53805	RCAN1_HUMAN	regulator of calcineurin 1	161					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.L106Q(1)|p.L161Q(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						AGGGGAGATCAGAAACTGCTT	0.512000													6	23					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16284071	16284071	+	Missense_Mutation	SNP	C	C	T	rs140045277		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:16284071C>T	ENST00000205557.7	-	12	1614	c.1585G>A	c.(1585-1587)Ggc>Agc	p.G529S	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	529	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.G529S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		AAGAGGAGGCCGGAGGTCCGC	0.592000													43	45					0	0	1	0	0
PREP	5550	broad.mit.edu	37	6	105800954	105800954	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	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													7	79					0	0	1	0	0
DNAJC1	64215	broad.mit.edu	37	10	22048498	22048498	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr10:22048498G>A	ENST00000376980.3	-	11	1487	c.1197C>T	c.(1195-1197)ccC>ccT	p.P399P	DNAJC1_ENST00000483085.1_5'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	399					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				CCGTTTTGATGGGCCTGGAAT	0.567000													7	123					0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74442420	74442420	+	Silent	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:74442420A>T	ENST00000307439.5	-	9	1044	c.750T>A	c.(748-750)atT>atA	p.I250I	RASSF6_ENST00000395777.2_Silent_p.I216I|RASSF6_ENST00000335049.5_Silent_p.I238I|RASSF6_ENST00000342081.3_Silent_p.I282I	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	282	Ras-associating.				apoptosis|signal transduction		protein binding	p.I250I(1)|p.I282I(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GCAGTAGCGGAATGTCTGTCT	0.403000													201	260					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130897742	130897742	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:130897742T>A	ENST00000509018.1	-	5	487		c.e5-2		RAPGEF6_ENST00000308008.6_Splice_Site|FNIP1_ENST00000514667.1_Splice_Site|RAPGEF6_ENST00000296859.6_Splice_Site|RAPGEF6_ENST00000307984.5_Splice_Site|RAPGEF6_ENST00000507093.1_Splice_Site|RAPGEF6_ENST00000510071.1_Splice_Site|RAPGEF6_ENST00000503398.2_Intron	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6						Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TTACCAAAACTATAAAAACAG	0.284000													4	62					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51084867	51084867	+	Silent	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:51084867T>C	ENST00000301180.5	+	13	1621	c.1587T>C	c.(1585-1587)gtT>gtC	p.V529V		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	529						nucleus	catalytic activity|transcription factor binding	p.V529V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TAATGGGAGTTACAGTATCCC	0.408000													127	133					0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109928871	109928871	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:109928871G>A	ENST00000342494.3	+	9	1247	c.652G>A	c.(652-654)Gca>Aca	p.A218T	UBE3B_ENST00000540230.1_3'UTR|UBE3B_ENST00000537063.1_3'UTR|UBE3B_ENST00000280774.5_Missense_Mutation_p.A218T|UBE3B_ENST00000434735.2_Missense_Mutation_p.A218T	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	218					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CCGTGGCCTGGCAAGACCCCG	0.388000													4	126					0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45905190	45905190	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr20:45905190G>A	ENST00000311275.7	-	11	1541	c.1288C>T	c.(1288-1290)Ccg>Tcg	p.P430S	ZMYND8_ENST00000352431.2_Missense_Mutation_p.P450S|ZMYND8_ENST00000360911.3_Missense_Mutation_p.P425S|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P430S|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P450S|ZMYND8_ENST00000446994.2_Missense_Mutation_p.P367S|ZMYND8_ENST00000458360.2_Missense_Mutation_p.P425S|ZMYND8_ENST00000372023.3_Missense_Mutation_p.P425S|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P457S|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P450S|ZMYND8_ENST00000540497.1_Missense_Mutation_p.P425S|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P430S|ZMYND8_ENST00000396281.4_Missense_Mutation_p.P430S			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	430							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GGGGAGCGCGGCATATCCGAC	0.597000													4	282					0	0	1	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158562	26158562	+	Silent	SNP	C	C	T	rs141600148	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:26158562C>T	ENST00000289316.2	+	1	189	c.165C>T	c.(163-165)atC>atT	p.I55I	HIST1H2BD_ENST00000377777.4_Silent_p.I55I	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	55					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						ACACCGGCATCTCTTCCAAGG	0.562000													36	675					0	0	1	0	0
CXADR	1525	broad.mit.edu	37	21	18937925	18937925	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr21:18937925C>T	ENST00000284878.7	+	7	1761	c.1013C>T	c.(1012-1014)gCt>gTt	p.A338V	CXADR_ENST00000400166.1_Silent_p.L251L|CXADR_ENST00000400169.1_Missense_Mutation_p.A338V|CXADR_ENST00000306618.10_Missense_Mutation_p.A297V|CXADR_ENST00000400165.1_Silent_p.L199L	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	338					blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		CTCCCACCTGCTAAGGTAGCT	0.473000													7	291					0	0	1	0	0
KBTBD7	84078	broad.mit.edu	37	13	41767064	41767064	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr13:41767064C>T	ENST00000379483.3	-	1	1638	c.1330G>A	c.(1330-1332)Gac>Aac	p.D444N		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	444							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GTAATAGGGTCTCGTCCCCCC	0.483000													62	85					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152557951	152557951	+	Splice_Site	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:152557951C>T	ENST00000367255.5	-	109	20801		c.e109+1		SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTAACACCAACCTGGTAGAGT	0.438000										HNSCC(10;0.0054)			27	55					0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37453538	37453538	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr13:37453538G>A	ENST00000379826.4	-	2	631	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	SMAD9_ENST00000399275.2_Missense_Mutation_p.R97C|SMAD9_ENST00000350148.5_Missense_Mutation_p.R97C	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	97	MH1.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	p.R97C(2)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TCCGGCCAGCGCCACACGCGA	0.612000													22	26					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25453255	25453255	+	RNA	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:25453255T>G	ENST00000424208.1	+	0	2384				SNHG14_ENST00000450809.1_RNA|SNORD115-21_ENST00000362963.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						ACCTTATATTTTCTGAAGAGA	0.527000													3	153					0	0	1	0	0
S100A14	57402	broad.mit.edu	37	1	153587436	153587436	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:153587436C>A	ENST00000368702.1	-	5	512	c.240G>T	c.(238-240)gaG>gaT	p.E80D	S100A14_ENST00000476873.1_Missense_Mutation_p.E80D|S100A14_ENST00000368701.1_Missense_Mutation_p.E80D|S100A14_ENST00000344616.2_Missense_Mutation_p.E80D|S100A14_ENST00000368700.3_5'UTR			Q9HCY8	S10AE_HUMAN	S100 calcium binding protein A14	80					calcium ion homeostasis|defense response to bacterium|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|toll-like receptor 4 signaling pathway	cell junction|microtubule cytoskeleton|perinuclear region of cytoplasm	calcium ion binding|chemokine receptor binding	p.E80D(1)		kidney(2)|large_intestine(1)|lung(1)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACTCCTGAACTCCAGTTTAG	0.557000													10	18					6.40141e-05	6.59108e-05	1	1	0
TET2	54790	broad.mit.edu	37	4	106156759	106156759	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:106156759C>T	ENST00000513237.1	+	3	2520	c.1723C>T	c.(1723-1725)Ccc>Tcc	p.P575S	TET2_ENST00000394764.1_Missense_Mutation_p.P554S|TET2_ENST00000305737.2_Missense_Mutation_p.P554S|TET2_ENST00000413648.2_Missense_Mutation_p.P554S|TET2_ENST00000545826.1_Missense_Mutation_p.P554S|TET2_ENST00000540549.1_Missense_Mutation_p.P554S|TET2_ENST00000380013.4_Missense_Mutation_p.P554S			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	554					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGATCTTGTGCCCCCAACACA	0.488000			"""Mis N, F"""		MDS								4	234					0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24651164	24651164	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr14:24651164T>G	ENST00000354464.6	-	26	2980	c.2804A>C	c.(2803-2805)cAg>cCg	p.Q935P	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	935					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	p.Q935P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		AGGATACTCCTGGGCAGGGTG	0.652000													26	12					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122448	12122448	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:12122448C>T	ENST00000379388.2	+	4	2752	c.2420C>T	c.(2419-2421)tCt>tTt	p.S807F		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	807					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGTTCAAGCTCTGATATACCG	0.388000													14	222					0	0	1	0	0
SMYD3	64754	broad.mit.edu	37	1	246498745	246498745	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:246498745C>T	ENST00000490107.1	-	3	299	c.83G>A	c.(82-84)tGc>tAc	p.C28Y	SMYD3_ENST00000541742.1_Missense_Mutation_p.C28Y|SMYD3_ENST00000388985.4_Missense_Mutation_p.C87Y|SMYD3_ENST00000403792.3_Missense_Mutation_p.C87Y	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	87						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		AAGGCATTTGCATTCCCGCTT	0.388000													16	161					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144098145	144098145	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:144098145G>C	ENST00000467773.1	-	4	837	c.838C>G	c.(838-840)Cgc>Ggc	p.R280G	NOBOX_ENST00000483238.1_Missense_Mutation_p.R280G|NOBOX_ENST00000223140.5_Missense_Mutation_p.R195G	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	280					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	p.R280G(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TTACCTGAGCGGTATAGGGTT	0.542000													12	24					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66398378	66398378	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:66398378C>T	ENST00000404260.3	+	9	1402	c.1094C>T	c.(1093-1095)cCc>cTc	p.P365L	MAST4_ENST00000261569.7_Missense_Mutation_p.P168L|MAST4_ENST00000403625.2_Missense_Mutation_p.P362L|MAST4_ENST00000405643.1_Missense_Mutation_p.P183L|MAST4_ENST00000403666.1_Missense_Mutation_p.P173L|MAST4_ENST00000490016.2_Missense_Mutation_p.P173L			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	365						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GGACGTTCTCCCGCCTGCTGT	0.378000													5	211					0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10786630	10786630	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:10786630A>C	ENST00000075503.3	-	4	666	c.146T>G	c.(145-147)aTc>aGc	p.I49S		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	49						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						TTGTTCTCTGATAAAAAGCCA	0.453000										HNSCC(73;0.22)			10	1334					0	0	1	0	0
HINFP	25988	broad.mit.edu	37	11	119001499	119001499	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:119001499C>T	ENST00000350777.2	+	3	309	c.246C>T	c.(244-246)ctC>ctT	p.L82L	HINFP_ENST00000527354.1_3'UTR|HINFP_ENST00000527410.1_Silent_p.L82L	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	82					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CTGCTGACCTCATCCGCCATG	0.527000													10	247					0	0	1	0	0
MPPED1	758	broad.mit.edu	37	22	43870629	43870629	+	Silent	SNP	C	C	T	rs139800936	by1000genomes	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr22:43870629C>T	ENST00000417669.1	+	4	864	c.420C>T	c.(418-420)taC>taT	p.Y140Y	MPPED1_ENST00000439548.1_5'UTR|MPPED1_ENST00000542779.1_Silent_p.Y140Y|MPPED1_ENST00000414469.2_Silent_p.Y34Y|MPPED1_ENST00000538182.1_Silent_p.Y173Y|MPPED1_ENST00000443721.1_Silent_p.Y140Y			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	140							hydrolase activity	p.Y140*(1)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GCCTGCCCTACGAGTACAAGA	0.582000													5	248					0	0	1	0	0
RGS2	5997	broad.mit.edu	37	1	192779366	192779366	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:192779366G>A	ENST00000235382.5	+	2	212	c.181G>A	c.(181-183)Ggc>Agc	p.G61S	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2, 24kDa	61	Necessary for membrane association.				cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity			large_intestine(3)|lung(1)|urinary_tract(1)	5						GCCCAAAACCGGCAAAAAAAG	0.363000													3	94					0	0	1	0	0
NPL	80896	broad.mit.edu	37	1	182794914	182794914	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:182794914A>T	ENST00000367554.3	+	10	999		c.e10-1		NPL_ENST00000258317.2_Splice_Site|NPL_ENST00000367553.1_Splice_Site|NPL_ENST00000367555.1_Splice_Site|NPL_ENST00000367552.2_Splice_Site|NPL_ENST00000463899.1_Splice_Site	NM_001200050.1	NP_001186979.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)						carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						GTTCTTTTCTAGTTTTGTATC	0.338000													10	213					0	0	1	0	0
SLC11A1	6556	broad.mit.edu	37	2	219252544	219252544	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:219252544C>T	ENST00000233202.6	+	8	1001	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	SLC11A1_ENST00000539932.1_Nonsense_Mutation_p.Q103*	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	221					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGTCCTGAGCAGGGAGCGCT	0.682000													4	16					0	0	1	0	0
KRT13	3860	broad.mit.edu	37	17	39661407	39661407	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:39661407C>T	ENST00000246635.3	-	1	442	c.396G>A	c.(394-396)ctG>ctA	p.L132L	KRT13_ENST00000336861.3_Silent_p.L132L|KRT13_ENST00000587544.1_Silent_p.L132L	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	132	Coil 1A.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TCTTCACCTCCAGGTCAGCGT	0.597000													6	208					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19226822	19226822	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr22:19226822C>T	ENST00000263200.10	-	5	843	c.771G>A	c.(769-771)caG>caA	p.Q257Q	CLTCL1_ENST00000353891.5_Silent_p.Q257Q|CLTCL1_ENST00000427926.1_Silent_p.Q257Q	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	257	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GAAAATCATTCTGTGCCTCTG	0.453000			T	?	ALCL								11	451					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152323970	152323970	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:152323970C>T	ENST00000388718.5	-	3	6364	c.6292G>A	c.(6292-6294)Gct>Act	p.A2098T	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2098							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)			CTTCTTCCAGCTGTCCTTGAC	0.522000													37	1868					0	0	1	0	0
PLA2G15	23659	broad.mit.edu	37	16	68283347	68283347	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:68283347C>G	ENST00000219345.5	+	2	365	c.282C>G	c.(280-282)atC>atG	p.I94M	PLA2G15_ENST00000566188.1_Missense_Mutation_p.I94M|PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000413021.2_Intron	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	94				I -> T (in Ref. 4; BAD96510).	fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding	p.I94M(1)		kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						TTGACAATATCAGGTGGGGGC	0.547000													53	161					0	0	1	0	0
ST3GAL4	6484	broad.mit.edu	37	11	126283520	126283520	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:126283520C>T	ENST00000526727.1	+	9	1266	c.892C>T	c.(892-894)Cag>Tag	p.Q298*	ST3GAL4_ENST00000534457.1_Nonsense_Mutation_p.Q293*|ST3GAL4_ENST00000534083.1_Nonsense_Mutation_p.Q298*|ST3GAL4_ENST00000530591.1_Nonsense_Mutation_p.Q294*|ST3GAL4_ENST00000532243.1_Nonsense_Mutation_p.Q297*|ST3GAL4_ENST00000444328.2_Nonsense_Mutation_p.Q298*|ST3GAL4_ENST00000449406.2_Nonsense_Mutation_p.Q287*|ST3GAL4_ENST00000392669.2_Nonsense_Mutation_p.Q298*|ST3GAL4_ENST00000356132.4_Nonsense_Mutation_p.Q304*|ST3GAL4_ENST00000227495.6_Nonsense_Mutation_p.Q294*			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	298					post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		CTACTATGAGCAGATCACGCT	0.597000													4	213					0	0	1	0	0
RHBDD2	57414	broad.mit.edu	37	7	75513104	75513104	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:75513104G>C	ENST00000318622.4	+	4	881	c.252G>C	c.(250-252)agG>agC	p.R84S	RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000006777.6_Missense_Mutation_p.R225S|RHBDD2_ENST00000428119.1_Missense_Mutation_p.R84S	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	225						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						TGATGAGGAGGATATCCGTGT	0.527000													3	325					0	0	1	0	0
CAV2	858	broad.mit.edu	37	7	116140323	116140323	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:116140323G>A	ENST00000222693.4	+	2	552	c.160G>A	c.(160-162)Gag>Aag	p.E54K	CAV2_ENST00000393480.2_Missense_Mutation_p.E54K|CAV2_ENST00000343213.2_Intron|CAV2_ENST00000462876.1_3'UTR	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	P51636	CAV2_HUMAN	caveolin 2	54					caveola assembly|endoplasmic reticulum organization|mitochondrion organization|negative regulation of endothelial cell proliferation|positive regulation of dopamine receptor signaling pathway|regulation of mitosis|skeletal muscle fiber development|vesicle docking|vesicle fusion	caveola|extrinsic to internal side of plasma membrane|Golgi membrane|integral to plasma membrane|membrane fraction|nucleus|perinuclear region of cytoplasm|transport vesicle	D1 dopamine receptor binding|protein homodimerization activity			large_intestine(1)|lung(1)|skin(1)	3	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			GCTGGGCTTCGAGGATGTGAT	0.577000													7	108					0	0	1	0	0
CELA3B	23436	broad.mit.edu	37	1	22304925	22304925	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:22304925T>A	ENST00000337107.6	+	2	126	c.107T>A	c.(106-108)gTc>gAc	p.V36D		NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	36	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity	p.V36D(1)		breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GAGGATGCGGTCCCCTACAGC	0.622000													53	95					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113683165	113683165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:113683165C>T	ENST00000003302.4	-	16	1873	c.1805G>A	c.(1804-1806)tGg>tAg	p.W602*	USP28_ENST00000260188.5_Nonsense_Mutation_p.W602*|USP28_ENST00000545540.1_Nonsense_Mutation_p.W477*|USP28_ENST00000544967.1_Nonsense_Mutation_p.W310*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	602					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GATATAGGCCCAATAGTGTCC	0.443000													5	176					0	0	1	0	0
SLC25A13	10165	broad.mit.edu	37	7	95775879	95775879	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:95775879C>T	ENST00000416240.2	-	14	1634	c.1444G>A	c.(1444-1446)Ggg>Agg	p.G482R	SLC25A13_ENST00000265631.5_Missense_Mutation_p.G481R|SLC25A13_ENST00000542654.1_Missense_Mutation_p.G373R	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	481					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TTGTAGATCCCAAAAAACCCC	0.388000													6	163					0	0	1	0	0
KCTD18	130535	broad.mit.edu	37	2	201354993	201354993	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:201354993G>C	ENST00000359878.3	-	7	1621	c.1111C>G	c.(1111-1113)Cct>Gct	p.P371A	KCTD18_ENST00000409157.1_Missense_Mutation_p.P371A	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	371						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.P371A(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TGGGGTGTAGGCTTCTTGTCG	0.647000													40	170					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3992096	3992096	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:3992096G>A	ENST00000381638.2	-	13	2241	c.2117C>T	c.(2116-2118)gCa>gTa	p.A706V	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	706							calcium ion binding|zinc ion binding	p.A706V(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TTCTGCTCTTGCAGGCCGGAG	0.567000													4	114					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	19970423	19970423	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:19970423C>T	ENST00000396085.1	+	10	2803	c.2442C>T	c.(2440-2442)atC>atT	p.I814I	NAV2_ENST00000349880.4_Silent_p.I814I|NAV2_ENST00000527559.2_Silent_p.I766I|NAV2_ENST00000396087.3_Silent_p.I837I|NAV2_ENST00000540292.1_Silent_p.I768I|NAV2_ENST00000360655.4_Silent_p.I750I	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	837						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GCAGGTTCATCAACACTGAGT	0.622000													25	323					0	0	1	0	0
RASSF8	11228	broad.mit.edu	37	12	26220646	26220646	+	Splice_Site	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:26220646G>A	ENST00000405154.2	+	4	1337	c.1138_splice	c.e4+1	p.E380_splice	RASSF8_ENST00000541490.1_Splice_Site_p.E380_splice|RASSF8_ENST00000282884.9_Splice_Site_p.E380_splice|RASSF8_ENST00000381352.3_Splice_Site_p.G380_splice|RASSF8_ENST00000542865.1_Splice_Site_p.E380_splice	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	380					signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					CATTGAAAGGGGTAAGATGTT	0.408000													7	262					0	0	1	0	0
HOXC6	3223	broad.mit.edu	37	12	54422672	54422672	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:54422672T>C	ENST00000394331.3	+	2	1831	c.121T>C	c.(121-123)Tac>Cac	p.Y41H	HOXC5_ENST00000512206.1_Intron|HOXC4_ENST00000303406.4_Intron|HOXC6_ENST00000243108.4_Missense_Mutation_p.Y123H	NM_153693.3	NP_710160.1	P09630	HXC6_HUMAN	homeobox C6	123					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.Y123H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TATCCAGATTTACCCCTGGAT	0.468000													48	102					0	0	1	0	0
ZNF436-AS1	148898	broad.mit.edu	37	1	23697662	23697662	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:23697662G>T	ENST00000454117.1	+	2	327	c.247G>T	c.(247-249)Gga>Tga	p.G83*	C1orf213_ENST00000437367.2_Nonsense_Mutation_p.G83*|C1orf213_ENST00000335648.3_3'UTR|C1orf213_ENST00000518821.1_Nonsense_Mutation_p.G20*|C1orf213_ENST00000458053.1_3'UTR																kidney(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GTGGCGCCCAGGACGACTCCC	0.577000													4	4					3.59834e-05	3.71412e-05	1	1	0
MUC16	94025	broad.mit.edu	37	19	9073804	9073804	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:9073804C>T	ENST00000397910.4	-	3	13845	c.13642G>A	c.(13642-13644)Gca>Aca	p.A4548T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4550	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						AGTACATGTGCTGAACTGGCA	0.488000													5	442					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53014190	53014190	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:53014190G>A	ENST00000421239.2	+	6	800	c.556G>A	c.(556-558)Gat>Aat	p.D186N		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GTCTGTCAACGATGCTTCCTC	0.368000													11	199					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19666661	19666661	+	Silent	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr21:19666661A>G	ENST00000284885.3	-	21	2445	c.2412T>C	c.(2410-2412)taT>taC	p.Y804Y		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	804	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.Y804Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GTCGGCCGCCATAATACAGAC	0.557000													18	115					0	0	1	0	0
BSCL2	26580	broad.mit.edu	37	11	62457917	62457917	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:62457917G>A	ENST00000433053.1	-	12	1867	c.1311C>T	c.(1309-1311)gcC>gcT	p.A437A	BSCL2_ENST00000360796.5_Silent_p.A437A|BSCL2_ENST00000403550.1_Silent_p.A373A|BSCL2_ENST00000407022.3_Silent_p.A373A|BSCL2_ENST00000278893.7_3'UTR|BSCL2_ENST00000405837.1_Silent_p.A439A|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000421906.1_Silent_p.A373A			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	373					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						CTAGGACAGGGGCAGAAGCAG	0.597000													8	84					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234072505	234072505	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:234072505C>T	ENST00000359570.5	+	14	1357	c.1357C>T	c.(1357-1359)Ctc>Ttc	p.L453F	INPP5D_ENST00000538935.1_Missense_Mutation_p.L452F|INPP5D_ENST00000450745.1_Missense_Mutation_p.L217F|INPP5D_ENST00000455936.2_Missense_Mutation_p.L217F			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	465					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)		GCTGGAGATCCTCAAACACTC	0.557000													5	221					0	0	1	0	0
SETD7	80854	broad.mit.edu	37	4	140444560	140444560	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:140444560A>G	ENST00000274031.3	-	5	1228	c.592T>C	c.(592-594)Tca>Cca	p.S198P	SETD7_ENST00000506866.2_Missense_Mutation_p.S198P	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	198					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					ATGCAAGATGAAGTCGACTTA	0.363000													3	298					0	0	1	0	0
IRF9	10379	broad.mit.edu	37	14	24633309	24633309	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr14:24633309G>A	ENST00000396864.3	+	6	902	c.615G>A	c.(613-615)caG>caA	p.Q205Q	IRF9_ENST00000557894.1_Silent_p.Q103Q|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	205					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AAGGGGATCAGAGGTCCCTGG	0.557000													216	455					0	0	1	0	0
TCF12	6938	broad.mit.edu	37	15	57355950	57355950	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:57355950A>T	ENST00000267811.5	+	4	455	c.151A>T	c.(151-153)Att>Ttt	p.I51F	TCF12_ENST00000557843.1_Missense_Mutation_p.I51F|TCF12_ENST00000333725.5_Missense_Mutation_p.I51F|TCF12_ENST00000438423.2_Missense_Mutation_p.I51F|TCF12_ENST00000452095.2_Intron	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	51					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CTTTTTAGGTATTGATGAAAG	0.353000			T	TEC	extraskeletal myxoid chondrosarcoma								5	279					0	0	1	0	0
E2F7	144455	broad.mit.edu	37	12	77417920	77417920	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:77417920C>T	ENST00000322886.7	-	13	2846	c.2611G>A	c.(2611-2613)Gag>Aag	p.E871K	E2F7_ENST00000416496.2_Silent_p.*729*	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	871					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						AAAAACGTCTCACGATGTGTG	0.478000													29	108					0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7990740	7990740	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:7990740C>T	ENST00000319144.4	-	1	281	c.21G>A	c.(19-21)agG>agA	p.R7R		NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	7	PLAT.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	p.R7R(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CTGTGGCCACCCTGACTTTGT	0.602000										Multiple Myeloma(8;0.094)			48	55					0	0	1	0	0
AP2A1	160	broad.mit.edu	37	19	50303388	50303388	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:50303388C>T	ENST00000354293.5	+	11	1602	c.1436C>T	c.(1435-1437)gCc>gTc	p.A479V	AP2A1_ENST00000359032.5_Missense_Mutation_p.A479V	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	479					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	p.A479G(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		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;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CAGGGCTATGCCGCCAAGACC	0.612000													3	75					0	0	1	0	0
TMCC3	57458	broad.mit.edu	37	12	94965355	94965355	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:94965355G>A	ENST00000261226.4	-	4	1421	c.1290C>T	c.(1288-1290)tcC>tcT	p.S430S	TMCC3_ENST00000551457.1_Silent_p.S399S	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	430						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TCGCGATGGTGGACACACACA	0.493000													140	767					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165551753	165551753	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:165551753G>A	ENST00000375458.2	-	11	2370	c.2149C>T	c.(2149-2151)Cct>Tct	p.P717S	COBLL1_ENST00000342193.4_Missense_Mutation_p.P755S|COBLL1_ENST00000194871.6_Missense_Mutation_p.P822S|COBLL1_ENST00000392717.2_Missense_Mutation_p.P793S|COBLL1_ENST00000409184.3_Missense_Mutation_p.P755S	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	793										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TCATTTGAAGGTTTTGGCTTG	0.373000													4	239					0	0	1	0	0
HLA-F	3134	broad.mit.edu	37	6	29693797	29693797	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:29693797G>A	ENST00000376861.1	+	7	1397	c.1013G>A	c.(1012-1014)aGa>aAa	p.R338K	HLA-F_ENST00000434407.2_Missense_Mutation_p.R246K|HLA-F_ENST00000334668.4_Missense_Mutation_p.R338K|HLA-F_ENST00000440587.2_Intron|HLA-F_ENST00000259951.7_Missense_Mutation_p.R338K|HLA-F_ENST00000475996.1_Intron			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	338					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GATAGAAACAGAGGGAGCTAC	0.517000													12	158					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113540573	113540573	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:113540573C>T	ENST00000505019.1	-	6	750	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	C4orf21_ENST00000309071.5_Missense_Mutation_p.E209K|C4orf21_ENST00000445203.2_Missense_Mutation_p.E178K	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	209										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TAATTTTCTTCACACAGCACT	0.398000													3	32					0	0	1	0	0
HDAC1	3065	broad.mit.edu	37	1	32796451	32796451	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:32796451C>T	ENST00000373548.3	+	9	1005	c.921C>T	c.(919-921)aaC>aaT	p.N307N	HDAC1_ENST00000490081.1_3'UTR|HDAC1_ENST00000373541.2_Silent_p.N114N	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	307	Histone deacetylase.				anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity	p.N307N(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	CCATTCGTAACGTTGCCCGGT	0.567000													64	138					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113540507	113540507	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:113540507C>T	ENST00000505019.1	-	6	816	c.691G>A	c.(691-693)Gag>Aag	p.E231K	C4orf21_ENST00000309071.5_Missense_Mutation_p.E231K|C4orf21_ENST00000445203.2_Missense_Mutation_p.E200K	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	231										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTCACAGGCTCATTGGTCAGT	0.393000													6	70					0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78316739	78316739	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:78316739C>T	ENST00000409931.3	-	6	1300	c.1229G>A	c.(1228-1230)aGc>aAc	p.S410N	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.S410N			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	410						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CTCCAGCTGGCTGGTAAGGCC	0.542000													98	656					0	0	1	0	0
TXNDC15	79770	broad.mit.edu	37	5	134232036	134232036	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:134232036G>C	ENST00000358387.4	+	4	1433	c.808G>C	c.(808-810)Gga>Cga	p.G270R	TXNDC15_ENST00000546290.1_Missense_Mutation_p.G247R	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	270	Thioredoxin.				cell redox homeostasis	integral to membrane		p.G270R(1)|p.G270>?(1)		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)			ATTATTTCAAGGAGCTAAACC	0.353000													44	79					0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36047923	36047923	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:36047923C>T	ENST00000262623.3	-	12	1789	c.1761G>A	c.(1759-1761)atG>atA	p.M587I		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	587					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	ATGGAAAGTTCATGGCCTCTA	0.592000													12	276					0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17820079	17820079	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chrX:17820079G>A	ENST00000545871.1	-	3	512	c.52C>T	c.(52-54)Cct>Tct	p.P18S	RAI2_ENST00000415486.3_Missense_Mutation_p.P18S|RAI2_ENST00000360011.1_Missense_Mutation_p.P18S|RAI2_ENST00000331511.1_Missense_Mutation_p.P18S|RAI2_ENST00000451717.1_Missense_Mutation_p.P18S|RP3-389A20.4_ENST00000509491.2_Missense_Mutation_p.P18S	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	18					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GCCAAGGCAGGAGGGGAGTCA	0.532000													44	853					0	0	1	0	0
MIER1	57708	broad.mit.edu	37	1	67450321	67450321	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:67450321T>G	ENST00000357692.2	+	15	1585	c.1328T>G	c.(1327-1329)aTt>aGt	p.I443S	MIER1_ENST00000371014.1_Intron|MIER1_ENST00000401041.1_Missense_Mutation_p.I479S|MIER1_ENST00000371018.3_Missense_Mutation_p.I443S|MIER1_ENST00000401042.3_Intron|MIER1_ENST00000371016.1_Intron|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000355356.3_Missense_Mutation_p.I426S	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	450					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.I479S(1)|p.I426S(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						GGGTTACACATTAATGGACCA	0.353000													41	66					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107618592	107618592	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:107618592G>A	ENST00000393561.1	-	7	1156	c.972C>T	c.(970-972)tgC>tgT	p.C324C	LAMB1_ENST00000393560.1_Silent_p.C300C|LAMB1_ENST00000222399.6_Silent_p.C300C			P07942	LAMB1_HUMAN	laminin, beta 1	300	Laminin EGF-like 1.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTTATGCCTGCACATGCAGT	0.418000													5	519					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751901	140751901	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:140751901G>A	ENST00000576222.1	+	1	2071	c.1940G>A	c.(1939-1941)cGt>cAt	p.R647H	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCACTGTGCGTGATGGAGGA	0.647000													11	63					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234072504	234072504	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:234072504C>T	ENST00000359570.5	+	14	1356	c.1356C>T	c.(1354-1356)atC>atT	p.I452I	INPP5D_ENST00000538935.1_Silent_p.I451I|INPP5D_ENST00000450745.1_Silent_p.I216I|INPP5D_ENST00000455936.2_Silent_p.I216I			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	464					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)		GGCTGGAGATCCTCAAACACT	0.552000													5	222					0	0	1	0	0
AHCY	191	broad.mit.edu	37	20	32879280	32879280	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr20:32879280A>G	ENST00000538132.1	-	5	805	c.419T>C	c.(418-420)aTg>aCg	p.M140T	AHCY_ENST00000217426.2_Missense_Mutation_p.M168T|AHCY_ENST00000468908.1_5'UTR	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	168					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCCATTGGCCATCATCTTGTA	0.572000													5	439					0	0	1	0	0
GTF2H1	2965	broad.mit.edu	37	11	18357301	18357301	+	Splice_Site	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:18357301G>T	ENST00000265963.4	+	3	315	c.154_splice	c.e3-1	p.C52_splice	GTF2H1_ENST00000453096.2_Splice_Site_p.C52_splice|GTF2H1_ENST00000531757.1_3'UTR|GTF2H1_ENST00000534641.1_Intron	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	52					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	p.C52F(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						TTCTTTTTAGGCCAGAAAATT	0.423000								Nucleotide excision repair (NER)					47	73					8.43867e-41	9.02289e-41	1	1	0
RBM47	54502	broad.mit.edu	37	4	40428110	40428110	+	Silent	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:40428110A>G	ENST00000319592.4	-	6	2095	c.1386T>C	c.(1384-1386)atT>atC	p.I462I	RBM47_ENST00000295971.7_Silent_p.I531I|RBM47_ENST00000381795.6_Silent_p.I462I|RBM47_ENST00000381793.2_Silent_p.I531I|RBM47_ENST00000514014.1_Silent_p.I493I			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	531						nucleus	nucleotide binding|RNA binding	p.I462I(2)|p.I531I(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGGCAGTAGGAATTCTCTGAA	0.562000													31	144					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57194311	57194311	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:57194311G>A	ENST00000331162.4	-	3	424	c.154C>T	c.(154-156)Ctg>Ttg	p.L52L		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	52	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGGGAGACCAGGTTTCTGTAG	0.378000													4	262					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155753882	155753882	+	Splice_Site	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:155753882T>G	ENST00000437809.1	-	14	1911		c.e14-2		GON4L_ENST00000361040.5_Splice_Site|GON4L_ENST00000368331.1_Splice_Site|GON4L_ENST00000271883.5_Splice_Site|GON4L_ENST00000471341.1_Splice_Site			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)						regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.?(3)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATCTTGGAACTGTGGGCAAAG	0.473000													73	134					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160295535	160295535	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:160295535A>T	ENST00000392783.2	-	7	1380	c.885T>A	c.(883-885)caT>caA	p.H295Q	BAZ2B_ENST00000392782.1_Missense_Mutation_p.H293Q|BAZ2B_ENST00000355831.2_Missense_Mutation_p.H295Q|BAZ2B_ENST00000343439.5_Missense_Mutation_p.H293Q	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGTTACTTTTATGTTGTGCTT	0.323000													5	124					0	0	1	0	0
SPZ1	84654	broad.mit.edu	37	5	79616637	79616637	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:79616637C>T	ENST00000296739.4	+	1	848	c.603C>T	c.(601-603)aaC>aaT	p.N201N		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.N201N(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		ACTCTGAGAACACCGCACAAG	0.353000													31	81					0	0	1	0	0
ADRA2A	150	broad.mit.edu	37	10	112838936	112838936	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr10:112838936C>T	ENST00000280155.2	+	1	2147	c.1182C>T	c.(1180-1182)gtC>gtT	p.V394V		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	379					actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	TGGCCGTGGTCATCGGAGTGT	0.662000													4	27					0	0	1	0	0
TXNDC15	79770	broad.mit.edu	37	5	134232037	134232037	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:134232037G>A	ENST00000358387.4	+	4	1434	c.809G>A	c.(808-810)gGa>gAa	p.G270E	TXNDC15_ENST00000546290.1_Missense_Mutation_p.G247E	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	270	Thioredoxin.				cell redox homeostasis	integral to membrane		p.G270E(1)|p.G270>?(1)		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)			TTATTTCAAGGAGCTAAACCA	0.353000													44	80					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162463847	162463847	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:162463847T>A	ENST00000306100.5	-	9	1452		c.e9-2		FSTL5_ENST00000511170.1_Splice_Site|FSTL5_ENST00000379164.4_Splice_Site|FSTL5_ENST00000427802.2_Splice_Site|FSTL5_ENST00000536695.1_Splice_Site	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5							extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTGGAGGAACTAAAGGAAAAA	0.368000													4	92					0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154179286	154179286	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:154179286T>A	ENST00000336314.4	+	9	1306	c.1282T>A	c.(1282-1284)Ttt>Att	p.F428I		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	505	HTH La-type RNA-binding.						protein binding|RNA binding	p.F505I(1)|p.F428I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTGCCCTGAATTTGTTCCCCG	0.517000													129	551					0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56387792	56387792	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:56387792C>T	ENST00000423270.1	-	9	2133	c.2134G>A	c.(2134-2136)Gct>Act	p.A712T	RFX7_ENST00000422057.1_Missense_Mutation_p.A615T|RFX7_ENST00000559447.2_Missense_Mutation_p.A615T|RFX7_ENST00000317318.6_Missense_Mutation_p.A712T	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	615					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGAATCTGAGCACCTGCTGTT	0.443000													54	299					0	0	1	0	0
FIZ1	84922	broad.mit.edu	37	19	56109181	56109181	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:56109181G>A	ENST00000221665.3	-	2	140	c.51C>T	c.(49-51)gcC>gcT	p.A17A	FIZ1_ENST00000592585.1_Silent_p.A17A	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding	p.A17A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CCCTGGGGGCGGCAGCGGCGG	0.672000													6	14					0	0	1	0	0
PNMA2	10687	broad.mit.edu	37	8	26366045	26366045	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr8:26366045G>A	ENST00000522362.2	-	3	1121	c.227C>T	c.(226-228)tCg>tTg	p.S76L		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	76					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		gggaatggccgagacatcagt	0.473000													8	135					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62295365	62295365	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:62295365G>A	ENST00000378024.4	-	5	6798	c.6524C>T	c.(6523-6525)cCt>cTt	p.P2175L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2175					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTGCATCTCAGGCATCTTAAA	0.493000													4	452					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206617646	206617646	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:206617646G>A	ENST00000360409.3	+	12	2782	c.1991G>A	c.(1990-1992)tGg>tAg	p.W664*	NRP2_ENST00000357785.5_Nonsense_Mutation_p.W664*|NRP2_ENST00000272849.3_Nonsense_Mutation_p.W664*|NRP2_ENST00000357118.4_Nonsense_Mutation_p.W664*|NRP2_ENST00000540178.1_Nonsense_Mutation_p.W664*|NRP2_ENST00000540841.1_Nonsense_Mutation_p.W664*|NRP2_ENST00000412873.2_Nonsense_Mutation_p.W664*	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	664	MAM.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CATGCCAAGTGGCTCCGGACC	0.522000													7	164					0	0	1	0	0
ZNF416	55659	broad.mit.edu	37	19	58084565	58084565	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:58084565C>T	ENST00000196489.3	-	4	929	c.707G>A	c.(706-708)tGc>tAc	p.C236Y		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TTTTCCAGTGCAGACTCTAGG	0.468000													8	444					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324721	152324721	+	Silent	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:152324721A>T	ENST00000388718.5	-	3	5613	c.5541T>A	c.(5539-5541)acT>acA	p.T1847T	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1847							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)			TCTGTCCATGAGTAGTTCCAT	0.502000													8	878					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113540570	113540570	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:113540570C>T	ENST00000505019.1	-	6	753	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	C4orf21_ENST00000309071.5_Missense_Mutation_p.E210K|C4orf21_ENST00000445203.2_Missense_Mutation_p.E179K	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	210										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AAATAATTTTCTTCACACAGC	0.388000													3	31					0	0	1	0	0
HEATR3	55027	broad.mit.edu	37	16	50128614	50128614	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:50128614A>T	ENST00000299192.7	+	12	1701		c.e12-1		HEATR3_ENST00000564942.1_Splice_Site|HEATR3_ENST00000285767.4_Splice_Site	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3								binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTTGTGTTTTAGATTTTGCTA	0.333000													4	121					0	0	1	0	0
SUFU	51684	broad.mit.edu	37	10	104375093	104375093	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr10:104375093G>A	ENST00000369902.3	+	9	1257	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q	SUFU_ENST00000423559.2_Missense_Mutation_p.R364Q|SUFU_ENST00000369899.2_Missense_Mutation_p.R364Q	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	364					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		ATTCGCACGCGGCAGCTTGAG	0.567000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				4	176					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17575702	17575702	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:17575702G>A	ENST00000375460.3	+	1	110	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	24					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGCTGGCGTGGAGACCCTCGT	0.612000													28	211					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187549318	187549318	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:187549318C>T	ENST00000441802.2	-	9	5009	c.4800G>A	c.(4798-4800)tcG>tcA	p.S1600S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1600	Cadherin 14.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.S1600S(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTGACTCGATCGAGTACAGCA	0.448000										HNSCC(5;0.00058)			8	81					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11184579	11184579	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:11184579G>A	ENST00000361445.4	-	47	6714	c.6638C>T	c.(6637-6639)cCa>cTa	p.P2213L	MTOR_ENST00000376838.1_Missense_Mutation_p.P418L	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2213	PI3K/PI4K.				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						AAGAGATGTTGGGTCATTGGC	0.453000													15	89					0	0	1	0	0
NDUFS3	4722	broad.mit.edu	37	11	47602520	47602520	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:47602520G>T	ENST00000534716.2	+	4	383	c.365G>T	c.(364-366)cGg>cTg	p.R122L	NDUFS3_ENST00000263774.4_Missense_Mutation_p.R122L|NDUFS3_ENST00000533507.1_3'UTR|NDUFS3_ENST00000528192.1_Missense_Mutation_p.R122L			O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	122					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					NADH(DB00157)	GTCCCAACTCGGCAAAACCGT	0.453000													5	238					0.00198382	0.00202262	1	1	0
SLC24A3	57419	broad.mit.edu	37	20	19701739	19701739	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr20:19701739C>T	ENST00000328041.6	+	17	2087	c.1890C>T	c.(1888-1890)ttC>ttT	p.F630F		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	630						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGACTGAGTTCAACGTGTTCA	0.577000													17	947					0	0	1	0	0
NAT2	10	broad.mit.edu	37	8	18258243	18258243	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr8:18258243T>C	ENST00000286479.3	+	2	837	c.730T>C	c.(730-732)Ttc>Ctc	p.F244L	NAT2_ENST00000520116.1_Missense_Mutation_p.F114L	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	244					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	p.F244L(1)		kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		CTATAGAAAATTCAATTATAA	0.393000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				21	24					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218695115	218695115	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:218695115T>A	ENST00000171887.4	-	21	3451		c.e21-2		TNS1_ENST00000419504.1_Splice_Site|TNS1_ENST00000430930.1_Intron	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1							cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TTCTGGTAACTAAGGAAAAAA	0.557000													4	110					0	0	1	0	0
NUP35	129401	broad.mit.edu	37	2	184016285	184016285	+	Silent	SNP	A	A	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:184016285A>C	ENST00000295119.4	+	5	550	c.447A>C	c.(445-447)acA>acC	p.T149T	NUP35_ENST00000409798.1_Silent_p.T132T|NUP35_ENST00000541912.1_Silent_p.T14T	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	149					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane		p.T149T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						GAAAGACGACATTATCTCCTG	0.413000													37	99					0	0	1	0	0
IGSF6	10261	broad.mit.edu	37	16	21658470	21658470	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:21658470G>A	ENST00000268389.4	-	2	472	c.411C>T	c.(409-411)acC>acT	p.T137T	METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	137					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		CCACCAGTGTGGTCCCTCCTC	0.458000													67	340					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7651777	7651777	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:7651777G>A	ENST00000359156.4	-	4	667	c.465C>T	c.(463-465)tcC>tcT	p.S155S	CD163_ENST00000432237.2_Silent_p.S155S|CD163_ENST00000396620.3_Silent_p.S155S|CD163_ENST00000541972.1_Silent_p.S143S	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	155					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TTTCCAAATTGGATCCATCTG	0.408000													11	557					0	0	1	0	0
C2CD2L	9854	broad.mit.edu	37	11	118981555	118981555	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:118981555A>T	ENST00000336702.3	+	4	929		c.e4-1			NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like							integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						TCCTGTCTGTAGTTGGAAGTC	0.527000													8	496					0	0	1	0	0
WIF1	11197	broad.mit.edu	37	12	65462686	65462686	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:65462686T>A	ENST00000286574.4	-	4	772		c.e4-2			NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1						multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CTTGAACAACTAAAAGAAAAA	0.373000			T	HMGA2	pleomorphic salivary gland adenoma								4	97					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33237800	33237800	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:33237800C>T	ENST00000401073.2	+	6	3090	c.3020C>T	c.(3019-3021)tCa>tTa	p.S1007L	KIAA1522_ENST00000373480.1_Missense_Mutation_p.S948L|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.S959L	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	948								p.S1007L(1)		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)				CGGAGCATCTCAGAGCAGCGG	0.667000													9	14					0	0	1	0	0
GOLGA8DP	100132979	broad.mit.edu	37	15	22709637	22709637	+	RNA	SNP	T	T	G	rs140467724	by1000genomes	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:22709637T>G	ENST00000314246.8	-	0	1147																											CCCATCTGGTTTTTGAGTTTG	0.547000													3	249					0	0	1	0	0
PRELID1	27166	broad.mit.edu	37	5	176733119	176733119	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:176733119C>G	ENST00000303204.4	+	4	665	c.453C>G	c.(451-453)ttC>ttG	p.F151L	MXD3_ENST00000427908.2_3'UTR|PRELID1_ENST00000503216.1_Missense_Mutation_p.F151L			Q9Y255	PRLD1_HUMAN	PRELI domain containing 1	151	PRELI/MSF1.				immune response|multicellular organismal development	mitochondrion|nucleus		p.F151L(1)		endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	7	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)			TTGCCCGATTCAAAAGCAACG	0.498000													106	102					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228479797	228479797	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:228479797C>T	ENST00000570156.2	+	44	11899	c.11825C>T	c.(11824-11826)gCg>gTg	p.A3942V	OBSCN_ENST00000359599.6_Missense_Mutation_p.A2360V|OBSCN_ENST00000366709.4_Missense_Mutation_p.A632V|OBSCN_ENST00000284548.11_Missense_Mutation_p.A3513V|OBSCN_ENST00000422127.1_Missense_Mutation_p.A3513V|OBSCN_ENST00000366707.4_Missense_Mutation_p.A632V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2980	Ig-like 40.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGGCCATGGCGGACGCCGGG	0.622000													4	254					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34262927	34262927	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:34262927C>T	ENST00000262622.3	+	4	992	c.234C>T	c.(232-234)gaC>gaT	p.D78D	CHST8_ENST00000438847.2_Silent_p.D78D|CHST8_ENST00000434302.1_Silent_p.D78D	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	78					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	p.D78D(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TCACTCGGGACTTATCCAGTG	0.657000													6	18					0	0	1	0	0
PPP2R2A	5520	broad.mit.edu	37	8	26218611	26218611	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr8:26218611C>T	ENST00000380737.3	+	6	910	c.581C>T	c.(580-582)tCt>tTt	p.S194F	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.S204F	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha											kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		ACATATTTATCTGCAGATGAT	0.353000													4	62					0	0	1	0	0
PAXBP1	94104	broad.mit.edu	37	21	34134523	34134523	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr21:34134523C>T	ENST00000331923.4	-	4	944	c.755G>A	c.(754-756)cGc>cAc	p.R252H	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.R252H	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1																		TCTAACAAGGCGGCCTTTACC	0.423000													4	124					0	0	1	0	0
FAM111B	374393	broad.mit.edu	37	11	58893286	58893286	+	Silent	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:58893286T>G	ENST00000343597.3	+	4	1907	c.1716T>G	c.(1714-1716)ggT>ggG	p.G572G	FAM111B_ENST00000529618.1_Silent_p.G542G|FAM111B_ENST00000411426.1_Silent_p.G542G	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	572							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						CATCTACTGGTTTGATTTATT	0.353000													8	159					0	0	1	0	0
FXYD2	486	broad.mit.edu	37	11	117691582	117691582	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:117691582C>T	ENST00000528014.1	-	5	329	c.162G>A	c.(160-162)aaG>aaA	p.K54K	FXYD2_ENST00000532119.1_Silent_p.K54K|FXYD6-FXYD2_ENST00000532984.1_3'UTR|FXYD2_ENST00000260287.2_Silent_p.K54K|RP11-728F11.3_ENST00000596805.1_RNA|FXYD2_ENST00000292079.2_Silent_p.K56K|RP11-728F11.3_ENST00000531850.2_RNA					FXYD domain containing ion transport regulator 2											breast(1)|kidney(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;2.83e-05)|Epithelial(105;0.00114)		ACCTGCGCTTCTTATTGCCCC	0.532000													4	48					0	0	1	0	0
GART	2618	broad.mit.edu	37	21	34889913	34889913	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr21:34889913C>T	ENST00000381831.3	-	15	1968	c.1705G>A	c.(1705-1707)Ggt>Agt	p.G569S	GART_ENST00000543717.1_Missense_Mutation_p.G121S|GART_ENST00000381815.4_Missense_Mutation_p.G569S|GART_ENST00000381839.3_Missense_Mutation_p.G569S	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	569	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	GCTGTTTCACCTCCTGGTGGG	0.458000													4	232					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98418894	98418894	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:98418894G>A	ENST00000186436.5	-	24	2876	c.2648C>T	c.(2647-2649)tCa>tTa	p.S883L		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	883						integral to membrane		p.S770L(1)|p.S883L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TACTTACCTTGATACTAACTT	0.328000													26	50					0	0	1	0	0
KIAA1191	57179	broad.mit.edu	37	5	175782659	175782659	+	Missense_Mutation	SNP	G	G	A	rs138102670	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:175782659G>A	ENST00000298569.4	-	4	655	c.122C>T	c.(121-123)gCg>gTg	p.A41V	KIAA1191_ENST00000393725.2_Missense_Mutation_p.A22V|KIAA1191_ENST00000393728.2_Intron|KIAA1191_ENST00000533553.1_Intron|KIAA1191_ENST00000510164.1_Missense_Mutation_p.A41V|RP11-843P14.1_ENST00000512934.1_RNA	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	KIAA1191	41							protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|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;0.101)		AGTCATGGGCGCAGGGTCCTC	0.582000													5	590					0	0	1	0	0
SCGB2B2	284402	broad.mit.edu	37	19	35085113	35085113	+	Silent	SNP	G	G	T	rs139007213		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:35085113G>T	ENST00000601241.1	-	3	2313	c.213C>A	c.(211-213)tcC>tcA	p.S71S	SCGB2B2_ENST00000595326.1_Intron|SCGB2B2_ENST00000379204.2_Silent_p.S71S			Q4G0G5	SCGBL_HUMAN	secretoglobin, family 2B, member 2	71						extracellular region	binding										TTTCTGTCACGGAGACATTGG	0.542000													8	386					0.000442599	0.000452363	1	1	0
TCHHL1	126637	broad.mit.edu	37	1	152058807	152058807	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:152058807C>T	ENST00000368806.1	-	3	1415	c.1351G>A	c.(1351-1353)Gga>Aga	p.G451R		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	451							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGATCTCCTCCTTCTGAGCTT	0.443000													10	824					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176903353	176903353	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:176903353G>C	ENST00000367654.2	-	16	2643	c.2630C>G	c.(2629-2631)tCt>tGt	p.S877C	ASTN1_ENST00000367657.3_Missense_Mutation_p.S869C|ASTN1_ENST00000424564.2_Missense_Mutation_p.S869C|ASTN1_ENST00000361833.2_Missense_Mutation_p.S869C			O14525	ASTN1_HUMAN	astrotactin 1	877					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTACCAGATAGAACAGGACTC	0.512000													4	378					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72420855	72420855	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:72420855A>T	ENST00000340595.3	+	18	2758		c.e18-1		SLC4A4_ENST00000425175.1_Splice_Site|SLC4A4_ENST00000351898.6_Splice_Site|SLC4A4_ENST00000264485.5_Splice_Site	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4							basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTTTCCTTCTAGTTTATACCC	0.323000													6	267					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122758390	122758390	+	Splice_Site	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chrX:122758390A>G	ENST00000245838.8	-	26	3218		c.e26+1		THOC2_ENST00000355725.4_Splice_Site|THOC2_ENST00000491737.1_Splice_Site	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2						intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	p.?(2)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TATTAGTCATACCTTTTCATA	0.358000													81	42					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52646191	52646191	+	Silent	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:52646191T>G	ENST00000399231.3	-	26	3687	c.3444A>C	c.(3442-3444)gtA>gtC	p.V1148V	MYO5A_ENST00000358212.6_Silent_p.V1148V|MYO5A_ENST00000356338.6_Silent_p.V1148V|MYO5A_ENST00000399233.2_Silent_p.V1148V|MYO5A_ENST00000553916.1_Silent_p.V1148V	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1148					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.V1148V(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGTCCAGAGGTACCTTCTTCT	0.488000													57	110					0	0	1	0	0
CWF19L1	55280	broad.mit.edu	37	10	102006678	102006678	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr10:102006678G>A	ENST00000354105.4	-	8	809	c.723C>T	c.(721-723)ttC>ttT	p.F241F	CWF19L1_ENST00000478047.1_Intron	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	241							catalytic activity	p.F241F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		GAACAATACTGAACGCGTAAA	0.393000													28	21					0	0	1	0	0
SIPA1	6494	broad.mit.edu	37	11	65413812	65413812	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:65413812C>T	ENST00000394224.3	+	7	1680	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	SIPA1_ENST00000534313.1_Missense_Mutation_p.R462W|SIPA1_ENST00000394227.3_Missense_Mutation_p.R462W|SIPA1_ENST00000527525.1_Missense_Mutation_p.R462W	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	462	Rap-GAP.				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CCTAGTGGTGCGGGCACACAC	0.642000													3	60					0	0	1	0	0
DDX39B	7919	broad.mit.edu	37	6	31503131	31503131	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:31503131G>A	ENST00000453105.2	-	5	793	c.607C>T	c.(607-609)Cta>Tta	p.L203L	DDX39B_ENST00000417556.2_Intron|DDX39B_ENST00000458640.1_Intron|ATP6V1G2-DDX39B_ENST00000376185.1_Intron|DDX39B_ENST00000376177.2_Intron|DDX39B_ENST00000396172.1_Intron|DDX39B_ENST00000415382.2_Intron			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	0	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						agagaaggtagaagggTATTT	0.562000													9	299					0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9498720	9498720	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr20:9498720C>T	ENST00000246070.2	+	5	1001	c.509C>T	c.(508-510)tCt>tTt	p.S170F	LAMP5_ENST00000427562.2_Missense_Mutation_p.S126F	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	170						integral to membrane											CACCACCTCTCTGCCTTGGTC	0.532000													6	184					0	0	1	0	0
IZUMO2	126123	broad.mit.edu	37	19	50657881	50657881	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:50657881A>C	ENST00000293405.3	-	6	599	c.599T>G	c.(598-600)tTt>tGt	p.F200C		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	200						integral to membrane		p.F200C(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						CACGAAGACAAAGACAGCCAG	0.602000													123	195					0	0	1	0	0
MT1X	4501	broad.mit.edu	37	16	56717132	56717132	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:56717132C>T	ENST00000562939.1	+	2	155	c.84C>T	c.(82-84)tcC>tcT	p.S28S	MT1X_ENST00000394485.4_Silent_p.S28S|RP11-343H19.2_ENST00000567563.1_RNA			P80297	MT1X_HUMAN	metallothionein 1X	28	Beta.				response to metal ion		metal ion binding			kidney(2)	2						AATGCACCTCCTGCAAGAAGA	0.577000													7	122					0	0	1	0	0
TMEM116	89894	broad.mit.edu	37	12	112381091	112381091	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:112381091C>G	ENST00000354825.3	-	7	672	c.17G>C	c.(16-18)aGt>aCt	p.S6T	TMEM116_ENST00000355445.3_Intron|TMEM116_ENST00000552374.2_Missense_Mutation_p.S98T|TMEM116_ENST00000549537.2_5'UTR|TMEM116_ENST00000550831.3_Missense_Mutation_p.S6T|TMEM116_ENST00000437003.2_Missense_Mutation_p.S6T			Q8NCL8	TM116_HUMAN	transmembrane protein 116	6						integral to membrane				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						GCTCTGTCCACTCTGGGTGTG	0.423000													11	328					0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67345001	67345001	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr18:67345001C>T	ENST00000382713.5	+	4	511	c.321C>T	c.(319-321)ctC>ctT	p.L107L	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	107	PH.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GCAAGCACCTCTGCATGGAGT	0.537000													20	192					0	0	1	0	0
MUL1	79594	broad.mit.edu	37	1	20828602	20828602	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:20828602G>A	ENST00000264198.3	-	3	425	c.289C>T	c.(289-291)Cag>Tag	p.Q97*		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	97					activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		TTGTGCTCCTGAAGTGTCAGC	0.478000													4	114					0	0	1	0	0
EFR3A	23167	broad.mit.edu	37	8	132962214	132962214	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr8:132962214A>T	ENST00000254624.5	+	5	591		c.e5-1		EFR3A_ENST00000519656.1_Splice_Site|EFR3A_ENST00000334503.4_Splice_Site	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)							plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TGTGTTTTTTAGTTTGTCAAA	0.308000													5	20					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32740067	32740067	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:32740067A>T	ENST00000421745.2	+	55	10713	c.10579A>T	c.(10579-10581)Aat>Tat	p.N3527Y		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3527					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTTACTTTTTAATTGGTCCAT	0.294000													7	92					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152080608	152080608	+	Silent	SNP	T	T	C	rs71585886		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:152080608T>C	ENST00000368804.1	-	2	5084	c.5085A>G	c.(5083-5085)gaA>gaG	p.E1695E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1695	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTTCCTCTTCGCGGAATT	0.577000													4	352					0	0	1	0	0
PLOD1	5351	broad.mit.edu	37	1	12024284	12024285	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:12024284_12024285insG	ENST00000196061.4	+	12	1282_1283	c.1255_1256insG	c.(1255-1257)gggfs	p.G419fs	PLOD1_ENST00000376369.3_Frame_Shift_Ins_p.G466fs	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	419					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	p.A421fs*45(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	GTCGAACTTCTGGGGGGCTCTC	0.629													8	223	---	---	---	---					
SPEN	23013	broad.mit.edu	37	1	16259479	16259480	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													8	430	---	---	---	---					
LUZP1	7798	broad.mit.edu	37	1	23417944	23417945	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:23417944_23417945insG	ENST00000302291.4	-	4	3611_3612	c.2810_2811insC	c.(2809-2811)cacfs	p.H937fs	LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.H937fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	937						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTATTCGAGTTGGGGGGTCTTC	0.495													9	657	---	---	---	---					
LUZP1	7798	broad.mit.edu	37	1	23419318	23419319	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:23419318_23419319insG	ENST00000302291.4	-	4	2237_2238	c.1436_1437insC	c.(1435-1437)cgcfs	p.R479fs	LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.R479fs|LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.R479fs|LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.R479fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	479						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CCTGAGCAGCCGGGGGGTAGCG	0.569													7	853	---	---	---	---					
DHDDS	79947	broad.mit.edu	37	1	26774120	26774121	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:26774120_26774121insG	ENST00000360009.2	+	6	588_589	c.511_512insG	c.(511-513)gggfs	p.G171fs	DHDDS_ENST00000374185.3_Frame_Shift_Ins_p.G171fs|DHDDS_ENST00000526219.1_Frame_Shift_Ins_p.G132fs|DHDDS_ENST00000525682.2_Intron|DHDDS_ENST00000236342.7_Frame_Shift_Ins_p.G171fs|DHDDS_ENST00000427245.2_Frame_Shift_Ins_p.G171fs	NM_024887.3|NM_205861.2	NP_079163.2|NP_995583.1	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	171							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		AGAGATGGCCTGGGGGGTGGAG	0.505													8	197	---	---	---	---					
RPS6KA1	6195	broad.mit.edu	37	1	26885310	26885311	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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	196	---	---	---	---					
RPS6KA1	6195	broad.mit.edu	37	1	26900615	26900616	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:26900615_26900616insC	ENST00000374168.2	+	22	2285_2286	c.2131_2132insC	c.(2131-2133)cccfs	p.P711fs	RPS6KA1_ENST00000530003.1_Frame_Shift_Ins_p.P695fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Ins_p.P619fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Ins_p.P720fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Ins_p.P619fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Ins_p.P700fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	711					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)		CTCCAAGCCCACCCCCCAGCTG	0.629													7	151	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5539-5544)ggggggfs	p.GG1847fs	ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|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"""								23	608	---	---	---	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)cccfs	p.P344fs	PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR	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													22	739	---	---	---	---					
PUM1	9698	broad.mit.edu	37	1	31406073	31406074	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:31406073_31406074insG	ENST00000373747.3	-	22	3653_3654	c.3554_3555insC	c.(3553-3555)caafs	p.Q1185fs	PUM1_ENST00000257075.5_Frame_Shift_Ins_p.Q1182fs|PUM1_ENST00000426105.2_Frame_Shift_Ins_p.Q1184fs|PUM1_ENST00000423018.2_Frame_Shift_Ins_p.Q1040fs|PUM1_ENST00000373741.4_Frame_Shift_Ins_p.Q1220fs|PUM1_ENST00000373742.2_Frame_Shift_Ins_p.Q1123fs|PUM1_ENST00000440538.2_Frame_Shift_Ins_p.Q1158fs|PUM1_ENST00000424085.2_Frame_Shift_Ins_p.Q940fs	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													8	727	---	---	---	---					
PEF1	553115	broad.mit.edu	37	1	32101045	32101047	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:32101045_32101047delGCC	ENST00000373703.4	-	2	123_125	c.101_103delGGC	c.(100-105)gag>g	p.GQ34del	PEF1_ENST00000440872.2_In_Frame_Del_p.GQ34del|PEF1_ENST00000492061.1_5'UTR	NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	34	9 X 9 AA approximate tandem repeat of [AP]-P-G-G-P-Y-G-G-P-P.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		CTACCATACTGCCCTCCACTATT	0.626													8	97	---	---	---	---					
IQCC	55721	broad.mit.edu	37	1	32673442	32673443	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:32673442_32673443insG	ENST00000537469.1	+	5	1447_1448	c.1400_1401insG	c.(1399-1401)tggfs	p.W467fs	IQCC_ENST00000291358.6_Frame_Shift_Ins_p.W387fs	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	387										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATGGTACCTTGGGGGGGCCAG	0.550													7	187	---	---	---	---					
CSMD2	114784	broad.mit.edu	37	1	34035115	34035116	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:34035115_34035116insG	ENST00000373381.4	-	52	8165_8166	c.7989_7990insC	c.(7987-7992)ccatggfs	p.W2664fs		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2666	Sushi 17.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGGTGGCCATTGGGGGGAATCG	0.554													7	262	---	---	---	---					
MAP7D1	55700	broad.mit.edu	37	1	36636763	36636764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:36636763_36636764insC	ENST00000316156.4	+	2	691_692	c.238_239insC	c.(238-240)cccfs	p.P80fs	MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.P80fs|MAP7D1_ENST00000373151.2_Frame_Shift_Ins_p.P80fs			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	80	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)				GCCTAGGCCAGCCCCCCCGCAG	0.653													8	130	---	---	---	---					
CSF3R	1441	broad.mit.edu	37	1	36935322	36935323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:36935322_36935323insG	ENST00000373103.1	-	11	1951_1952	c.1404_1405insC	c.(1402-1407)ccgcgcfs	p.R469fs	CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373106.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.R469fs	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	469	Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGCTCGCGCTGGGGGGGCCCA	0.634													26	314	---	---	---	---					
HIVEP3	59269	broad.mit.edu	37	1	42050006	42050007	+	Frame_Shift_Ins	INS	-	-	G	rs138785392		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:42050006_42050007insG	ENST00000372584.1	-	3	1476_1477	c.462_463insC	c.(460-465)ccaggafs	p.G155fs	HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000372583.1_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													7	524	---	---	---	---					
KDM4A	9682	broad.mit.edu	37	1	44156564	44156565	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:44156564_44156565insC	ENST00000372396.3	+	14	2220_2221	c.2086_2087insC	c.(2086-2088)cccfs	p.P696fs		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	696					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TTCAGATTTAGCCCCCCAGAAG	0.470													14	842	---	---	---	---					
RNF220	55182	broad.mit.edu	37	1	44878032	44878033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													21	1993	---	---	---	---					
MAST2	23139	broad.mit.edu	37	1	46494558	46494559	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:46494558_46494559insT	ENST00000361297.2	+	18	2454_2455	c.2171_2172insT	c.(2170-2172)cttfs	p.L724fs	MAST2_ENST00000372009.2_Frame_Shift_Ins_p.L654fs|MAST2_ENST00000372008.1_Frame_Shift_Ins_p.L609fs	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	724	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GGCTGCGTCCCTTTTTTTGGAG	0.550													11	527	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)ccctatfs	p.Y118fs	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594													22	594	---	---	---	---					
ROR1	4919	broad.mit.edu	37	1	64516358	64516359	+	Splice_Site	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:64516358_64516359insC	ENST00000371079.1	+	4	827_828	c.451_splice	c.e4-1	p.A151_splice	ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Splice_Site_p.A151_splice	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	151					transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						ATTTCTTCAGGCCCCCCTCCCA	0.396													7	635	---	---	---	---					
JAK1	3716	broad.mit.edu	37	1	65325832	65325833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:65325832_65325833insG	ENST00000342505.4	-	9	1537_1538	c.1289_1290insC	c.(1288-1290)cttfs	p.L430fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	430					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GGACGATCAACGGGGGGGCCAC	0.540			Mis		ALL								20	406	---	---	---	---					
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:89613321_89613322insC	ENST00000294671.2	-	8	1431_1432	c.1293_1294insG	c.(1291-1296)ggacaafs	p.Q432fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	432						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436													10	158	---	---	---	---					
LRRC8C	84230	broad.mit.edu	37	1	90179646	90179647	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													8	146	---	---	---	---					
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													27	414	---	---	---	---					
PRPF38B	55119	broad.mit.edu	37	1	109242455	109242456	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:109242455_109242456insA	ENST00000370021.1	+	7	1758_1759	c.1121_1122insA	c.(1120-1122)taafs	p.*374fs	PRPF38B_ENST00000370025.4_Frame_Shift_Ins_p.*485fs			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	485	Arg-rich.				mRNA processing|RNA splicing	spliceosomal complex		p.R488fs*4(1)		NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GTTGAAAAATCAAAAAAACGGG	0.361													8	376	---	---	---	---					
CELSR2	1952	broad.mit.edu	37	1	109807570	109807571	+	Frame_Shift_Ins	INS	-	-	C	rs115193384	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:109807570_109807571insC	ENST00000271332.3	+	12	5606_5607	c.5545_5546insC	c.(5545-5547)cccfs	p.P1849fs		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1849	EGF-like 6; calcium-binding.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CAAGCCCAGTGCCCCCCATGGC	0.564													8	325	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													51	657	---	---	---	---					
FAM212B	55924	broad.mit.edu	37	1	112269658	112269659	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													10	1327	---	---	---	---					
NBPF10	100132406	broad.mit.edu	37	1	145297684	145297685	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:145297684_145297685insC	ENST00000342960.5	+	4	594_595	c.559_560insC	c.(559-561)cccfs	p.P187fs	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	187										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGAATCATCTGCCCCCAGGTAA	0.436													8	1411	---	---	---	---					
ITGA10	8515	broad.mit.edu	37	1	145527707	145527708	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:145527707_145527708insG	ENST00000369304.3	+	2	322_323	c.147_148insG	c.(145-150)gtggggfs	p.VG49fs	ITGA10_ENST00000539363.1_Intron|ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.W24fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	49					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)					TACAACATGTTGGGGGTGGACA	0.525													7	975	---	---	---	---					
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1624-1629)gaccccfs	p.DP542fs	ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs|ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs	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													20	470	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1254)tccfs	p.S418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAGGTTTGCCCCCCGCCAG	0.500													11	757	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145585532	145585533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:145585532_145585533insG	ENST00000393045.2	+	14	1887_1888	c.1797_1798insG	c.(1795-1800)ccggggfs	p.PG599fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.PG564fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	599					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGTGGCCCCTGGGGGGGCCTT	0.663													7	173	---	---	---	---					
NBPF14	25832	broad.mit.edu	37	1	148009439	148009439	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:148009439delG	ENST00000369219.1	-	16	1884	c.1868delC	c.(1867-1869)tafs	p.S623fs				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	623	NBPF 7.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AAGACAACCTGAAGGAGTTGA	0.483													15	1997	---	---	---	---					
TARS2	80222	broad.mit.edu	37	1	150477198	150477199	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:150477198_150477199insG	ENST00000369064.3	+	15	1843_1844	c.1809_1810insG	c.(1807-1812)tgggggfs	p.WG603fs	TARS2_ENST00000369054.2_Frame_Shift_Ins_p.WG473fs|TARS2_ENST00000606933.1_Frame_Shift_Ins_p.WG521fs	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	603					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	p.C603C(2)|p.G604W(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CAGAAAGCTGCGGGGGGAAATG	0.569													7	804	---	---	---	---					
SETDB1	9869	broad.mit.edu	37	1	150917623	150917624	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													9	50	---	---	---	---					
CELF3	11189	broad.mit.edu	37	1	151681714	151681715	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:151681714_151681715insC	ENST00000290583.4	-	4	1180_1181	c.387_388insG	c.(385-390)ggcagafs	p.R130fs	CELF3_ENST00000290585.4_Frame_Shift_Ins_p.R130fs|CELF3_ENST00000470688.1_5'UTR	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	130	RRM 2.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						GTGCCATCTGGCCCCCGGAGCA	0.614													9	1276	---	---	---	---					
HRNR	388697	broad.mit.edu	37	1	152191276	152191277	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:152191276_152191277insC	ENST00000368801.2	-	3	2903_2904	c.2828_2829insG	c.(2827-2829)gtafs	p.V943fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	943					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGAGTGTAACCAGAGGACTG	0.569													20	273	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152324465	152324466	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:152324465_152324466insAT	ENST00000388718.5	-	3	5868_5869	c.5796_5797insAT	c.(5794-5799)cagccafs	p.P1933fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1933							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)			CTAGGGTGGCCATGTTCAGTGG	0.520													23	801	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152325663	152325663	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:152325663delT	ENST00000388718.5	-	3	4671	c.4599delA	c.(4597-4599)gafs	p.E1533fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1533							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)			GAATTATGGATTCTGACTCTC	0.493													17	903	---	---	---	---					
KPRP	448834	broad.mit.edu	37	1	152732263	152732263	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:152732263delT	ENST00000368773.1	+	2	257	c.199delT	c.(199-201)ctfs	p.S67fs	KPRP_ENST00000606109.1_Frame_Shift_Del_p.S67fs	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	67	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCATGCCAGTCTCAGACCAC	0.557													25	936	---	---	---	---					
PGLYRP4	57115	broad.mit.edu	37	1	153317810	153317811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:153317810_153317811insC	ENST00000368739.3	-	4	533_534	c.175_176insG	c.(175-177)agafs	p.R59fs	PGLYRP4_ENST00000359650.5_Frame_Shift_Ins_p.R63fs|PGLYRP4_ENST00000490266.1_5'UTR			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	63					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACAGCTTCTGCCCCCCATGCC	0.589													16	1166	---	---	---	---					
RUSC1	23623	broad.mit.edu	37	1	155292753	155292779	+	In_Frame_Del	DEL	GTCCCGCCCCGGCCCCCACCCCCGCCT	GTCCCGCCCCGGCCCCCACCCCCGCCT	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:155292753_155292779delGTCCCGCCCCGGCCCCCACCCCCGCCT	ENST00000368352.5	+	2	1340_1366	c.1189_1215delGTCCCGCCCCGGCCCCCACCCCCGCCT	c.(1189-1215)del	p.VPPRPPPPP397del	RUSC1_ENST00000368354.3_In_Frame_Del_p.VPPRPPPPP397del|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	397						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CTGGGCTTTGGTCCCGCCCCGGCCCCCACCCCCGCCTGTCCCTCCCC	0.718													7	7	---	---	---	---					
ASH1L	55870	broad.mit.edu	37	1	155491185	155491186	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:155491185_155491186insT	ENST00000368346.3	-	2	764_765	c.125_126insA	c.(124-126)aacfs	p.N42fs	ASH1L_ENST00000548830.1_Frame_Shift_Ins_p.N42fs|ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.N42fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	42					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCTCCTTTGTGTTTTTTTCTAG	0.431													10	1570	---	---	---	---					
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:156708444_156708445insG	ENST00000361531.2	-	2	188_189	c.52_53insC	c.(52-54)ttafs	p.L18fs	MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.L18fs			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	18					translation	mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATAGCGGTAATGGGGGGGCAGA	0.574													8	261	---	---	---	---					
KIRREL	55243	broad.mit.edu	37	1	158058202	158058203	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:158058202_158058203insC	ENST00000368172.1	+	4	408_409	c.396_397insC	c.(394-399)aaccccfs	p.NP132fs	KIRREL_ENST00000360089.4_Frame_Shift_Ins_p.NP170fs|KIRREL_ENST00000392272.2_Frame_Shift_Ins_p.NP231fs|KIRREL_ENST00000416935.2_Frame_Shift_Ins_p.NP234fs|KIRREL_ENST00000359209.6_Frame_Shift_Ins_p.NP334fs|KIRREL_ENST00000368173.3_Frame_Shift_Ins_p.NP334fs			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	334	Ig-like C2-type 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGGTTGGGAATCCCCCCCTCAC	0.455													10	556	---	---	---	---					
CD1C	911	broad.mit.edu	37	1	158262099	158262100	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													11	2541	---	---	---	---					
RCSD1	92241	broad.mit.edu	37	1	167654710	167654711	+	Frame_Shift_Ins	INS	-	-	C	rs144007158	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:167654710_167654711insC	ENST00000367854.3	+	3	492_493	c.161_162insC	c.(160-162)tccfs	p.S54fs	RCSD1_ENST00000537350.1_Intron	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	54										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CTCCCCCTGTTCCCCCCCAAGG	0.554													12	241	---	---	---	---					
ADCY10	55811	broad.mit.edu	37	1	167865905	167865906	+	Frame_Shift_Ins	INS	-	-	G	rs35604923		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:167865905_167865906insG	ENST00000367848.1	-	7	887_888	c.390_391insC	c.(388-393)ccatttfs	p.F131fs	ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.F70fs|ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.F223fs			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	223	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAATTAAAATTGGGGGGTGGTT	0.332													8	475	---	---	---	---					
FMO1	2326	broad.mit.edu	37	1	171227337	171227338	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													10	496	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176563963	176563964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:176563963_176563964insG	ENST00000367662.3	+	3	2387_2388	c.1223_1224insG	c.(1222-1224)cggfs	p.R408fs	PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.R408fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	408					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.L408fs*49(2)|p.L408L(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTTTGCTCCTGGGGGGAGACA	0.574													10	639	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176762723	176762724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:176762723_176762724insC	ENST00000367662.3	+	20	6212_6213	c.5048_5049insC	c.(5047-5049)accfs	p.T1683fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1683	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGTGTGTAATCCCCCCCAGTG	0.470													32	657	---	---	---	---					
DHX9	1660	broad.mit.edu	37	1	182852697	182852698	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:182852697_182852698insC	ENST00000367549.3	+	26	3297_3298	c.3187_3188insC	c.(3187-3189)cccfs	p.P1063fs	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1063				T -> P (in Ref. 1; AAB48855 and 2; CAA71668).	CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GACTTTAGTCACCCCCCTGCAG	0.441													11	528	---	---	---	---					
FAM129A	116496	broad.mit.edu	37	1	184764537	184764538	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:184764537_184764538insC	ENST00000367511.3	-	14	2553_2554	c.2360_2361insG	c.(2359-2361)gttfs	p.V787fs	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	787	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CCTCTGGAAATCCCCCCAACTC	0.668													7	701	---	---	---	---					
NAV1	89796	broad.mit.edu	37	1	201779175	201779176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:201779175_201779176insC	ENST00000367296.4	+	23	4923_4924	c.4503_4504insC	c.(4501-4506)gaccccfs	p.DP1501fs	NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1501					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGATGCAGAGCCCCCCGAGAT	0.525													18	468	---	---	---	---					
FMOD	2331	broad.mit.edu	37	1	203316469	203316470	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:203316469_203316470insG	ENST00000354955.4	-	2	1392_1393	c.929_930insC	c.(928-930)cgtfs	p.R310fs	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	310					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		p.P310R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TGGTGTTGACTGGGGGGATCTT	0.525													7	502	---	---	---	---					
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-255)accfs	p.T85fs	ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_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													12	328	---	---	---	---					
GOLT1A	127845	broad.mit.edu	37	1	204170835	204170836	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:204170835_204170836insC	ENST00000308302.3	-	3	406_407	c.221_222insG	c.(220-222)ggtfs	p.G74fs		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	74					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CGATAACCACACCCCCCAGGAG	0.545													7	927	---	---	---	---					
NFASC	23114	broad.mit.edu	37	1	204924032	204924033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:204924032_204924033insC	ENST00000367172.4	+	7	816_817	c.488_489insC	c.(487-489)accfs	p.T163fs	NFASC_ENST00000403080.1_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000404076.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000513543.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000401399.1_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000360049.4_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000338515.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000339876.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000539706.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000367171.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000367170.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000367169.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000338586.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000404907.1_Frame_Shift_Ins_p.T157fs			O94856	NFASC_HUMAN	neurofascin	163	Ig-like C2-type 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.P159fs*12(1)|p.P165fs*12(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTCCAGTGCAACCCCCCGCCTG	0.559													8	720	---	---	---	---					
RBBP5	5929	broad.mit.edu	37	1	205065949	205065950	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:205065949_205065950insG	ENST00000264515.6	-	12	1397_1398	c.1256_1257insC	c.(1255-1257)cccfs	p.P419fs	RBBP5_ENST00000367164.1_Frame_Shift_Ins_p.P419fs	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	419					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CTGCATCCGGTGGGGGGCCGTA	0.505													7	401	---	---	---	---					
DYRK3	8444	broad.mit.edu	37	1	206821937	206821938	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:206821937_206821938insG	ENST00000367106.1	+	4	1807_1808	c.1334_1335insG	c.(1333-1335)gggfs	p.G445fs	DYRK3_ENST00000367108.3_Frame_Shift_Ins_p.G445fs|DYRK3_ENST00000367109.2_Frame_Shift_Ins_p.G465fs|DYRK3_ENST00000489878.1_Intron			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	465	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V430V(1)|p.V465V(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GTTGTGCTTGTGGGGGGTCGCT	0.530													8	750	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|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													30	634	---	---	---	---					
DIEXF	27042	broad.mit.edu	37	1	210014266	210014267	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:210014266_210014267insC	ENST00000491415.2	+	8	1408_1409	c.1351_1352insC	c.(1351-1353)cccfs	p.P451fs		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	451					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CCTCATTGCTTCCCCCCTGGGC	0.465													11	610	---	---	---	---					
PROX1	5629	broad.mit.edu	37	1	214170285	214170286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:214170285_214170286insC	ENST00000366958.4	+	2	1015_1016	c.407_408insC	c.(406-408)accfs	p.T136fs	PROX1_ENST00000261454.4_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000435016.1_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000498508.2_Frame_Shift_Ins_p.T136fs	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	136					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCAAGAGACAGCCCCCCAGAGT	0.530													12	375	---	---	---	---					
TRIM17	51127	broad.mit.edu	37	1	228596934	228596935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:228596934_228596935insG	ENST00000366697.2	-	5	1777_1778	c.821_822insC	c.(820-822)cacfs	p.H274fs	TRIM17_ENST00000366698.2_Frame_Shift_Ins_p.H274fs|TRIM17_ENST00000295033.3_Frame_Shift_Ins_p.H274fs|TRIM17_ENST00000456946.2_Frame_Shift_Ins_p.H274fs|RP11-245P10.4_ENST00000436779.1_RNA			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	274					protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TGGGTCTGGTTGGGGGGGCAAC	0.579													12	210	---	---	---	---					
ACTA1	58	broad.mit.edu	37	1	229567546	229567547	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:229567546_229567547insC	ENST00000366684.3	-	6	1013_1014	c.911_912insG	c.(910-912)gacfs	p.D304fs	ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.D216fs	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	304					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	ACATCGTGGTGCCCCCCGACAT	0.589													9	262	---	---	---	---					
SIPA1L2	57568	broad.mit.edu	37	1	232650637	232650638	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:232650637_232650638insG	ENST00000366630.1	-	2	806_807	c.448_449insC	c.(448-450)aagfs	p.K150fs	SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.K150fs			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	150					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAGTCCTCTTTGGGGGGAATGG	0.490													11	665	---	---	---	---					
DNMT3A	1788	broad.mit.edu	37	2	25523008	25523009	+	Splice_Site	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:25523008_25523009insG	ENST00000264709.3	-	3	513_514	c.177_splice	c.e3+1	p.R59_splice	DNMT3A_ENST00000406659.3_Splice_Site_p.R59_splice|DNMT3A_ENST00000321117.5_Splice_Site_p.R59_splice	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	59					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACACTCACCGGGGGGTGCTT	0.649			"""Mis, F, N, S"""		AML								11	136	---	---	---	---					
NRBP1	29959	broad.mit.edu	37	2	27658017	27658018	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:27658017_27658018insC	ENST00000233557.3	+	8	1416_1417	c.584_585insC	c.(583-585)gccfs	p.A195fs	NRBP1_ENST00000379852.3_Frame_Shift_Ins_p.A195fs|NRBP1_ENST00000379863.3_Frame_Shift_Ins_p.A195fs			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	195	Protein kinase.				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CACTCCTGTGACCCCCCCATCA	0.589													12	313	---	---	---	---					
IFT172	26160	broad.mit.edu	37	2	27684150	27684150	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:27684150delC	ENST00000260570.3	-	22	2531	c.2428delG	c.(2428-2430)aafs	p.E810fs		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	810					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCGTAGAGTTCCCCCTTGATA	0.567													151	250	---	---	---	---					
ANTXR1	84168	broad.mit.edu	37	2	69409763	69409764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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	502	---	---	---	---					
ADD2	119	broad.mit.edu	37	2	70905849	70905850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:70905849_70905850insG	ENST00000264436.3	-	11	1813_1814	c.1369_1370insC	c.(1369-1371)accfs	p.T457fs	ADD2_ENST00000355733.3_Frame_Shift_Ins_p.T457fs|ADD2_ENST00000430656.1_Frame_Shift_Ins_p.T473fs|ADD2_ENST00000407644.2_Frame_Shift_Ins_p.T457fs|ADD2_ENST00000413157.2_Frame_Shift_Ins_p.T457fs	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	457					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GGTCTTGGGTCGGGGGCTGCCC	0.594													10	1380	---	---	---	---					
NAT8	9027	broad.mit.edu	37	2	73868515	73868516	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:73868515_73868516insT	ENST00000272425.3	-	2	389_390	c.240_241insA	c.(238-243)aacctgfs	p.NL80fs		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	80	N-acetyltransferase.				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						TCCGTCCAGGGTTTTTTGGCAA	0.564													8	472	---	---	---	---					
SLC4A5	57835	broad.mit.edu	37	2	74480126	74480127	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:74480126_74480127insG	ENST00000394019.2	-	15	1639_1640	c.1242_1243insC	c.(1240-1245)ccagaafs	p.E415fs	SLC4A5_ENST00000377632.1_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000377634.4_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000359484.4_Frame_Shift_Ins_p.E351fs|SLC4A5_ENST00000358683.4_Frame_Shift_Ins_p.E351fs|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000357822.5_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000346834.4_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000423644.1_Frame_Shift_Ins_p.E415fs	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	415						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGCACCTTCTTGGGGGGCTCAA	0.475													9	300	---	---	---	---					
DCTN1	1639	broad.mit.edu	37	2	74593376	74593377	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:74593376_74593377insG	ENST00000361874.3	-	23	3071_3072	c.2754_2755insC	c.(2752-2757)ccgcaafs	p.Q919fs	DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.Q899fs|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.Q882fs|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.Q912fs|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.Q902fs	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	919					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTACCTTGCTGGGGGGCCGCT	0.559													9	944	---	---	---	---					
RTKN	6242	broad.mit.edu	37	2	74653449	74653450	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:74653449_74653450insG	ENST00000305557.5	-	13	2158_2159	c.1573_1574insC	c.(1573-1575)cccfs	p.P525fs	RTKN_ENST00000233330.6_Frame_Shift_Ins_p.P488fs|RTKN_ENST00000272430.5_Frame_Shift_Ins_p.P538fs	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	538	Pro-rich.				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						CTGAGGTGGGAGGGGGGCAACC	0.653													12	317	---	---	---	---					
PCGF1	84759	broad.mit.edu	37	2	74732899	74732900	+	Splice_Site	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:74732899_74732900insG	ENST00000233630.6	-	6	1442		c.e6-2		PCGF1_ENST00000480844.2_Splice_Site	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1						histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						TTGCCAGAACTGGGGGGAAATA	0.530													7	500	---	---	---	---					
HK2	3099	broad.mit.edu	37	2	75113706	75113707	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:75113706_75113707insG	ENST00000290573.2	+	15	2725_2726	c.2125_2126insG	c.(2125-2127)gggfs	p.G709fs	HK2_ENST00000409174.1_Frame_Shift_Ins_p.G681fs	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	709	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GAACATGGAATGGGGGGCCTTC	0.564													7	571	---	---	---	---					
LINC00152	112597	broad.mit.edu	37	2	87865524	87865525	+	RNA	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:87865524_87865525insC	ENST00000409054.1	+	0	278					NR_015395.1																						AAAATAAATTTCCCCCCAGAAC	0.455													8	494	---	---	---	---					
EDAR	10913	broad.mit.edu	37	2	109539836	109539837	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:109539836_109539837insG	ENST00000409271.1	-	6	872_873	c.429_430insC	c.(427-432)ccacacfs	p.H144fs	EDAR_ENST00000258443.2_Frame_Shift_Ins_p.H144fs|EDAR_ENST00000376651.1_Frame_Shift_Ins_p.H144fs			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	144					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TCCTTGGTGTTGGGGGGTGCCA	0.535													12	573	---	---	---	---					
SAP130	79595	broad.mit.edu	37	2	128774049	128774050	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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	284	---	---	---	---					
NCKAP5	344148	broad.mit.edu	37	2	133541083	133541084	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:133541083_133541084insG	ENST00000409261.1	-	14	3673_3674	c.3300_3301insC	c.(3298-3303)ccagccfs	p.A1101fs	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Ins_p.A1101fs|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1101	Ser-rich.						protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AAGGAAGGCTTGGGGGGTGTGG	0.505													12	776	---	---	---	---					
KCNH7	90134	broad.mit.edu	37	2	163250997	163250997	+	Splice_Site	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:163250997delT	ENST00000332142.5	-	12	2713		c.e12-2			NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7						regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GAGATCAGCCTTTGTTAATGG	0.323													63	132	---	---	---	---					
KCNH7	90134	broad.mit.edu	37	2	163256860	163256861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:163256860_163256861insC	ENST00000332142.5	-	10	2344_2345	c.2245_2246insG	c.(2245-2247)aagfs	p.K749fs		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	749					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.A749fs*3(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ACCTTTACTTGCCCCCCGAAAG	0.485													7	298	---	---	---	---					
FIGN	55137	broad.mit.edu	37	2	164467542	164467543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:164467542_164467543insC	ENST00000333129.3	-	3	1113_1114	c.799_800insG	c.(799-801)accfs	p.T267fs	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	267	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	p.A267fs*100(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGGAGGCGGTGCCCCCCCAGGG	0.609													7	155	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2053-2058)acggggfs	p.TG685fs	XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	510					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATGT	0.421													16	324	---	---	---	---					
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:171240258_171240259insC	ENST00000334231.6	+	12	1251_1252	c.1251_1252insC	c.(1249-1254)aaccccfs	p.NP417fs	MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs			Q8WXR4	MYO3B_HUMAN	myosin IIIB	408	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465													15	355	---	---	---	---					
AC096649.3	0	broad.mit.edu	37	2	176190119	176190259	+	RNA	DEL	GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	-	rs148912092	by1000genomes	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	ENST00000438963.1	+	0	247																											gctgtgtggcggtatcacaacctctactcagttctactacaaactgtctcaagaactagatttatacaatcatgtacctaagccccgcaacaaaagagtacccattcttccttttgttatcagagcaggagtgctaggtgtgctgtgtggtggtatcacaa	0.440													250	744	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)gggfs	p.G559fs	ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GACTATTTCAAGGGGGGGACTG	0.431													15	610	---	---	---	---					
CTLA4	1493	broad.mit.edu	37	2	204736165	204736166	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:204736165_204736166insT	ENST00000302823.3	+	3	679_680	c.522_523insT	c.(520-525)ttttttfs	p.FF174fs	CTLA4_ENST00000427473.2_Intron|CTLA4_ENST00000487393.1_Intron|CTLA4_ENST00000472206.1_Intron|CTLA4_ENST00000295854.6_Intron	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	174					B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm				large_intestine(4)|lung(4)|skin(1)	9					Abatacept(DB01281)	GTTCGGGGTTGTTTTTTTATAG	0.475													7	962	---	---	---	---					
ATIC	471	broad.mit.edu	37	2	216182915	216182916	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:216182915_216182916insG	ENST00000435675.1	+	2	570_571	c.179_180insG	c.(178-180)tggfs	p.W60fs	ATIC_ENST00000236959.9_Frame_Shift_Ins_p.W61fs|ATIC_ENST00000540518.1_Frame_Shift_Ins_p.W2fs			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	61					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	CCTGAAATGTTGGGGGGACGTG	0.396			T	ALK	ALCL								10	570	---	---	---	---					
RUFY4	285180	broad.mit.edu	37	2	218940309	218940310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:218940309_218940310insG	ENST00000374155.3	+	8	1564_1565	c.1154_1155insG	c.(1153-1155)tggfs	p.W385fs	RUFY4_ENST00000344321.7_Frame_Shift_Ins_p.W365fs|RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000441828.2_3'UTR			Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	365							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGCAGGGGTCGGGGGGCTCTA	0.594													8	253	---	---	---	---					
VIL1	7429	broad.mit.edu	37	2	219301984	219301985	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:219301984_219301985insC	ENST00000248444.5	+	17	2197_2198	c.2109_2110insC	c.(2107-2112)gaccccfs	p.DP703fs	VIL1_ENST00000392114.2_Frame_Shift_Ins_p.DP392fs	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	703	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)		AGGGACACGAGCCCCCCACCTT	0.594													7	315	---	---	---	---					
NYAP2	57624	broad.mit.edu	37	2	226447071	226447072	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:226447071_226447072insC	ENST00000272907.6	+	4	1351_1352	c.938_939insC	c.(937-939)tccfs	p.S313fs	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	313	Pro-rich.																TCAGTGCCATGCCCCCCCAAGG	0.619													14	138	---	---	---	---					
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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_ENST00000538935.1_Frame_Shift_Ins_p.P403fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535													32	641	---	---	---	---					
DGKD	8527	broad.mit.edu	37	2	234365951	234365952	+	Frame_Shift_Ins	INS	-	-	G	rs35538077		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:234365951_234365952insG	ENST00000264057.2	+	21	2569_2570	c.2557_2558insG	c.(2557-2559)gggfs	p.G853fs	DGKD_ENST00000409813.3_Frame_Shift_Ins_p.G809fs	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	853					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AACCAACTTCTGGGGGGGTACC	0.579													13	156	---	---	---	---					
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cctfs	p.P202fs	NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs	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													16	341	---	---	---	---					
PPP1R7	5510	broad.mit.edu	37	2	242092998	242092999	+	Frame_Shift_Ins	INS	-	-	G	rs140300724		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:242092998_242092999insG	ENST00000234038.6	+	2	634_635	c.160_161insG	c.(160-162)gggfs	p.G54fs	PPP1R7_ENST00000402734.1_Intron|PPP1R7_ENST00000406106.3_Frame_Shift_Ins_p.G54fs|PPP1R7_ENST00000404405.3_Frame_Shift_Ins_p.G54fs|PPP1R7_ENST00000407025.1_Frame_Shift_Ins_p.G54fs|PPP1R7_ENST00000401987.1_Intron|PPP1R7_ENST00000272983.8_Intron	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	54						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		TGGGGAGGAGCGGGGGGAGGAG	0.629													7	286	---	---	---	---					
ITPR1	3708	broad.mit.edu	37	3	4712502	4712503	+	Frame_Shift_Ins	INS	-	-	G	rs149971162	by1000genomes	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:4712502_4712503insG	ENST00000354582.6	+	20	2446_2447	c.2096_2097insG	c.(2095-2097)cttfs	p.L699fs	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Frame_Shift_Ins_p.L684fs|ITPR1_ENST00000456211.2_Frame_Shift_Ins_p.L684fs|ITPR1_ENST00000357086.4_Frame_Shift_Ins_p.L699fs|ITPR1_ENST00000423119.2_Frame_Shift_Ins_p.L699fs|ITPR1_ENST00000302640.8_Frame_Shift_Ins_p.L684fs			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	699					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GAGGTGTGGCTGTTTTGGAGGG	0.490													7	33	---	---	---	---					
SRGAP3	9901	broad.mit.edu	37	3	9034599	9034600	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:9034599_9034600insC	ENST00000383836.3	-	20	2975_2976	c.2548_2549insG	c.(2548-2550)gatfs	p.D850fs	SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.D826fs	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	850					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCGGCCCATCACCCCCCCAAAG	0.554			T	RAF1	pilocytic astrocytoma								9	94	---	---	---	---					
VILL	50853	broad.mit.edu	37	3	38043303	38043304	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:38043303_38043304insC	ENST00000283713.6	+	13	1697_1698	c.1431_1432insC	c.(1429-1434)gaccccfs	p.DP477fs	VILL_ENST00000383759.2_Frame_Shift_Ins_p.DP477fs|VILL_ENST00000465644.1_Frame_Shift_Ins_p.DP195fs			O15195	VILL_HUMAN	villin-like	477					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	p.H480fs*38(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGGCAGCGAGCCCCCCCACTT	0.594													8	163	---	---	---	---					
SLC38A3	10991	broad.mit.edu	37	3	50255143	50255144	+	RNA	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:50255143_50255144insC	ENST00000420502.1	+	0	879_880							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	CCTGCCCACTGCCCCCCAACTT	0.584													7	92	---	---	---	---					
PBRM1	55193	broad.mit.edu	37	3	52597506	52597506	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:52597506delT	ENST00000356770.4	-	23	3785	c.3783delA	c.(3781-3783)aafs	p.K1261fs	PBRM1_ENST00000337303.4_Frame_Shift_Del_p.K1293fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.K1308fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.K1308fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.K1293fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.K1268fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.K1268fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000296302.7_Frame_Shift_Del_p.K1293fs			Q86U86	PB1_HUMAN	polybromo 1	1293	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GAACAATTGGTTTTCTGAAAA	0.408			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								112	37	---	---	---	---					
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(124-129)ttggggfs	p.LG42fs	KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	42	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465													16	449	---	---	---	---					
B4GALT4	8702	broad.mit.edu	37	3	118937592	118937593	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:118937592_118937593insC	ENST00000467604.1	-	6	1092_1093	c.701_702insG	c.(700-702)ggtfs	p.G234fs	B4GALT4_ENST00000359213.3_Frame_Shift_Ins_p.G234fs|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000393765.2_Frame_Shift_Ins_p.G234fs|B4GALT4_ENST00000483209.1_Frame_Shift_Ins_p.G234fs			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	234					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	GGGCAGTAACACCCCCAAAATA	0.465													7	407	---	---	---	---					
PDIA5	10954	broad.mit.edu	37	3	122869088	122869089	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:122869088_122869089insC	ENST00000316218.7	+	14	1245_1246	c.1150_1151insC	c.(1150-1152)cccfs	p.P384fs	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	384	Thioredoxin 2.|Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		CAGCCCTGAGGCCCCCCCGCCC	0.604													10	330	---	---	---	---					
MUC13	56667	broad.mit.edu	37	3	124646628	124646629	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:124646628_124646629insG	ENST00000311075.3	-	2	299_300	c.261_262insC	c.(259-264)cctaatfs	p.N88fs		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	88	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GTACTAATTATGGGGGGAGCAG	0.441													7	1038	---	---	---	---					
TRH	7200	broad.mit.edu	37	3	129695642	129695643	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:129695642_129695643insG	ENST00000302649.3	+	3	839_840	c.312_313insG	c.(310-315)gaggggfs	p.EG104fs	TRH_ENST00000507066.1_Frame_Shift_Ins_p.EG100fs	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	104					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						aagaggaagaagggggggCTGT	0.569													16	196	---	---	---	---					
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													14	805	---	---	---	---					
CPHL1P	389160	broad.mit.edu	37	3	148999032	148999033	+	RNA	INS	-	-	GAA	rs67798399	by1000genomes	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:148999032_148999033insGAA	ENST00000482639.2	-	0	195																											GGGAAGACACTGAACAGtaaga	0.500													3	3	---	---	---	---					
PHC3	80012	broad.mit.edu	37	3	169890470	169890471	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:169890470_169890471insG	ENST00000494943.1	-	3	242_243	c.174_175insC	c.(172-177)ccgctcfs	p.L59fs	PHC3_ENST00000481639.1_Frame_Shift_Ins_p.L67fs|PHC3_ENST00000474275.1_Frame_Shift_Ins_p.L55fs|PHC3_ENST00000467570.1_Frame_Shift_Ins_p.L71fs|PHC3_ENST00000495893.1_Frame_Shift_Ins_p.L71fs|PHC3_ENST00000497658.1_Frame_Shift_Ins_p.L71fs			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	59					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GCAGCTGAGCTGGGGGGCCGAT	0.441													8	290	---	---	---	---					
ABCC5	10057	broad.mit.edu	37	3	183700629	183700630	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:183700629_183700630insC	ENST00000334444.6	-	6	997_998	c.757_758insG	c.(757-759)catfs	p.H253fs	ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.H253fs	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	253	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGTTAGGATGGCCCCCCGCAAG	0.515													9	317	---	---	---	---					
SLC51A	200931	broad.mit.edu	37	3	195955037	195955038	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:195955037_195955038insG	ENST00000296327.5	+	5	623_624	c.414_415insG	c.(412-417)ttggggfs	p.LG138fs		NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		TGGAAGGCTTTGGGGGGAAGGA	0.614													10	1014	---	---	---	---					
PIGZ	80235	broad.mit.edu	37	3	196674359	196674360	+	Frame_Shift_Ins	INS	-	-	G	rs147904272		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:196674359_196674360insG	ENST00000412723.1	-	3	1554_1555	c.1408_1409insC	c.(1408-1410)gcafs	p.A470fs		NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	470					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		TAGGAGGTGCCGGGGGGGCATG	0.644													12	97	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1389330	1389331	+	Frame_Shift_Del	DEL	CA	CA	-	rs71299249		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:1389330_1389331delCA	ENST00000324803.4	+	1	3991_3992	c.1031_1032delCA	c.(1030-1032)tfs	p.S344fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	344					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCCGCCTGCTCACACGTGCCCA	0.658													9	171	---	---	---	---					
IGFBP7	3490	broad.mit.edu	37	4	57907076	57907077	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:57907076_57907077insG	ENST00000295666.4	-	2	531_532	c.498_499insC	c.(496-501)ccaggafs	p.G167fs	IGFBP7_ENST00000537922.1_Frame_Shift_Ins_p.G167fs|IGFBP7_ENST00000512512.1_5'UTR	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	167	Ig-like C2-type.				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGATGTCCTTGGGGGGCGTCA	0.505													7	245	---	---	---	---					
C4orf40	401137	broad.mit.edu	37	4	71024317	71024318	+	Frame_Shift_Ins	INS	-	-	T	rs148239542		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:71024317_71024318insT	ENST00000344526.5	+	3	537_538	c.348_349insT	c.(346-351)agttttfs	p.SF116fs	C4orf40_ENST00000502294.1_Frame_Shift_Ins_p.SF116fs|C4orf40_ENST00000502441.2_3'UTR	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	116						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTCCTTCAAGGTTTTTTTCAGC	0.550													7	352	---	---	---	---					
FRAS1	80144	broad.mit.edu	37	4	79238582	79238583	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													12	117	---	---	---	---					
HPGDS	27306	broad.mit.edu	37	4	95223320	95223321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:95223320_95223321insC	ENST00000295256.5	-	5	501_502	c.411_412insG	c.(409-414)gggagafs	p.R138fs		NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	138	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	AGCCATTCTCTCCCCCCTAAAT	0.351													8	440	---	---	---	---					
FBXW7	55294	broad.mit.edu	37	4	153244155	153244156	+	Frame_Shift_Ins	INS	-	-	C	rs7679116		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:153244155_153244156insC	ENST00000281708.4	-	12	3230_3231	c.2001_2002insG	c.(1999-2004)gggtggfs	p.W668fs	FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.W588fs|FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.W492fs|FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.W668fs|FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.W668fs|FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.W550fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	668			S -> G (in dbSNP:rs7679116).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.S668fs*39(1)|p.S668fs*26(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTCCCCCACTCCCCCCACTCT	0.485			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								8	602	---	---	---	---					
FGG	2266	broad.mit.edu	37	4	155526058	155526059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:155526058_155526059insC	ENST00000404648.3	-	9	1528_1529	c.1289_1290insG	c.(1288-1290)ggcfs	p.G430fs	FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000336098.3_Frame_Shift_Ins_p.G430fs	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	430	Platelet aggregation and Staphylococcus clumping.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CCTGTTTGGCTCCCCCCAGGTG	0.450													7	413	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187558038	187558039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:187558038_187558039insG	ENST00000441802.2	-	5	3881_3882	c.3672_3673insC	c.(3670-3675)ccaatcfs	p.I1225fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1225	Cadherin 10.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGTTGATTTGGGGGGACTAC	0.361										HNSCC(5;0.00058)			7	561	---	---	---	---					
TRIML2	205860	broad.mit.edu	37	4	189012770	189012771	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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	437	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(928-933)atggggfs	p.MG310fs	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	310					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TGGGTGTGATTGGGGGGCAGCT	0.520													14	1054	---	---	---	---					
EGFLAM	133584	broad.mit.edu	37	5	38407191	38407192	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:38407191_38407192insG	ENST00000322350.5	+	8	1436_1437	c.1090_1091insG	c.(1090-1092)gggfs	p.G364fs	EGFLAM_ENST00000336740.6_Frame_Shift_Ins_p.G130fs|EGFLAM_ENST00000354891.3_Frame_Shift_Ins_p.G364fs|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	364	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse		p.S367fs*12(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGACTACACCTGGGGGGGCTCG	0.545													11	217	---	---	---	---					
ACTBL2	345651	broad.mit.edu	37	5	56778449	56778450	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:56778449_56778450insG	ENST00000423391.1	-	1	186_187	c.85_86insC	c.(85-87)ggcfs	p.G29fs	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	29						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GAACACAGCCCGGGGGGCATCG	0.584													8	188	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5895)accfs	p.T1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485													11	436	---	---	---	---					
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													8	167	---	---	---	---					
SEMA6A	57556	broad.mit.edu	37	5	115782764	115782765	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:115782764_115782765insG	ENST00000343348.6	-	19	3424_3425	c.2637_2638insC	c.(2635-2640)ccaagtfs	p.S880fs	SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.S307fs|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.S897fs|SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.S880fs|SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.S357fs|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.S259fs	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	880					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTGGAACTTTGGGGGGCAGGC	0.604													8	473	---	---	---	---					
ZNF608	57507	broad.mit.edu	37	5	123984683	123984684	+	Frame_Shift_Ins	INS	-	-	C	rs151227213		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:123984683_123984684insC	ENST00000306315.5	-	4	1828_1829	c.1393_1394insG	c.(1393-1395)caafs	p.Q465fs	ZNF608_ENST00000504926.1_Frame_Shift_Ins_p.Q38fs	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	465						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTTCCCATTGGCCCCCCCTCTG	0.629													11	229	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C	rs151053868		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													9	289	---	---	---	---					
EGR1	1958	broad.mit.edu	37	5	137803131	137803132	+	Frame_Shift_Ins	INS	-	-	C	rs148475837		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:137803131_137803132insC	ENST00000239938.4	+	2	1265_1266	c.993_994insC	c.(991-996)acccccfs	p.TP331fs		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	331					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCAGCAAGACGCCCCCCCACGA	0.649													14	134	---	---	---	---					
PCDHGC5	56097	broad.mit.edu	37	5	140870530	140870531	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:140870530_140870531insC	ENST00000252087.1	+	1	1723_1724	c.1723_1724insC	c.(1723-1725)cccfs	p.P575fs	PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		575	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACACTCAGCCCCCCAGCGT	0.589													11	557	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													11	831	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049509	141049510	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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	903	---	---	---	---					
PCDH1	5097	broad.mit.edu	37	5	141242814	141242815	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:141242814_141242815insG	ENST00000287008.3	-	3	3228_3229	c.3081_3082insC	c.(3079-3084)ccaatafs	p.I1028fs	PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Frame_Shift_Ins_p.I1006fs|PCDH1_ENST00000394536.3_Frame_Shift_Ins_p.I1028fs|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Frame_Shift_Ins_p.I1016fs	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	1028					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTGGGGTATTTGGGGGGGTTGG	0.634													14	275	---	---	---	---					
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													19	489	---	---	---	---					
PPP2R2B	5521	broad.mit.edu	37	5	145969651	145969652	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:145969651_145969652insC	ENST00000394413.3	-	9	1760_1761	c.1190_1191insG	c.(1189-1191)gaafs	p.E397fs	PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.E455fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.E463fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.E400fs|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.E386fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.E403fs			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	777	---	---	---	---					
TCOF1	6949	broad.mit.edu	37	5	149755744	149755745	+	Frame_Shift_Ins	INS	-	-	C	rs2071240	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:149755744_149755745insC	ENST00000451292.1	+	13	2101_2102	c.1993_1994insC	c.(1993-1995)cccfs	p.P665fs	TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000394269.3_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000504761.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.P588fs			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	665			A -> P (in dbSNP:rs2071240).		skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCACCCAAGCCCCCCGGAAA	0.584													12	539	---	---	---	---					
ADAM19	8728	broad.mit.edu	37	5	156915296	156915297	+	Frame_Shift_Ins	INS	-	-	G	rs11466804	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													8	408	---	---	---	---					
GABRA6	2559	broad.mit.edu	37	5	161116011	161116012	+	Frame_Shift_Ins	INS	-	-	G	rs143274925		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:161116011_161116012insG	ENST00000523217.1	+	4	494_495	c.252_253insG	c.(250-255)ttggggfs	p.LG84fs	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000274545.5_Frame_Shift_Ins_p.LG94fs	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	94					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGTTGAAGTTTGGGGGGCCAAC	0.406										TCGA Ovarian(5;0.080)			10	288	---	---	---	---					
RARS	5917	broad.mit.edu	37	5	167946165	167946166	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:167946165_167946166delCC	ENST00000231572.3	+	15	2007_2008	c.1953_1954delCC	c.(1951-1956)attgfs	p.IL651fs	RARS_ENST00000538719.1_Frame_Shift_Del_p.IL445fs	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	651				I -> T (in Ref. 1; AAB35627).	arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		GGTTTGATATCCTGGGAATAAA	0.396													7	156	---	---	---	---					
STK10	6793	broad.mit.edu	37	5	171517344	171517345	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:171517344_171517345insT	ENST00000176763.5	-	10	1919_1920	c.1576_1577insA	c.(1576-1578)cctfs	p.P526fs		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	526							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGCTTGAGGGTTTTTTTGTAC	0.515													9	1229	---	---	---	---					
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Frame_Shift_Ins	INS	-	-	C	rs55808116		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:10557409_10557410insC	ENST00000316170.3	+	1	1170_1171	c.753_754insC	c.(751-756)ccccccfs	p.PP251fs	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_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													23	348	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13185110	13185111	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:13185110_13185111insC	ENST00000379345.2	+	5	550_551	c.309_310insC	c.(307-312)ctccccfs	p.LP103fs	PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000379350.1_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	237						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TCCTGCTACTGCCCCCCAAAAA	0.584													8	162	---	---	---	---					
NRSN1	140767	broad.mit.edu	37	6	24145844	24145845	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:24145844_24145845insC	ENST00000378491.4	+	4	559_560	c.258_259insC	c.(256-261)gtccccfs	p.VP86fs		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	86					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GCTTTCTTGTGCCCCCCAAAAT	0.485													8	210	---	---	---	---					
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													18	968	---	---	---	---					
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:29627216_29627217insC	ENST00000376894.4	+	2	327_328	c.209_210insC	c.(208-210)cccfs	p.P70fs	MOG_ENST00000469603.1_3'UTR|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000490427.1_Intron|MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000483013.1_Intron|MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	70	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		p.F73fs*29(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGGTGGTACCGCCCCCCCTTCT	0.569													9	237	---	---	---	---					
BAG6	7917	broad.mit.edu	37	6	31608570	31608571	+	Splice_Site	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:31608570_31608571insG	ENST00000404765.2	-	21	3221_3222	c.2934_splice	c.e21+1	p.A978_splice	BAG6_ENST00000375964.6_Splice_Site_p.A948_splice|BAG6_ENST00000439687.2_Splice_Site_p.A816_splice|BAG6_ENST00000211379.5_Splice_Site_p.A942_splice|BAG6_ENST00000362049.6_Splice_Site_p.A942_splice|BAG6_ENST00000375976.4_Splice_Site_p.A942_splice			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	948					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GTCCCTTACCTGGGGGGGATCA	0.535													8	207	---	---	---	---					
C6orf25	80739	broad.mit.edu	37	6	31692528	31692529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:31692528_31692529insC	ENST00000375809.3	+	5	558_559	c.547_548insC	c.(547-549)cccfs	p.P183fs	C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000480039.1_Intron	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TTCAGCTCTGTCCCCCCCACAT	0.579													14	367	---	---	---	---					
HLA-DOA	3111	broad.mit.edu	37	6	32975278	32975279	+	Frame_Shift_Ins	INS	-	-	G	rs115076830	by1000genomes	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:32975278_32975279insG	ENST00000229829.5	-	3	497_498	c.422_423insC	c.(421-423)cgtfs	p.R141fs	HLA-DOA_ENST00000450833.2_Frame_Shift_Ins_p.R111fs|HLA-DOA_ENST00000495532.1_5'UTR	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	141	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						TATTGATCACAGGGGGGAAGAT	0.584													8	257	---	---	---	---					
UHRF1BP1	54887	broad.mit.edu	37	6	34791081	34791082	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:34791081_34791082insC	ENST00000192788.5	+	4	465_466	c.294_295insC	c.(292-297)cgccccfs	p.RP98fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.RP98fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	98										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGATCCTCGGCCCCCCAATGG	0.446													7	717	---	---	---	---					
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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				10	153	---	---	---	---					
C6orf222	389384	broad.mit.edu	37	6	36298220	36298221	+	Frame_Shift_Ins	INS	-	-	TCGGC			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:36298220_36298221insTCGGC	ENST00000437635.2	-	2	424_425	c.247_248insGCCGA	c.(247-249)tttfs	p.F83fs		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	83										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGGGAGAAAATCTCCGGTCTCC	0.614													8	240	---	---	---	---					
DNAH8	1769	broad.mit.edu	37	6	38875864	38875865	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:38875864_38875865insTG	ENST00000359357.3	+	62	9084_9085	c.8830_8831insTG	c.(8830-8832)gaafs	p.E2944fs	DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.E3161fs|DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.E2908fs					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGATCAAGGAAGAACTTACAT	0.356													11	63	---	---	---	---					
PTCRA	171558	broad.mit.edu	37	6	42893181	42893181	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:42893181delG	ENST00000304672.1	+	4	688	c.607delG	c.(607-609)ggfs	p.G204fs	PTCRA_ENST00000446507.1_Frame_Shift_Del_p.G97fs|PTCRA_ENST00000441198.1_Frame_Shift_Del_p.G179fs	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	204						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CACGGAGACTGGGGGACGAGA	0.746													2	4	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:55039410_55039411insC	ENST00000370862.3	+	1	361_362	c.25_26insC	c.(25-27)cccfs	p.P9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTGT	0.564													7	209	---	---	---	---					
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													13	609	---	---	---	---					
PTPRK	5796	broad.mit.edu	37	6	128319970	128319971	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:128319970_128319971insG	ENST00000368227.3	-	17	2975_2976	c.2609_2610insC	c.(2608-2610)ctafs	p.L870fs	PTPRK_ENST00000368207.3_Frame_Shift_Ins_p.L884fs|PTPRK_ENST00000368215.3_Frame_Shift_Ins_p.L857fs|PTPRK_ENST00000368213.5_Frame_Shift_Ins_p.L858fs|PTPRK_ENST00000368226.4_Frame_Shift_Ins_p.L858fs|PTPRK_ENST00000532331.1_Frame_Shift_Ins_p.L874fs|PTPRK_ENST00000368210.3_Frame_Shift_Ins_p.L870fs			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	857					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CTGTCTGGTAAGGGGATTCCGT	0.490													7	121	---	---	---	---					
TULP4	56995	broad.mit.edu	37	6	158900956	158900957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:158900956_158900957insC	ENST00000367097.3	+	7	2557_2558	c.1200_1201insC	c.(1198-1203)ctccccfs	p.LP400fs	TULP4_ENST00000367094.2_Frame_Shift_Ins_p.LP400fs	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	400	SOCS box.				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	p.R403fs*91(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AGCTGACTCTGCCCCCCCGCCT	0.644													8	134	---	---	---	---					
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													19	203	---	---	---	---					
DFNA5	1687	broad.mit.edu	37	7	24784270	24784271	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													9	319	---	---	---	---					
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-378)accfs	p.T126fs	FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_5'UTR	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446													16	268	---	---	---	---					
EPDR1	54749	broad.mit.edu	37	7	37988587	37988588	+	Frame_Shift_Ins	INS	-	-	T	rs145911941	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:37988587_37988588insT	ENST00000199448.4	+	2	794_795	c.415_416insT	c.(415-417)cggfs	p.R139fs	EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000476620.1_Frame_Shift_Ins_p.R37fs|EPDR1_ENST00000559325.1_Frame_Shift_Ins_p.R259fs|EPDR1_ENST00000425345.1_Frame_Shift_Ins_p.R78fs	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	139					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CCAGTACTCCATCGGGGGGCCT	0.510													8	537	---	---	---	---					
C7orf10	79783	broad.mit.edu	37	7	40899961	40899962	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:40899961_40899962insC	ENST00000309930.5	+	15	1323_1324	c.1299_1300insC	c.(1297-1302)ccccccfs	p.PP433fs	C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000335693.4_Frame_Shift_Ins_p.PP407fs|C7orf10_ENST00000401647.2_Frame_Shift_Ins_p.PP359fs	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	407							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						AGGCCAGGCCGCCCCCGCTGCT	0.569													7	671	---	---	---	---					
COBL	23242	broad.mit.edu	37	7	51287561	51287562	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:51287561_51287562insG	ENST00000395542.2	-	2	305_306	c.121_122insC	c.(121-123)cgafs	p.R41fs	COBL_ENST00000265136.7_Frame_Shift_Ins_p.R41fs|COBL_ENST00000441453.1_Frame_Shift_Ins_p.R41fs|COBL_ENST00000395540.2_Frame_Shift_Ins_p.R41fs			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	41										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGCCCCATCGTGGGGGGGCTTC	0.604													7	122	---	---	---	---					
ASL	435	broad.mit.edu	37	7	65557834	65557835	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:65557834_65557835delGC	ENST00000304874.9	+	17	1432_1433	c.1330_1331delGC	c.(1330-1332)gfs	p.A444fs	ASL_ENST00000395332.3_Frame_Shift_Del_p.A444fs|AC068533.7_ENST00000450043.1_Intron|ASL_ENST00000395331.3_Frame_Shift_Del_p.A424fs|ASL_ENST00000380839.4_Frame_Shift_Del_p.A418fs|ASL_ENST00000464970.1_3'UTR	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	444					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GGGCGGCACTGCGCGCTCCAGC	0.668													10	81	---	---	---	---					
AKAP9	10142	broad.mit.edu	37	7	91732038	91732039	+	Frame_Shift_Ins	INS	-	-	G	rs143306820		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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								17	279	---	---	---	---					
HEPACAM2	253012	broad.mit.edu	37	7	92838073	92838074	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:92838073_92838074insG	ENST00000394468.2	-	4	908_909	c.831_832insC	c.(829-834)ccacacfs	p.H278fs	HEPACAM2_ENST00000341723.4_Frame_Shift_Ins_p.H266fs|HEPACAM2_ENST00000453812.2_Frame_Shift_Ins_p.H301fs|HEPACAM2_ENST00000440868.1_Frame_Shift_Ins_p.H266fs	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	278	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GAGTAGGTGTTGGGGGGATGAG	0.431													7	309	---	---	---	---					
SPDYE3	441272	broad.mit.edu	37	7	99912173	99912174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:99912173_99912174insC	ENST00000332397.6	+	6	1185_1186	c.1001_1002insC	c.(1000-1002)accfs	p.T334fs	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	334										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTAGATCCCAGCCCCCCGCGTA	0.569													16	409	---	---	---	---					
FBXO24	26261	broad.mit.edu	37	7	100187685	100187686	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:100187685_100187686insC	ENST00000241071.6	+	2	447_448	c.125_126insC	c.(124-126)tccfs	p.S42fs	FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000465843.1_Frame_Shift_Ins_p.S42fs|FBXO24_ENST00000468962.1_Frame_Shift_Ins_p.S30fs|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Frame_Shift_Ins_p.S80fs|FBXO24_ENST00000360609.2_Frame_Shift_Ins_p.S42fs	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	42	F-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ATCCAGTTGTTCCCCCCAGAGC	0.569													8	445	---	---	---	---					
PCOLCE	5118	broad.mit.edu	37	7	100205413	100205414	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													8	216	---	---	---	---					
AP1S1	1174	broad.mit.edu	37	7	100802404	100802405	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													7	164	---	---	---	---					
EXOC4	60412	broad.mit.edu	37	7	133682284	133682285	+	Frame_Shift_Ins	INS	-	-	C	rs34608222	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:133682284_133682285insC	ENST00000253861.4	+	15	2275_2276	c.2246_2247insC	c.(2245-2247)cccfs	p.P749fs	EXOC4_ENST00000541309.1_Frame_Shift_Ins_p.P37fs|EXOC4_ENST00000539845.1_Frame_Shift_Ins_p.P648fs|EXOC4_ENST00000545148.1_Frame_Shift_Ins_p.P359fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	749					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AACACGGATCTCCCCCCAGTGT	0.460													8	250	---	---	---	---					
TRBV4-2	28616	broad.mit.edu	37	7	142045511	142045512	+	RNA	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:142045511_142045512insC	ENST00000390392.3	+	0	160																											TTTGTCCCTTTCCCCCCGCAGT	0.485													7	410	---	---	---	---					
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:142612493_142612494insC	ENST00000265310.1	-	10	1617_1618	c.1269_1270insG	c.(1267-1272)ggcattfs	p.I424fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	424					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACATGGAATGGCCCCCCAAGAA	0.505													7	668	---	---	---	---					
MYOM2	9172	broad.mit.edu	37	8	2088682	2088683	+	Frame_Shift_Ins	INS	-	-	G	rs34620424	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:2088682_2088683insG	ENST00000262113.4	+	33	3978_3979	c.3837_3838insG	c.(3835-3840)atggggfs	p.MG1279fs	MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.MG704fs	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1279					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATATGAGAATCGGGGGGAGTGA	0.446													7	583	---	---	---	---					
GATA4	2626	broad.mit.edu	37	8	11565860	11565861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:11565860_11565861insC	ENST00000335135.4	+	2	597_598	c.39_40insC	c.(37-42)ccccccfs	p.PP13fs	GATA4_ENST00000528712.1_Intron|GATA4_ENST00000532059.1_Frame_Shift_Ins_p.PP13fs	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	13					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		ACCACGGGCCGCCCCCCGGTGC	0.733													2	4	---	---	---	---					
FDFT1	2222	broad.mit.edu	37	8	11679330	11679332	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:11679330_11679332delCAT	ENST00000220584.4	+	4	675_677	c.453_455delCAT	c.(451-456)ggt>gg	p.GI151del	FDFT1_ENST00000525900.1_In_Frame_Del_p.GI144del|FDFT1_ENST00000538689.1_In_Frame_Del_p.GI40del|FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000528812.1_In_Frame_Del_p.GI87del|FDFT1_ENST00000530664.1_In_Frame_Del_p.GI87del|FDFT1_ENST00000528643.1_In_Frame_Del_p.GI66del|FDFT1_ENST00000443614.2_Intron|FDFT1_ENST00000525777.1_In_Frame_Del_p.GI66del	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	151					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		GGAGAATGGGCATTGGGATGGCA	0.429													7	304	---	---	---	---					
RHOBTB2	23221	broad.mit.edu	37	8	22865591	22865592	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:22865591_22865592insG	ENST00000251822.6	+	6	2124_2125	c.1587_1588insG	c.(1585-1590)ttggggfs	p.LG529fs	RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Frame_Shift_Ins_p.LG551fs|RHOBTB2_ENST00000522948.1_Frame_Shift_Ins_p.LG536fs	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	529	BTB 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CTGCCATGTTTGGGGGGCCATT	0.559													10	247	---	---	---	---					
ADRA1A	148	broad.mit.edu	37	8	26722382	26722383	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:26722382_26722383insC	ENST00000380573.3	-	2	1127_1128	c.104_105insG	c.(103-105)gctfs	p.A35fs	ADRA1A_ENST00000519229.1_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000380572.3_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000380581.2_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000380582.3_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000358857.5_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000354550.4_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000276393.4_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000380587.1_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000380586.1_Frame_Shift_Ins_p.A35fs			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	35					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	AAAGAATGAGGCCCCCCAAGAT	0.569													8	231	---	---	---	---					
POMK	84197	broad.mit.edu	37	8	42958728	42958729	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													9	196	---	---	---	---					
TMEM68	137695	broad.mit.edu	37	8	56675226	56675227	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:56675226_56675227insT	ENST00000434581.2	-	3	491_492	c.292_293insA	c.(292-294)tctfs	p.S98fs	TMEM68_ENST00000522576.1_Frame_Shift_Ins_p.S98fs|TMEM68_ENST00000523073.1_Intron|TMEM68_ENST00000521229.1_Frame_Shift_Ins_p.S98fs|TMEM68_ENST00000519784.1_Intron|TMEM68_ENST00000334667.2_Frame_Shift_Ins_p.S98fs			Q96MH6	TMM68_HUMAN	transmembrane protein 68	98						integral to membrane	acyltransferase activity			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			ATCCCACAGAGTTGCCACTGTT	0.401													251	362	---	---	---	---					
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													16	167	---	---	---	---					
ODF1	4956	broad.mit.edu	37	8	103572984	103572992	+	In_Frame_Del	DEL	TGCAGCCCC	TGCAGCCCC	-	rs3018444	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:103572984_103572992delTGCAGCCCC	ENST00000285402.3	+	2	781_789	c.625_633delTGCAGCCCC	c.(625-633)del	p.CSP215del	ODF1_ENST00000518835.1_Splice_Site_p.3_splice	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	215	C-X-P repeat region.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CACTTCTCCTtgcagcccctgcagcccct	0.584													12	80	---	---	---	---					
TG	7038	broad.mit.edu	37	8	133923643	133923657	+	In_Frame_Del	DEL	GTTTCCATTCCTGTC	GTTTCCATTCCTGTC	-	rs147183756		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:133923643_133923657delGTTTCCATTCCTGTC	ENST00000220616.4	+	19	4064_4078	c.4024_4038delGTTTCCATTCCTGTC	c.(4024-4038)del	p.VSIPV1342del	TG_ENST00000377869.1_In_Frame_Del_p.VSIPV1342del	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1342					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGGCACCCTGGTTTCCATTCCTGTCTGCAACAACT	0.488													171	434	---	---	---	---					
FREM1	158326	broad.mit.edu	37	9	14848680	14848681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:14848680_14848681insG	ENST00000380881.4	-	8	2061_2062	c.1246_1247insC	c.(1246-1248)tgtfs	p.C416fs	FREM1_ENST00000422223.2_Frame_Shift_Ins_p.C415fs|FREM1_ENST00000380880.3_Frame_Shift_Ins_p.C415fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	415					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCAGGATACACGGGGGGCATTT	0.426													7	133	---	---	---	---					
ADAMTSL1	92949	broad.mit.edu	37	9	18829842	18829843	+	Splice_Site	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:18829842_18829843insC	ENST00000380548.4	+	23	4455_4456	c.4114_splice	c.e23-1	p.DP1372_splice	ADAMTSL1_ENST00000380545.5_Splice_Site_p.DP73_splice	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1372						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTCTCACAGATCCCCCCCAAGT	0.564													9	170	---	---	---	---					
C9orf131	138724	broad.mit.edu	37	9	35045128	35045129	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:35045128_35045129insC	ENST00000312292.5	+	2	2549_2550	c.2502_2503insC	c.(2500-2505)taccccfs	p.YP834fs	C9orf131_ENST00000421362.2_Frame_Shift_Ins_p.YP786fs|C9orf131_ENST00000354479.5_Frame_Shift_Ins_p.YP761fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	834										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGCAGATTTATCCCCCCAATCC	0.540													14	1022	---	---	---	---					
GLIPR2	152007	broad.mit.edu	37	9	36147846	36147847	+	Frame_Shift_Ins	INS	-	-	C	rs60088684	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:36147846_36147847insC	ENST00000377960.4	+	2	111_112	c.77_78insC	c.(76-78)gccfs	p.A26fs	GLIPR2_ENST00000377959.1_Frame_Shift_Ins_p.A26fs|GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000474050.1_3'UTR	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	26						extracellular region|Golgi membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						AAGCACGGCGTCCCCCCACTGA	0.540													7	455	---	---	---	---					
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													14	219	---	---	---	---					
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:118982329_118982330insC	ENST00000328252.3	+	5	2401_2402	c.2032_2033insC	c.(2032-2034)cccfs	p.P678fs	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	678					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTTGCCCTCGCCCCCCAAGTT	0.574													13	321	---	---	---	---					
CRAT	1384	broad.mit.edu	37	9	131864813	131864814	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:131864813_131864814insC	ENST00000318080.2	-	5	789_790	c.495_496insG	c.(493-498)ggagccfs	p.A166fs	CRAT_ENST00000464290.1_5'UTR	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	166					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CACAGTGGCTTCCCCCCCAGGT	0.609													13	337	---	---	---	---					
GFI1B	8328	broad.mit.edu	37	9	135865199	135865200	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:135865199_135865200insGC	ENST00000339463.3	+	10	1538_1539	c.719_720insGC	c.(718-720)catfs	p.H240fs	GFI1B_ENST00000372124.1_Frame_Shift_Ins_p.H194fs|GFI1B_ENST00000372123.1_Frame_Shift_Ins_p.H194fs|GFI1B_ENST00000450530.1_Frame_Shift_Ins_p.H240fs|GFI1B_ENST00000372122.1_Frame_Shift_Ins_p.H240fs|GFI1B_ENST00000534944.1_Frame_Shift_Ins_p.H194fs			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	240	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		ACCCACCTGCTCATCCACTCAG	0.629													11	70	---	---	---	---					
ZMYND19	116225	broad.mit.edu	37	9	140481541	140481542	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:140481541_140481542insC	ENST00000298585.2	-	4	462_463	c.236_237insG	c.(235-237)ggtfs	p.G79fs	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	79						Golgi apparatus|plasma membrane	zinc ion binding	p.V80fs*34(2)		endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCGGGGCCACGCCCCCCCGGTG	0.634													11	242	---	---	---	---					
TAF3	83860	broad.mit.edu	37	10	8006928	8006929	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:8006928_8006929insC	ENST00000344293.5	+	3	1661_1662	c.1455_1456insC	c.(1453-1458)atccccfs	p.IP485fs		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	485					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTTCAAATATGCCCCCCAACTT	0.490													8	233	---	---	---	---					
PHYH	5264	broad.mit.edu	37	10	13325834	13325835	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													7	489	---	---	---	---					
ZEB1	6935	broad.mit.edu	37	10	31809832	31809833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:31809832_31809833insG	ENST00000446923.2	+	7	1912_1913	c.1521_1522insG	c.(1519-1524)gaggggfs	p.EG507fs	ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs	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	119	---	---	---	---					
NCOA4	8031	broad.mit.edu	37	10	51586311	51586312	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:51586311_51586312insC	ENST00000452682.1	+	10	2039_2040	c.1787_1788insC	c.(1786-1788)tccfs	p.S596fs	NCOA4_ENST00000414907.2_Frame_Shift_Ins_p.S414fs|NCOA4_ENST00000438493.1_Frame_Shift_Ins_p.S596fs|NCOA4_ENST00000430396.2_Frame_Shift_Ins_p.S480fs|NCOA4_ENST00000443446.1_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000374087.4_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000344348.6_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000374082.1_Frame_Shift_Ins_p.P535fs	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	580					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GAACATAACTTCCCCCCAGACC	0.416			T	RET	papillary thyroid								8	486	---	---	---	---					
PALD1	27143	broad.mit.edu	37	10	72292440	72292441	+	Frame_Shift_Ins	INS	-	-	G	rs145337663	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:72292440_72292441insG	ENST00000263563.6	+	6	965_966	c.697_698insG	c.(697-699)gggfs	p.G233fs		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		CGAGGACCTGTGGGGGGAGCCC	0.604													8	712	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1366_splice	c.e11-1	p.VP456_splice	SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	456					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.510													23	724	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75530787	75530788	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:75530787_75530788insG	ENST00000339365.2	+	24	3381_3382	c.3219_3220insG	c.(3217-3222)agggggfs	p.RG1073fs	SEC24C_ENST00000345254.4_Frame_Shift_Ins_p.RG1073fs|SEC24C_ENST00000411652.2_Frame_Shift_Ins_p.RG954fs|SEC24C_ENST00000535742.1_Frame_Shift_Ins_p.RG321fs|SEC24C_ENST00000540668.1_Frame_Shift_Ins_p.RG321fs	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	1073					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)					AGAGTCTGAGTGGGGGAGCATC	0.495													7	831	---	---	---	---					
ZSWIM8	23053	broad.mit.edu	37	10	75560463	75560464	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:75560463_75560464insC	ENST00000604729.1	+	24	5365_5366	c.5068_5069insC	c.(5068-5070)cccfs	p.P1690fs	ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.P1511fs|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000605216.1_Frame_Shift_Ins_p.P1693fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.P1652fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.P1698fs					zinc finger, SWIM-type containing 8																		CTTCTCCCGCTCCCCCCCCTAC	0.604													7	109	---	---	---	---					
PTEN	5728	broad.mit.edu	37	10	89692920	89692921	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:89692920_89692921insA	ENST00000371953.3	+	5	1761_1762	c.404_405insA	c.(403-405)atgfs	p.M135fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	135	Phosphatase tensin-type.		I -> V (in BZS).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.I135fs*44(3)|p.I135K(3)|p.I135fs*45(3)|p.Y27fs*1(2)|p.I135_A137>T(1)|p.I135del(1)|p.I135fs*6(1)|p.A121_F145del(1)|p.I135fs*12(1)|p.I135M(1)|p.T131fs*42(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGTGTAATGATATGTGCATATT	0.386		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			171	156	---	---	---	---					
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													13	715	---	---	---	---					
LINC00959	387723	broad.mit.edu	37	10	131905959	131905960	+	RNA	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:131905959_131905960insG	ENST00000456581.1	-	0	114																											CTTTGCCTCCAGGGGGGGAAGG	0.530													11	120	---	---	---	---					
OR52E4	390081	broad.mit.edu	37	11	5905552	5905553	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:5905552_5905553insC	ENST00000316987.2	+	1	52_53	c.30_31insC	c.(28-33)taccccfs	p.YP10fs		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCACTTCTATCCCCCCTTCTT	0.441													10	614	---	---	---	---					
E2F8	79733	broad.mit.edu	37	11	19251460	19251461	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:19251460_19251461insG	ENST00000527884.1	-	10	1665_1666	c.1433_1434insC	c.(1432-1434)cgtfs	p.R478fs	E2F8_ENST00000250024.4_Frame_Shift_Ins_p.R478fs|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	478					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGCATTCACTGGGGGGTCCAG	0.550													11	767	---	---	---	---					
PAX6	5080	broad.mit.edu	37	11	31812316	31812317	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:31812316_31812317insG	ENST00000419022.1	-	13	1634_1635	c.1166_1167insC	c.(1165-1167)ccafs	p.P389fs	PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379132.3_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	375	Pro/Ser/Thr-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGTA	0.589									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				9	130	---	---	---	---					
APIP	51074	broad.mit.edu	37	11	34904908	34904909	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:34904908_34904909insC	ENST00000395787.3	-	6	818_819	c.604_605insG	c.(604-606)aacfs	p.N202fs	APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Frame_Shift_Ins_p.N219fs	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	APAF1 interacting protein	202					apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CTCCCATGTTTCCCCCCACACA	0.450													7	785	---	---	---	---					
LRP4	4038	broad.mit.edu	37	11	46880747	46880748	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:46880747_46880748insC	ENST00000378623.1	-	38	5746_5747	c.5504_5505insG	c.(5503-5505)gctfs	p.A1835fs	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1835					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCCGGAGGAGGCCCCCCCGTGA	0.564													9	246	---	---	---	---					
C11orf49	79096	broad.mit.edu	37	11	47074000	47074001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:47074000_47074001insC	ENST00000395460.2	+	3	249_250	c.211_212insC	c.(211-213)cccfs	p.P71fs	C11orf49_ENST00000278460.7_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000378615.3_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000543718.1_Intron|C11orf49_ENST00000378618.2_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000527268.1_3'UTR	NM_001003676.1	NP_001003676.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	71										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						CGTCCAAGCCACCCCCCACAAT	0.441													12	475	---	---	---	---					
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:48328524_48328525insC	ENST00000319988.1	+	1	750_751	c.750_751insC	c.(748-753)atccccfs	p.IP250fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGTTCTCATGCCCCCCATGTT	0.480													9	953	---	---	---	---					
SLC43A3	29015	broad.mit.edu	37	11	57185234	57185235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:57185234_57185235insG	ENST00000395123.2	-	8	961_962	c.657_658insC	c.(655-660)ccactafs	p.L220fs	SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	220					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TAGCTGTAGTTGGGGGGCAGTG	0.564													8	268	---	---	---	---					
DDB1	1642	broad.mit.edu	37	11	61093159	61093160	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:61093159_61093160insC	ENST00000301764.7	-	6	1082_1083	c.685_686insG	c.(685-687)catfs	p.H229fs	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	229	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AATGATGATGGCCCCCCCAAAG	0.490								Nucleotide excision repair (NER)					9	69	---	---	---	---					
CPSF7	79869	broad.mit.edu	37	11	61183884	61183885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:61183884_61183885insG	ENST00000340437.4	-	6	866_867	c.786_787insC	c.(784-789)ccgtgtfs	p.C263fs	CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000394888.4_Frame_Shift_Ins_p.C220fs	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	220	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGCAGCACACTGGGGGGCTTAT	0.594													8	550	---	---	---	---					
RELA	5970	broad.mit.edu	37	11	65422045	65422046	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:65422045_65422046insG	ENST00000406246.3	-	11	1720_1721	c.1459_1460insC	c.(1459-1461)cacfs	p.H487fs	RELA_ENST00000525693.1_3'UTR|RELA_ENST00000308639.9_Frame_Shift_Ins_p.H484fs	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	487					anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						CTCAGTTGTGTGGGGGGCCACA	0.624													7	182	---	---	---	---					
RAB1B	81876	broad.mit.edu	37	11	66039887	66039888	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:66039887_66039888insG	ENST00000311481.6	+	4	382_383	c.235_236insG	c.(235-237)gggfs	p.G79fs	RAB1B_ENST00000527397.1_Intron|RP11-867G23.3_ENST00000501708.1_lincRNA	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	79	Switch 2 region; required for interaction with REP1/CHM.				protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CAGCTACTACCGGGGGGCTCAT	0.579													7	299	---	---	---	---					
CCS	9973	broad.mit.edu	37	11	66366957	66366958	+	Frame_Shift_Ins	INS	-	-	G	rs61731811	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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	125	---	---	---	---					
KRTAP5-10	387273	broad.mit.edu	37	11	71279907	71279936	+	Splice_Site	DEL	AGTCCAGCTGCTGCAGGTCCTGCTGCTCCA	AGTCCAGCTGCTGCAGGTCCTGCTGCTCCA	-	rs114510875	by1000genomes	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:71279907_71279936delAGTCCAGCTGCTGCAGGTCCTGCTGCTCCA	ENST00000376536.4	+	3	441_469	c.441_splice	c.e3-1	p.P147_splice				Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	195	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						tgctgctcccagtccagctgctgcaggtcctgctgctccaagtccagctg	0.570													7	137	---	---	---	---					
ARRB1	408	broad.mit.edu	37	11	74988494	74988495	+	Splice_Site	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:74988494_74988495insG	ENST00000420843.2	-	9	716		c.e9-2		ARRB1_ENST00000360025.3_Splice_Site|ARRB1_ENST00000393505.4_Splice_Site	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1						G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						GTAATAGATCTGGGGGGCATAA	0.550													9	448	---	---	---	---					
CLDN25	644672	broad.mit.edu	37	11	113650550	113650551	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:113650550_113650551insG	ENST00000453129.2	+	1	82_83	c.33_34insG	c.(31-36)ctggggfs	p.LG11fs		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	11						integral to membrane|tight junction	structural molecule activity	p.L14fs*24(1)		large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						AAGTCCAGCTCGGGGGGCTACT	0.550													7	191	---	---	---	---					
SIK3	23387	broad.mit.edu	37	11	116733010	116733011	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:116733010_116733011insC	ENST00000375300.1	-	16	1997_1998	c.1992_1993insG	c.(1990-1995)ggagatfs	p.D665fs	SIK3_ENST00000446921.2_Frame_Shift_Ins_p.D665fs|SIK3_ENST00000434315.2_Frame_Shift_Ins_p.D506fs|SIK3_ENST00000292055.4_Frame_Shift_Ins_p.D607fs|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375288.1_Frame_Shift_Ins_p.E38fs|SIK3_ENST00000542607.1_Frame_Shift_Ins_p.D607fs			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	607	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCATCAATCTGCCCCCCGTACA	0.500													13	492	---	---	---	---					
NLRX1	79671	broad.mit.edu	37	11	119050610	119050611	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:119050610_119050611insG	ENST00000409109.1	+	7	2467_2468	c.1880_1881insG	c.(1879-1881)aggfs	p.R627fs	NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000409991.1_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000409265.4_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000525863.1_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000292199.2_Frame_Shift_Ins_p.R627fs			Q86UT6	NLRX1_HUMAN	NLR family member X1	627	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCATGTTCATGGGGGGGCTTC	0.624													7	94	---	---	---	---					
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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	1012	---	---	---	---					
IGSF9B	22997	broad.mit.edu	37	11	133807826	133807827	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:133807826_133807827insG	ENST00000321016.8	-	4	669_670	c.439_440insC	c.(439-441)gtafs	p.V147fs	IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.V147fs			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	147	Ig-like 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCGATGTACTGGGGGGGTGTT	0.574													12	129	---	---	---	---					
NCAPD3	23310	broad.mit.edu	37	11	134048585	134048586	+	Frame_Shift_Ins	INS	-	-	G	rs138442478		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													9	204	---	---	---	---					
AKAP3	10566	broad.mit.edu	37	12	4736153	4736154	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:4736153_4736154insG	ENST00000545990.2	-	5	2438_2439	c.1914_1915insC	c.(1912-1917)ccggctfs	p.A639fs	AKAP3_ENST00000228850.1_Frame_Shift_Ins_p.A639fs	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	639					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCATATAGCCTGGGGGGAGAAG	0.540													7	245	---	---	---	---					
VWF	7450	broad.mit.edu	37	12	6091108	6091109	+	Frame_Shift_Ins	INS	-	-	G	rs61750632		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:6091108_6091109insG	ENST00000261405.5	-	42	7384_7385	c.7130_7131insC	c.(7129-7131)ccafs	p.P2377fs		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2377					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.P2377P(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCAAACGGTGCGGGGGGCAGGA	0.604													7	339	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6923985	6923986	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:6923985_6923986insC	ENST00000011653.4	+	5	692_693	c.434_435insC	c.(433-435)accfs	p.T145fs	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.T90fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	145	Ig-like C2-type 1.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				ACCTTGGAGAGCCCCCCTGGTA	0.579													9	1310	---	---	---	---					
ATN1	1822	broad.mit.edu	37	12	7045699	7045700	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:7045699_7045700insC	ENST00000356654.4	+	5	1506_1507	c.1269_1270insC	c.(1267-1272)caccccfs	p.HP423fs	ATN1_ENST00000396684.2_Frame_Shift_Ins_p.HP423fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	423					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TCTCCAATCAGCCCCCCAAGTA	0.614													7	282	---	---	---	---					
PRB1	5542	broad.mit.edu	37	12	11506884	11506885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:11506884_11506885insG	ENST00000500254.2	-	3	189_190	c.152_153insC	c.(151-153)cccfs	p.P51fs	PRB1_ENST00000545626.1_Frame_Shift_Ins_p.P51fs|PRB1_ENST00000546254.1_Frame_Shift_Ins_p.P51fs	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	234						extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTGGAGGAGGTGGGGGGCCCTG	0.579													9	1000	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													10	217	---	---	---	---					
DNM1L	10059	broad.mit.edu	37	12	32863894	32863894	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:32863894delT	ENST00000452533.2	+	5	565	c.401delT	c.(400-402)atfs	p.I134fs	DNM1L_ENST00000549701.1_Frame_Shift_Del_p.I134fs|DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000266481.6_Frame_Shift_Del_p.I134fs|DNM1L_ENST00000553257.1_Frame_Shift_Del_p.I147fs|DNM1L_ENST00000547312.1_Frame_Shift_Del_p.I134fs|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000358214.5_Frame_Shift_Del_p.I147fs|DNM1L_ENST00000381000.4_Frame_Shift_Del_p.I147fs	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	134	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CATCTTAAGATTTTTTCACCC	0.318													91	121	---	---	---	---					
PFKM	5213	broad.mit.edu	37	12	48537576	48537576	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:48537576delT	ENST00000340802.6	+	21	2296	c.2072delT	c.(2071-2073)ggfs	p.V691fs	PFKM_ENST00000551804.1_Frame_Shift_Del_p.V589fs|PFKM_ENST00000547587.1_Frame_Shift_Del_p.V620fs|PFKM_ENST00000312352.7_Frame_Shift_Del_p.V620fs|PFKM_ENST00000395233.2_Frame_Shift_Del_p.V589fs|PFKM_ENST00000359794.5_Frame_Shift_Del_p.V620fs	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	620					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						AAAACAACTGTGAAAAGGGGC	0.393													7	444	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49445525	49445526	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:49445525_49445526insG	ENST00000301067.7	-	10	1939_1940	c.1940_1941insC	c.(1939-1941)cccfs	p.P647fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ATACCTCAGGTGGGGGGGACAT	0.634													14	311	---	---	---	---					
KRT5	3852	broad.mit.edu	37	12	52910538	52910539	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:52910538_52910539delTT	ENST00000252242.4	-	7	1711_1712	c.1321_1322delAA	c.(1321-1323)gfs	p.K441fs		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	441	Coil 2.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGCTTGGCCTTCTGCAGGGCC	0.639													29	727	---	---	---	---					
KRT79	338785	broad.mit.edu	37	12	53215777	53215778	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:53215777_53215778insC	ENST00000330553.5	-	9	1520_1521	c.1486_1487insG	c.(1486-1488)cacfs	p.H496fs		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	496	Tail.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACCCTTGGTGGCCCCCCCACTC	0.619													8	135	---	---	---	---					
AAAS	8086	broad.mit.edu	37	12	53715141	53715142	+	Frame_Shift_Ins	INS	-	-	G	rs138043864		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:53715141_53715142insG	ENST00000209873.4	-	1	273_274	c.108_109insC	c.(106-111)ccacttfs	p.L37fs	AAAS_ENST00000550286.1_Intron|AAAS_ENST00000394384.3_Frame_Shift_Ins_p.L37fs|AAAS_ENST00000549983.1_Intron	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	37					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CCCCGGAAGTCGGGGGGCGGGC	0.653													7	249	---	---	---	---					
PCBP2	5094	broad.mit.edu	37	12	53856277	53856278	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:53856277_53856278insC	ENST00000603815.1	+	8	867_868	c.517_518insC	c.(517-519)cccfs	p.P173fs	RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000546463.1_Splice_Site_p.P169_splice|PCBP2_ENST00000455667.3_Splice_Site_p.P169_splice|PCBP2_ENST00000541275.1_Splice_Site_p.P169_splice|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000437231.1_Splice_Site_p.P169_splice|PCBP2_ENST00000552296.2_Splice_Site_p.P169_splice|PCBP2_ENST00000359282.5_Splice_Site_p.P169_splice|PCBP2_ENST00000439930.3_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.P173fs	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	173					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TCTCTCCCAGTCCCCCCCGAAG	0.500													12	220	---	---	---	---					
TARBP2	6895	broad.mit.edu	37	12	53898183	53898184	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:53898183_53898184insC	ENST00000266987.2	+	5	908_909	c.425_426insC	c.(424-426)accfs	p.T142fs	TARBP2_ENST00000394357.2_Frame_Shift_Ins_p.T121fs|TARBP2_ENST00000456234.2_Frame_Shift_Ins_p.T121fs|TARBP2_ENST00000552857.1_Frame_Shift_Ins_p.T51fs	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	142					miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						TCCTTCAGGAGCCCCCCCATGG	0.564													9	169	---	---	---	---					
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:55421127_55421128insC	ENST00000242994.3	+	2	1282_1283	c.904_905insC	c.(904-906)cccfs	p.P302fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	302					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAGGCTGGTACCCCCCGTTAT	0.465													11	2910	---	---	---	---					
DGKA	1606	broad.mit.edu	37	12	56347513	56347514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:56347513_56347514insC	ENST00000331886.5	+	24	2623_2624	c.2169_2170insC	c.(2167-2172)ccccccfs	p.PP723fs	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000394147.1_Frame_Shift_Ins_p.PP723fs	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	723					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCATGGGCCCACCCCCCCGCTC	0.579													14	256	---	---	---	---					
ERBB3	2065	broad.mit.edu	37	12	56490961	56490962	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:56490961_56490962insG	ENST00000267101.3	+	20	2847_2848	c.2407_2408insG	c.(2407-2409)gggfs	p.G803fs	ERBB3_ENST00000553131.1_Frame_Shift_Ins_p.G44fs|ERBB3_ENST00000450146.2_Frame_Shift_Ins_p.G160fs|ERBB3_ENST00000415288.2_Frame_Shift_Ins_p.G744fs	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	803	Protein kinase.				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GAGACAACACCGGGGGGCACTG	0.540													10	226	---	---	---	---					
NACA	4666	broad.mit.edu	37	12	57114417	57114418	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:57114417_57114418insG	ENST00000454682.1	-	3	1177_1178	c.896_897insC	c.(895-897)cgafs	p.R299fs	NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Frame_Shift_Ins_p.R299fs|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGAAAATCTGGGGGGGTGTT	0.490			T	BCL6	NHL								9	77	---	---	---	---					
STAT6	6778	broad.mit.edu	37	12	57499093	57499094	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:57499093_57499094insG	ENST00000300134.3	-	9	1166_1167	c.841_842insC	c.(841-843)ggtfs	p.G281fs	STAT6_ENST00000543873.2_Frame_Shift_Ins_p.G281fs|STAT6_ENST00000538913.2_Frame_Shift_Ins_p.G171fs|STAT6_ENST00000537215.2_Frame_Shift_Ins_p.G171fs|STAT6_ENST00000454075.3_Frame_Shift_Ins_p.G281fs|STAT6_ENST00000556155.1_Frame_Shift_Ins_p.G281fs	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	281					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CTTCAGTACCTGGGGGGGCTGC	0.639													10	161	---	---	---	---					
R3HDM2	22864	broad.mit.edu	37	12	57662753	57662754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:57662753_57662754insC	ENST00000402412.1	-	17	2216_2217	c.1826_1827insG	c.(1825-1827)gcafs	p.A609fs	R3HDM2_ENST00000441731.2_Frame_Shift_Ins_p.A290fs|R3HDM2_ENST00000403821.2_Frame_Shift_Ins_p.A629fs|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000413953.2_Frame_Shift_Ins_p.A322fs|R3HDM2_ENST00000358907.2_Frame_Shift_Ins_p.A595fs|R3HDM2_ENST00000347140.3_Frame_Shift_Ins_p.A595fs|R3HDM2_ENST00000393811.2_Frame_Shift_Ins_p.A322fs			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	595	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CTTGCATCTGGCCCCCCATGCT	0.579													9	624	---	---	---	---					
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													83	1078	---	---	---	---					
DCTN2	10540	broad.mit.edu	37	12	57927805	57927806	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:57927805_57927806insG	ENST00000548249.1	-	7	866_867	c.599_600insC	c.(598-600)cgafs	p.R200fs	DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.R177fs	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	200					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						GGCTGCTATCTGGGGGGGTCCC	0.500													7	168	---	---	---	---					
CDK4	1019	broad.mit.edu	37	12	58143030	58143031	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:58143030_58143031insG	ENST00000257904.6	-	7	1118_1119	c.753_754insC	c.(751-756)ccgaggfs	p.R252fs	CDK4_ENST00000540325.1_Frame_Shift_Ins_p.R132fs|CDK4_ENST00000312990.6_3'UTR|TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000549606.1_5'UTR|CDK4_ENST00000551888.1_5'UTR	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	252	Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CGGGGCCCTCTGGGGGGAAAGG	0.624			Mis			melanoma			Hereditary Melanoma				8	229	---	---	---	---					
METTL21B	25895	broad.mit.edu	37	12	58174036	58174037	+	Splice_Site	INS	-	-	G	rs143311691		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:58174036_58174037insG	ENST00000333012.5	+	4	475		c.e4-1		METTL21B_ENST00000300209.8_Splice_Site|RP11-571M6.15_ENST00000471530.1_Intron|METTL21B_ENST00000548256.1_Splice_Site|METTL21B_ENST00000551420.1_Splice_Site|RP11-571M6.15_ENST00000553083.1_Intron	NM_206914.1	NP_996797.1	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							integral to membrane|intracellular	methyltransferase activity			endometrium(1)|lung(1)	2						CCTCTCTCTCAGGGGGGGATGT	0.584													12	447	---	---	---	---					
CAND1	55832	broad.mit.edu	37	12	67699691	67699692	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:67699691_67699692insG	ENST00000545606.1	+	10	2680_2681	c.2243_2244insG	c.(2242-2244)cggfs	p.R748fs		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	748					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CCCTTATTGCAGGGGGGAGCTC	0.426													7	308	---	---	---	---					
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1194)cccfs	p.P398fs	NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAGC	0.495										HNSCC(70;0.22)			12	336	---	---	---	---					
HSPA8P14	642580	broad.mit.edu	37	12	111821822	111821823	+	RNA	INS	-	-	A	rs113919722		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:111821822_111821823insA	ENST00000552663.1	+	0	141																											gactccgtctcaaaaaaaaaaa	0.505													2	4	---	---	---	---					
BRAP	8315	broad.mit.edu	37	12	112082051	112082052	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:112082051_112082052insC	ENST00000419234.4	-	12	1923_1924	c.1730_1731insG	c.(1729-1731)gagfs	p.E577fs	BRAP_ENST00000327551.6_Frame_Shift_Ins_p.E547fs|BRAP_ENST00000539060.1_Frame_Shift_Ins_p.E398fs	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	577					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						ACTTCCCACTGCCCCCCGAAGA	0.604													8	208	---	---	---	---					
ACAD10	80724	broad.mit.edu	37	12	112130538	112130539	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:112130538_112130539insC	ENST00000455480.2	+	2	202_203	c.25_26insC	c.(25-27)cccfs	p.P9fs	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000549590.1_Frame_Shift_Ins_p.P9fs|ACAD10_ENST00000313698.4_Frame_Shift_Ins_p.P9fs	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	9							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	p.S9F(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CTGTTTCCAGTCCCCCCGTCTC	0.619													11	647	---	---	---	---					
HECTD4	283450	broad.mit.edu	37	12	112600859	112600860	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:112600859_112600860insG	ENST00000550722.1	-	75	13063_13064	c.12668_12669insC	c.(12667-12669)cgafs	p.R4223fs	HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.R3947fs|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.R4197fs	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CTGTGCCATCTGGGGGGGCGAT	0.629													18	311	---	---	---	---					
HECTD4	283450	broad.mit.edu	37	12	112690348	112690349	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:112690348_112690349insG	ENST00000430131.2	-	22	3310_3311	c.2165_2166insC	c.(2164-2166)ctcfs	p.L722fs	HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.L972fs|HECTD4_ENST00000550722.1_Intron					HECT domain containing E3 ubiquitin protein ligase 4																		AATTTAAGGAAGGGGGGGAAAT	0.396													7	169	---	---	---	---					
RASAL1	8437	broad.mit.edu	37	12	113565942	113565943	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:113565942_113565943insC	ENST00000546530.1	-	4	448_449	c.163_164insG	c.(163-165)ggafs	p.G55fs	RASAL1_ENST00000446861.3_Frame_Shift_Ins_p.G55fs|RASAL1_ENST00000548055.1_Frame_Shift_Ins_p.G55fs|RASAL1_ENST00000261729.5_Frame_Shift_Ins_p.G55fs|RASAL1_ENST00000418411.2_5'UTR	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	55	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CGTGTACTCCTCCCCCCAGAAG	0.614													13	1303	---	---	---	---					
SLC8B1	80024	broad.mit.edu	37	12	113758305	113758306	+	Splice_Site	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:113758305_113758306insG	ENST00000552014.1	-	8	1042		c.e8-2		SLC24A6_ENST00000546737.1_Intron|SLC24A6_ENST00000202831.3_Splice_Site|SLC24A6_ENST00000553238.1_Intron			Q6J4K2	NCKX6_HUMAN							response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CGCCAGCGCCTGGGGGGAGGAG	0.644													21	1091	---	---	---	---					
TBX5	6910	broad.mit.edu	37	12	114793735	114793736	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:114793735_114793736insG	ENST00000310346.4	-	9	1824_1825	c.1158_1159insC	c.(1156-1161)ccgcgafs	p.R387fs	TBX5_ENST00000405440.2_Frame_Shift_Ins_p.R387fs|TBX5_ENST00000349716.5_Frame_Shift_Ins_p.R337fs	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	387					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		ACAGGCTCGCTGGGGGGCGCAG	0.629													8	375	---	---	---	---					
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													22	400	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132466645	132466646	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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_ENST00000389561.2_Frame_Shift_Ins_p.IP517fs|EP400_ENST00000389562.2_Frame_Shift_Ins_p.IP516fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.IP480fs			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													8	622	---	---	---	---					
POLE	5426	broad.mit.edu	37	12	133245023	133245024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:133245023_133245024insG	ENST00000320574.5	-	19	2134_2135	c.2091_2092insC	c.(2089-2094)cctgttfs	p.V698fs	POLE_ENST00000535270.1_Frame_Shift_Ins_p.V671fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	698					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCTGGGAACAAGGGGGGGAACT	0.599								DNA polymerases (catalytic subunits)					13	354	---	---	---	---					
ATP12A	479	broad.mit.edu	37	13	25262563	25262564	+	Frame_Shift_Ins	INS	-	-	G	rs35191129		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr13:25262563_25262564insG	ENST00000218548.6	+	4	668_669	c.335_336insG	c.(334-336)gggfs	p.G112fs	ATP12A_ENST00000381946.3_Frame_Shift_Ins_p.G112fs	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	112					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.V112V(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AAGCAGATGGTGGGGGGGTTCT	0.584													71	1352	---	---	---	---					
LMO7	4008	broad.mit.edu	37	13	76375005	76375006	+	Frame_Shift_Ins	INS	-	-	G	rs74596180	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr13:76375005_76375006insG	ENST00000357063.3	+	8	2064_2065	c.804_805insG	c.(802-807)agggggfs	p.RG268fs	LMO7_ENST00000341547.4_Frame_Shift_Ins_p.RG268fs|LMO7_ENST00000526202.1_Frame_Shift_Ins_p.RG177fs|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000377534.3_Frame_Shift_Ins_p.RG268fs|LMO7_ENST00000465261.2_5'UTR			Q8WWI1	LMO7_HUMAN	LIM domain 7	268						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TCACGTTGAGAGGGGGGCGTGA	0.450													9	589	---	---	---	---					
STK24	8428	broad.mit.edu	37	13	99114124	99114125	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr13:99114124_99114125insC	ENST00000397517.2	-	8	1032_1033	c.956_957insG	c.(955-957)gagfs	p.E319fs	STK24_ENST00000376547.3_Frame_Shift_Ins_p.E331fs|STK24_ENST00000539966.1_Frame_Shift_Ins_p.E300fs	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	331					cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CAGAATCACTGCCCCCCGAGGC	0.535													7	165	---	---	---	---					
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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	329	---	---	---	---					
NYNRIN	57523	broad.mit.edu	37	14	24884962	24884963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:24884962_24884963insC	ENST00000382554.3	+	9	4325_4326	c.4007_4008insC	c.(4006-4008)accfs	p.T1336fs		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1336					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TCGCCCACCAGCCCCCCTGTCT	0.614													7	397	---	---	---	---					
PRKCH	5583	broad.mit.edu	37	14	61952228	61952229	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:61952228_61952229insT	ENST00000332981.5	+	10	1672_1673	c.1287_1288insT	c.(1285-1290)ctttttfs	p.LF429fs	PRKCH_ENST00000555082.1_Frame_Shift_Ins_p.LF268fs	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	429	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		AGGATCGTCTGTTTTTTGTGAT	0.460													8	1124	---	---	---	---					
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:63174302_63174303insG	ENST00000322893.7	-	11	3158_3159	c.2890_2891insC	c.(2890-2892)gatfs	p.D964fs	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	964					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATGGTATCTGGGGGGGTACT	0.391													18	177	---	---	---	---					
ELMSAN1	91748	broad.mit.edu	37	14	74206605	74206606	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:74206605_74206606insG	ENST00000286523.5	-	2	888_889	c.106_107insC	c.(106-108)gcafs	p.A36fs	ELMSAN1_ENST00000394071.2_Frame_Shift_Ins_p.A36fs	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		GATGGACTGCTGGGGGGGCTGC	0.668													7	101	---	---	---	---					
SERPINA1	5265	broad.mit.edu	37	14	94844884	94844885	+	Frame_Shift_Ins	INS	-	-	G	rs143329723	by1000genomes	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:94844884_94844885insG	ENST00000448921.1	-	7	1730_1731	c.1158_1159insC	c.(1156-1161)ccaggtfs	p.G387fs	SERPINA1_ENST00000355814.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000393088.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000440909.1_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000393087.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000437397.1_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000449399.3_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000404814.4_Frame_Shift_Ins_p.G387fs	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	387	RCL.		E -> K (in Christchurch).		acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	AACTTGACCTCGGGGGGGATAG	0.490													8	151	---	---	---	---					
SNORD114-7	767583	broad.mit.edu	37	14	101429467	101429468	+	RNA	INS	-	-	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:101429467_101429468insA	ENST00000423708.3	+	0	736				SNORD114-7_ENST00000362520.1_RNA																							CTGAGGTTAGTACCTAGACAGA	0.381													34	26	---	---	---	---					
EXOC3L4	91828	broad.mit.edu	37	14	103570352	103570352	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:103570352delG	ENST00000380069.3	+	3	1200	c.1124delG	c.(1123-1125)tgfs	p.W375fs		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	375										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CCGGACGTGTGGGCCCGACTG	0.761													2	4	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25310192	25310193	+	RNA	INS	-	-	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:25310192_25310193insA	ENST00000549804.2	+	0	538				SNORD116-6_ENST00000384711.1_RNA|SNHG14_ENST00000551077.1_RNA																							ATGAGTCCTCCAAAAAAAACAT	0.475													7	393	---	---	---	---					
TRPM1	4308	broad.mit.edu	37	15	31362390	31362391	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:31362390_31362391insG	ENST00000542188.1	-	3	486_487	c.173_174insC	c.(172-174)cctfs	p.P58fs	TRPM1_ENST00000397795.2_Frame_Shift_Ins_p.P19fs|TRPM1_ENST00000559179.1_Frame_Shift_Ins_p.P19fs|TRPM1_ENST00000256552.6_Frame_Shift_Ins_p.P41fs	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	19					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CACTTGGCAGAGGGGGGATATG	0.505													11	1060	---	---	---	---					
RYR3	6263	broad.mit.edu	37	15	34078053	34078054	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:34078053_34078054insC	ENST00000389232.4	+	66	9529_9530	c.9459_9460insC	c.(9457-9462)ctccccfs	p.LP3153fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.LP3153fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3153					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGAGAACCTGCCCCCCAGCAC	0.564													7	593	---	---	---	---					
RASGRP1	10125	broad.mit.edu	37	15	38852203	38852203	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:38852203delT	ENST00000310803.5	-	2	216	c.39delA	c.(37-39)aafs	p.K13fs	RASGRP1_ENST00000558164.1_Frame_Shift_Del_p.K13fs|RASGRP1_ENST00000450598.2_Frame_Shift_Del_p.K13fs|RASGRP1_ENST00000559830.1_Frame_Shift_Del_p.K13fs|RASGRP1_ENST00000539159.1_5'UTR|RASGRP1_ENST00000561180.1_Frame_Shift_Del_p.K64fs	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	13					cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CATGGGAAGGTTTCCTGGGGA	0.552													19	23	---	---	---	---					
C15orf52	388115	broad.mit.edu	37	15	40630771	40630772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:40630771_40630772insG	ENST00000559313.1	-	5	624_625	c.609_610insC	c.(607-612)cccgcafs	p.A204fs		NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	204										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCCACCTGCGTGGGGGGGCTTC	0.584											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	324	---	---	---	---					
EHD4	30844	broad.mit.edu	37	15	42192889	42192890	+	Frame_Shift_Ins	INS	-	-	G	rs145578237		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:42192889_42192890insG	ENST00000220325.4	-	6	1662_1663	c.1579_1580insC	c.(1579-1581)cctfs	p.P527fs		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	527	EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		GGGCACGAGGTGGGGGGGCAGG	0.673													7	61	---	---	---	---					
TTBK2	146057	broad.mit.edu	37	15	43044816	43044817	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:43044816_43044817insT	ENST00000267890.6	-	14	2735_2736	c.2627_2628insA	c.(2626-2628)aaafs	p.K876fs		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	876					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TAGATATCTTATTTTTTTGCAT	0.406													7	419	---	---	---	---					
SECISBP2L	9728	broad.mit.edu	37	15	49292068	49292069	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:49292068_49292069insT	ENST00000559471.1	-	16	2627_2628	c.2364_2365insA	c.(2362-2367)ccttagfs	p.*789fs	SECISBP2L_ENST00000261847.3_Frame_Shift_Ins_p.*744fs	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	789										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						ACTACGCTAACAGGAACCAGCT	0.450													159	341	---	---	---	---					
LEO1	123169	broad.mit.edu	37	15	52258031	52258033	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:52258031_52258033delCAT	ENST00000299601.5	-	2	787_789	c.727_729delATG	c.(727-729)del	p.M243del	LEO1_ENST00000315141.5_In_Frame_Del_p.M243del	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	243	Asp-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		CAGAATTTTGCATTTTCTCTTCA	0.399													17	1245	---	---	---	---					
ZNF609	23060	broad.mit.edu	37	15	64973566	64973567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:64973566_64973567insC	ENST00000326648.3	+	8	4349_4350	c.4221_4222insC	c.(4219-4224)ccccccfs	p.PP1407fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1407						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACTCTACCCACCCCCCAGGAG	0.470											OREG0023182	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	697	---	---	---	---					
FAH	2184	broad.mit.edu	37	15	80464492	80464493	+	Splice_Site	INS	-	-	T	rs76497285		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:80464492_80464493insT	ENST00000539156.1	+	7	2636_2637	c.396_splice	c.e7-1	p.V133_splice	FAH_ENST00000407106.1_Splice_Site_p.V203_splice|FAH_ENST00000261755.5_Splice_Site_p.V203_splice|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000561421.1_Splice_Site_p.V203_splice			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	203					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCATGTAAGGCTTTTTTTGTAG	0.495									Tyrosinemia, type 1				7	382	---	---	---	---					
IDH2	3418	broad.mit.edu	37	15	90631917	90631918	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:90631917_90631918insC	ENST00000330062.3	-	4	548_549	c.435_436insG	c.(433-438)ggctgtfs	p.C146fs	IDH2_ENST00000540499.2_Frame_Shift_Ins_p.C94fs|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Frame_Shift_Ins_p.C16fs	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	146					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CGGAAGACAGTCCCCCCCAGGA	0.564			M		GBM								7	149	---	---	---	---					
CHSY1	22856	broad.mit.edu	37	15	101775436	101775437	+	Frame_Shift_Ins	INS	-	-	C	rs74545602	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:101775436_101775437insC	ENST00000254190.3	-	2	1141_1142	c.666_667insG	c.(664-669)ggctggfs	p.W223fs		NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	223					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATCACGCCAGGCCCCCCCATGC	0.614													9	117	---	---	---	---					
IL9RP3	729486	broad.mit.edu	37	16	81765	81766	+	RNA	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:81765_81766insC	ENST00000568710.1	-	0	434																											GGCAACCCCTGCCCCCCATGTC	0.564													7	426	---	---	---	---					
SRRM2	23524	broad.mit.edu	37	16	2815060	2815061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													11	851	---	---	---	---					
EMP2	2013	broad.mit.edu	37	16	10637490	10637491	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:10637490_10637491insA	ENST00000359543.3	-	3	314_315	c.105_106insT	c.(103-108)ttcagafs	p.R36fs	EMP2_ENST00000536829.1_Frame_Shift_Ins_p.R36fs	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2	36					cell proliferation	integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						CAGACATCTGCAAAAAACTCAT	0.441													7	833	---	---	---	---					
CIITA	4261	broad.mit.edu	37	16	10995899	10995900	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:10995899_10995900insC	ENST00000324288.8	+	7	619_620	c.486_487insC	c.(484-489)gaccccfs	p.DP162fs	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	162					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCACAGCTGAGCCCCCCACTGT	0.634			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								8	579	---	---	---	---					
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													21	903	---	---	---	---					
ACSM5	54988	broad.mit.edu	37	16	20429493	20429494	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:20429493_20429494insG	ENST00000331849.4	+	3	464_465	c.317_318insG	c.(316-318)cggfs	p.R106fs	ACSM5_ENST00000575584.1_Frame_Shift_Ins_p.R106fs	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	106					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.L106L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GCCAATGTGCTGGGGGGTGCAT	0.619													7	211	---	---	---	---					
ACSM1	116285	broad.mit.edu	37	16	20673158	20673159	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:20673158_20673159insC	ENST00000307493.4	-	6	1016_1017	c.949_950insG	c.(949-951)atcfs	p.I317fs	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Frame_Shift_Ins_p.I317fs	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	317					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TATAGATGATACCCCCCAAAAG	0.356													11	328	---	---	---	---					
DNAH3	55567	broad.mit.edu	37	16	20976647	20976648	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:20976647_20976648insG	ENST00000261383.3	-	53	8557_8558	c.8558_8559insC	c.(8557-8559)cctfs	p.P2853fs	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2853	Stalk (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)		TCATGGTCAGTGGGGGGATGTT	0.460													12	700	---	---	---	---					
RRN3P1	730092	broad.mit.edu	37	16	21814059	21814060	+	RNA	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:21814059_21814060insG	ENST00000546471.1	-	0	1607																											CCTATAACAAAGGGGGGGGAAA	0.381													8	70	---	---	---	---					
HS3ST2	9956	broad.mit.edu	37	16	22926721	22926722	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:22926721_22926722insA	ENST00000261374.3	+	2	1376_1377	c.942_943insA	c.(940-945)ttaaaafs	p.LK314fs		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	314						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TCCCTTGCTTGAAAAAAACAGA	0.485													9	850	---	---	---	---					
TNRC6A	27327	broad.mit.edu	37	16	24802365	24802366	+	Frame_Shift_Ins	INS	-	-	G	rs139212478	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:24802365_24802366insG	ENST00000395799.3	+	6	2531_2532	c.2402_2403insG	c.(2401-2403)cggfs	p.R801fs	TNRC6A_ENST00000315183.7_Frame_Shift_Ins_p.R801fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	801	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCAAACTGCCAGGGGGGGTGGG	0.510													9	101	---	---	---	---					
GTF3C1	2975	broad.mit.edu	37	16	27499709	27499710	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:27499709_27499710insC	ENST00000356183.4	-	23	3553_3554	c.3538_3539insG	c.(3538-3540)agcfs	p.S1180fs	GTF3C1_ENST00000561623.1_Frame_Shift_Ins_p.S1180fs	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1180						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TACTCTTGCTTCCCCCCAAATA	0.550													7	249	---	---	---	---					
NPIPB11	728888	broad.mit.edu	37	16	29395346	29395346	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:29395346delT	ENST00000524087.1	-	8	981	c.907delA	c.(907-909)cafs	p.T303fs	SNX29P2_ENST00000398878.3_lincRNA					nuclear pore complex interacting protein family, member B11																		TCGGGAGGTGTCTTGAGATTA	0.572													17	67	---	---	---	---					
SEZ6L2	26470	broad.mit.edu	37	16	29891248	29891249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:29891248_29891249insG	ENST00000308713.5	-	9	2036_2037	c.1509_1510insC	c.(1507-1512)ccatgcfs	p.C504fs	SEZ6L2_ENST00000346932.5_Frame_Shift_Ins_p.C390fs|SEZ6L2_ENST00000537485.1_Frame_Shift_Ins_p.C460fs|SEZ6L2_ENST00000350527.3_Frame_Shift_Ins_p.C434fs	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	504	Sushi 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCGATGGCATTGGGGGGCCCAG	0.604													12	747	---	---	---	---					
SRCAP	10847	broad.mit.edu	37	16	30715515	30715516	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:30715515_30715516insC	ENST00000262518.4	+	4	570_571	c.185_186insC	c.(184-186)gccfs	p.A62fs	SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.A62fs|SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.A62fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	62					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)			GGACCTCCAGGCCCCCCAGATG	0.624													7	215	---	---	---	---					
C16orf87	388272	broad.mit.edu	37	16	46843530	46843531	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:46843530_46843531insT	ENST00000285697.4	-	3	591_592	c.330_331insA	c.(328-333)aaatgafs	p.*111fs	C16orf87_ENST00000564250.1_5'UTR|C16orf87_ENST00000394806.2_Intron	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	111										large_intestine(4)|urinary_tract(1)	5						TCTTCCTCATGTTTTTTGGCAG	0.351													10	740	---	---	---	---					
KIAA0895L	653319	broad.mit.edu	37	16	67213789	67213790	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:67213789_67213790insC	ENST00000290881.7	-	4	1568_1569	c.642_643insG	c.(640-645)ggagctfs	p.A215fs	KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Frame_Shift_Ins_p.A215fs|KIAA0895L_ENST00000561621.1_Frame_Shift_Ins_p.A215fs			Q68EN5	K895L_HUMAN	KIAA0895-like	215										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GTGAGCAGCTGCCCCCCAGTGG	0.569													8	188	---	---	---	---					
KCTD19	146212	broad.mit.edu	37	16	67325657	67325658	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:67325657_67325658insG	ENST00000304372.5	-	13	2356_2357	c.2301_2302insC	c.(2299-2304)cctggtfs	p.G768fs		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	768						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTGCCCACCACGGGGGGGTGAG	0.574													14	161	---	---	---	---					
NPIPB15	440348	broad.mit.edu	37	16	74423894	74423895	+	Splice_Site	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:74423894_74423895insC	ENST00000429990.1	+	6	704_705	c.606_splice	c.e6-1	p.T203_splice						nuclear pore complex interacting protein family, member B15																		CTTTTTCAGATCCCCCCTTCTG	0.455													7	1340	---	---	---	---					
RFWD3	55159	broad.mit.edu	37	16	74660348	74660349	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:74660348_74660349insA	ENST00000361070.4	-	12	2170_2171	c.2073_2074insT	c.(2071-2076)ttgaggfs	p.LR691fs	RFWD3_ENST00000571750.1_Frame_Shift_Ins_p.LR691fs	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	691					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GTAGGTCCTCCAAAAAATGTAT	0.450													9	603	---	---	---	---					
FA2H	79152	broad.mit.edu	37	16	74752942	74752943	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:74752942_74752943insG	ENST00000219368.3	-	5	798_799	c.729_730insC	c.(727-732)ccgcgafs	p.R244fs	FA2H_ENST00000544337.1_Frame_Shift_Ins_p.R31fs	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	244					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TAGCTGTCGCTGGGGGGCTTCA	0.614													8	451	---	---	---	---					
PAFAH1B1	5048	broad.mit.edu	37	17	2583499	2583500	+	Frame_Shift_Ins	INS	-	-	G	rs113994201		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:2583499_2583500insG	ENST00000397195.5	+	10	1495_1496	c.1044_1045insG	c.(1042-1047)tcggggfs	p.SG348fs	PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.SG143fs|PAFAH1B1_ENST00000397193.3_3'UTR	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	348	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TGTTCCATTCTGGGGGGAAGTT	0.401													8	614	---	---	---	---					
ATP2A3	489	broad.mit.edu	37	17	3844781	3844782	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:3844781_3844782insG	ENST00000309890.7	-	13	1862_1863	c.1712_1713insC	c.(1711-1713)cagfs	p.Q571fs	ATP2A3_ENST00000397035.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000352011.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000359983.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000397043.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000397041.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000397039.1_5'UTR	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	571					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCTCCTTCCTTGGGGGCGCGTC	0.649													16	180	---	---	---	---					
ZMYND15	84225	broad.mit.edu	37	17	4647723	4647724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:4647723_4647724insC	ENST00000433935.1	+	10	1701_1702	c.1644_1645insC	c.(1642-1647)ctccccfs	p.LP548fs	ZMYND15_ENST00000573751.2_Frame_Shift_Ins_p.LP548fs|ZMYND15_ENST00000269289.6_Frame_Shift_Ins_p.LP509fs|ZMYND15_ENST00000592813.1_Frame_Shift_Ins_p.LP509fs	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	509							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GTGATGGCCTGCCCCCCGAAAG	0.594													7	181	---	---	---	---					
CAMTA2	23125	broad.mit.edu	37	17	4884523	4884524	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:4884523_4884524insC	ENST00000361571.5	-	7	1104_1105	c.693_694insG	c.(691-696)ggttggfs	p.W232fs	CAMTA2_ENST00000348066.3_Frame_Shift_Ins_p.W233fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.W235fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.W233fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.W256fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.W238fs	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	233					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AACTTACCAAGCCCCCCACTGC	0.550											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	508	---	---	---	---					
YBX2	51087	broad.mit.edu	37	17	7193636	7193637	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:7193636_7193637insG	ENST00000007699.5	-	5	740_741	c.677_678insC	c.(676-678)cccfs	p.P226fs		NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	226	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						AGAAGAAGGGTGGGGGGCACCA	0.658													8	218	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578396	7578397	+	Frame_Shift_Ins	INS	-	-	T	rs68130327		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:7578396_7578397insT	ENST00000420246.2	-	5	665_666	c.533_534insA	c.(532-534)ccafs	p.P178fs	TP53_ENST00000455263.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.P178fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Frame_Shift_Ins_p.P178fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	178	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma).|H -> L (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P177_C182delPHHERC(8)|p.H179Y(8)|p.0?(8)|p.H178P(6)|p.H178Q(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.H178fs*3(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.H178H(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.R175_H178>X(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H178L(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGCGCTCATGGTGGGGGCAGCG	0.644		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			113	83	---	---	---	---					
UBBP4	23666	broad.mit.edu	37	17	21731033	21731034	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:21731033_21731034insC	ENST00000584755.1	+	2	732_733	c.335_336insC	c.(334-336)accfs	p.T112fs	UBBP4_ENST00000578713.1_Frame_Shift_Ins_p.T112fs|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						AAAGAAGGCATCCCCCCCGACC	0.540													7	99	---	---	---	---					
RAB11FIP4	84440	broad.mit.edu	37	17	29758897	29758898	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:29758897_29758898insG	ENST00000325874.8	+	2	455_456	c.226_227insG	c.(226-228)gggfs	p.G76fs		NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	76	EF-hand.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	p.?(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GGACTTTTGCCGGGGGGTGTTC	0.579													9	163	---	---	---	---					
ASIC2	40	broad.mit.edu	37	17	31439004	31439005	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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_ENST00000359872.6_Frame_Shift_Ins_p.R213fs|ASIC2_ENST00000448983.1_5'UTR	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													9	166	---	---	---	---					
WNK4	65266	broad.mit.edu	37	17	40939869	40939870	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:40939869_40939870insG	ENST00000246914.5	+	8	1836_1837	c.1815_1816insG	c.(1813-1818)ccggggfs	p.PG605fs	WNK4_ENST00000587705.1_Intron	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	605					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTCAGCCCCCTGGGGGGGTGCC	0.634													7	72	---	---	---	---					
CD300LG	146894	broad.mit.edu	37	17	41931337	41931338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:41931337_41931338insC	ENST00000317310.4	+	4	685_686	c.644_645insC	c.(643-645)cccfs	p.P215fs	CD300LG_ENST00000377203.4_Frame_Shift_Ins_p.P181fs|CD300LG_ENST00000293396.8_Frame_Shift_Ins_p.P130fs|CD300LG_ENST00000539718.1_Frame_Shift_Ins_p.P215fs|CD300LG_ENST00000586233.1_Frame_Shift_Ins_p.P130fs	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	215						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGAGCTCCCGCCCCCCCATGC	0.629													9	82	---	---	---	---					
DBF4B	80174	broad.mit.edu	37	17	42824551	42824552	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:42824551_42824552delCT	ENST00000315005.3	+	11	1069_1070	c.931_932delCT	c.(931-933)cfs	p.L311fs	DBF4B_ENST00000393547.2_Frame_Shift_Del_p.L311fs	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	311					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CTTCGAGGAGCTCCATGTGGTG	0.589													12	197	---	---	---	---					
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:50008356_50008357insC	ENST00000451037.2	-	3	1212_1213	c.272_273insG	c.(271-273)gagfs	p.E91fs	CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TTACCTTCCTGCCCCCCGTGTT	0.490													14	848	---	---	---	---					
PSMC5	5705	broad.mit.edu	37	17	61908770	61908771	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:61908770_61908771insC	ENST00000310144.6	+	9	1262_1263	c.954_955insC	c.(952-957)ccccccfs	p.PP318fs	PSMC5_ENST00000581882.1_Frame_Shift_Ins_p.PP310fs|PSMC5_ENST00000580864.1_Frame_Shift_Ins_p.PP310fs|PSMC5_ENST00000375812.4_Frame_Shift_Ins_p.PP310fs	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	318					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						TTGAATTCCCACCCCCCAATGA	0.545													8	413	---	---	---	---					
SCN4A	6329	broad.mit.edu	37	17	62049212	62049213	+	Splice_Site	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:62049212_62049213insG	ENST00000578147.1	-	4	559		c.e4-2		SCN4A_ENST00000435607.1_Splice_Site			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit						muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AAGGTGTACCTGGGGGGGAGAG	0.589													7	137	---	---	---	---					
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													15	913	---	---	---	---					
GRB2	2885	broad.mit.edu	37	17	73389642	73389643	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:73389642_73389643insC	ENST00000392562.1	-	2	849_850	c.67_68insG	c.(67-69)catfs	p.H23fs	GRB2_ENST00000316615.5_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000392563.1_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000392564.1_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000316804.5_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000578961.1_Frame_Shift_Ins_p.H23fs			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	23	SH3 1.				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	CTTGAGGATGTCCCCCCTTTTG	0.530													10	774	---	---	---	---					
USP36	57602	broad.mit.edu	37	17	76814760	76814761	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:76814760_76814761insC	ENST00000312010.6	-	10	1335_1336	c.1011_1012insG	c.(1009-1014)ggagatfs	p.D338fs	USP36_ENST00000449938.2_Frame_Shift_Ins_p.D38fs|USP36_ENST00000588467.1_5'UTR|USP36_ENST00000542802.2_Frame_Shift_Ins_p.D338fs	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	338					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TTGGTGATCTTCCCCCCGCTGA	0.540													8	336	---	---	---	---					
ZNF532	55205	broad.mit.edu	37	18	56585962	56585963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr18:56585962_56585963insC	ENST00000336078.4	+	4	1219_1220	c.443_444insC	c.(442-444)gccfs	p.A148fs	ZNF532_ENST00000589288.1_Frame_Shift_Ins_p.A148fs|ZNF532_ENST00000591083.1_Frame_Shift_Ins_p.A148fs|ZNF532_ENST00000591808.1_Frame_Shift_Ins_p.A148fs|ZNF532_ENST00000591230.1_Frame_Shift_Ins_p.A148fs	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GAGGTGGATGACCCCCCTGACA	0.554													7	861	---	---	---	---					
DENND1C	79958	broad.mit.edu	37	19	6468935	6468936	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:6468935_6468936insC	ENST00000381480.2	-	20	1548_1549	c.1436_1437insG	c.(1435-1437)gtcfs	p.V479fs	DENND1C_ENST00000543576.1_Frame_Shift_Ins_p.V435fs	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	479						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CCCTCAGAGAGCCCCCCCTCTG	0.624													7	52	---	---	---	---					
TUBB4A	10382	broad.mit.edu	37	19	6496087	6496088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:6496087_6496088insC	ENST00000264071.2	-	4	793_794	c.422_423insG	c.(421-423)gggfs	p.G141fs	TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000540257.1_Frame_Shift_Ins_p.G141fs|TUBB4A_ENST00000598006.1_3'UTR			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	141					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										ACCCCGTGCCACCCCCCAGCGA	0.649													10	395	---	---	---	---					
C3	718	broad.mit.edu	37	19	6697480	6697481	+	Frame_Shift_Ins	INS	-	-	G	rs137956083		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													15	271	---	---	---	---					
SH2D3A	10045	broad.mit.edu	37	19	6755179	6755180	+	Frame_Shift_Ins	INS	-	-	G	rs139813452	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:6755179_6755180insG	ENST00000245908.6	-	5	912_913	c.643_644insC	c.(643-645)gacfs	p.D215fs	SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.D93fs|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	215					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGAGGGTGTCCGGGGGGGCTTC	0.653													21	751	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9048248	9048248	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:9048248delG	ENST00000397910.4	-	5	33586	c.33383delC	c.(33382-33384)tafs	p.S11128fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11130	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						GGTGGCCATTGAAGGTGTGGT	0.502													10	795	---	---	---	---					
ZNF846	162993	broad.mit.edu	37	19	9869150	9869150	+	Frame_Shift_Del	DEL	T	T	-	rs118035535	by1000genomes	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:9869150delT	ENST00000397902.2	-	6	1016	c.603delA	c.(601-603)aafs	p.K201fs	ZNF846_ENST00000592859.1_Frame_Shift_Del_p.K72fs|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000588267.1_Frame_Shift_Del_p.K72fs	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TCCAACAGTCTTTGCATTCAC	0.358													54	57	---	---	---	---					
C3P1	388503	broad.mit.edu	37	19	10160752	10160753	+	RNA	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:10160752_10160753insC	ENST00000495140.1	+	0	1411																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TAGTGGTCGTGCCCCCCACCTC	0.599													7	752	---	---	---	---					
EPOR	2057	broad.mit.edu	37	19	11488680	11488681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:11488680_11488681insG	ENST00000222139.6	-	8	1610_1611	c.1506_1507insC	c.(1504-1509)ccgctafs	p.L503fs	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	503						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GCCACATAGCTGGGGGGCAGAG	0.569											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	1109	---	---	---	---					
GCDH	2639	broad.mit.edu	37	19	13008600	13008601	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:13008600_13008601insG	ENST00000222214.5	+	11	1377_1378	c.1166_1167insG	c.(1165-1167)cggfs	p.R389fs	GCDH_ENST00000422947.2_Frame_Shift_Ins_p.R345fs|GCDH_ENST00000457854.1_Frame_Shift_Ins_p.R389fs|GCDH_ENST00000591470.1_Frame_Shift_Ins_p.R389fs			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	389					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						CGAGACATGCTGGGGGGGAATG	0.599													7	165	---	---	---	---					
NOTCH3	4854	broad.mit.edu	37	19	15276860	15276861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:15276860_15276861insC	ENST00000263388.2	-	30	5479_5480	c.5404_5405insG	c.(5404-5406)tctfs	p.S1802fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1802					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGGCTCCAGAGCCCCCCCACAG	0.569													12	237	---	---	---	---					
CIB3	117286	broad.mit.edu	37	19	16275654	16275655	+	Frame_Shift_Ins	INS	-	-	T	rs6512087	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:16275654_16275655insT	ENST00000269878.4	-	5	465_466	c.416_417insA	c.(415-417)gctfs	p.A139fs	CIB3_ENST00000379859.3_Frame_Shift_Ins_p.A90fs|CIB3_ENST00000541493.1_5'UTR	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	139			G -> E (in dbSNP:rs6512087).				calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						CGGCACTCAGCCCCCCCCGCGT	0.569													7	373	---	---	---	---					
NWD1	284434	broad.mit.edu	37	19	16860826	16860827	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:16860826_16860827insC	ENST00000524140.2	+	6	1791_1792	c.1373_1374insC	c.(1372-1374)tccfs	p.S458fs	NWD1_ENST00000523826.1_Frame_Shift_Ins_p.S252fs|NWD1_ENST00000339803.6_Frame_Shift_Ins_p.S323fs|NWD1_ENST00000552788.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000549814.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000379808.3_Frame_Shift_Ins_p.S458fs	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	458	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCTCTCAACTGCCCCCCGAGGG	0.629													9	327	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769061	31769062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:31769061_31769062insC	ENST00000240587.4	-	2	1964_1965	c.1637_1638insG	c.(1636-1638)gtafs	p.V546fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	546					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCTGGGATAGCCCCCCCAGCT	0.559													9	272	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													10	411	---	---	---	---					
FBL	2091	broad.mit.edu	37	19	40325192	40325193	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:40325192_40325193insG	ENST00000221801.3	-	9	1064_1065	c.951_952insC	c.(949-954)ccaggtfs	p.G318fs	FBL_ENST00000593503.1_5'UTR	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	318					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TTCTTCACCTTGGGGGGTGGCC	0.505													11	573	---	---	---	---					
FCGBP	8857	broad.mit.edu	37	19	40433821	40433822	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:40433821_40433822insG	ENST00000221347.6	-	2	454_455	c.447_448insC	c.(445-450)ccgcacfs	p.H150fs		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	150	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCTGAGGTGCCGGGGGGTGTGA	0.604													13	303	---	---	---	---					
AXL	558	broad.mit.edu	37	19	41743932	41743933	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:41743932_41743933insC	ENST00000301178.4	+	7	1057_1058	c.867_868insC	c.(865-870)gtccccfs	p.VP289fs	AXL_ENST00000593513.1_Frame_Shift_Ins_p.VP21fs|AXL_ENST00000359092.3_Frame_Shift_Ins_p.VP289fs	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	289	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AAGCATCCGTGCCCCCCCATCA	0.649													23	457	---	---	---	---					
HNRNPUL1	11100	broad.mit.edu	37	19	41798238	41798239	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:41798238_41798239insG	ENST00000392006.3	+	8	1261_1262	c.1088_1089insG	c.(1087-1089)tggfs	p.W363fs	HNRNPUL1_ENST00000378215.4_Frame_Shift_Ins_p.W249fs|HNRNPUL1_ENST00000595018.1_Frame_Shift_Ins_p.W263fs|HNRNPUL1_ENST00000593587.1_Frame_Shift_Ins_p.W263fs|HNRNPUL1_ENST00000263367.3_Frame_Shift_Ins_p.W274fs|HNRNPUL1_ENST00000352456.3_Frame_Shift_Ins_p.W263fs|HNRNPUL1_ENST00000602130.1_Frame_Shift_Ins_p.W363fs	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	363	B30.2/SPRY.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						AAGGAAGCCTTGGGGGGTCAGG	0.500													7	602	---	---	---	---					
CCDC97	90324	broad.mit.edu	37	19	41825517	41825518	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													16	1172	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:43439519_43439520insC	ENST00000446844.3	-	0	520				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515													15	1135	---	---	---	---					
MARK4	57787	broad.mit.edu	37	19	45805663	45805664	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:45805663_45805664insC	ENST00000300843.4	+	18	2331_2332	c.2034_2035insC	c.(2032-2037)ccccccfs	p.PP678fs	MARK4_ENST00000262891.4_Frame_Shift_Ins_p.P652fs	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	0					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AACGGAAACCGCCCCCCGGCTG	0.639													10	305	---	---	---	---					
IGFL2	147920	broad.mit.edu	37	19	46663998	46663999	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:46663998_46663999insC	ENST00000434646.2	+	4	525_526	c.234_235insC	c.(232-237)ggccccfs	p.GP78fs	AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000377693.4_Frame_Shift_Ins_p.GP67fs|IGFL2_ENST00000600243.1_3'UTR	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	67						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		GCCAATGTGGTCCCCCCTGCAC	0.554													13	1333	---	---	---	---					
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000357778.5_5'UTR	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													10	407	---	---	---	---					
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													31	479	---	---	---	---					
TSKS	60385	broad.mit.edu	37	19	50243087	50243088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													10	617	---	---	---	---					
NAPSA	9476	broad.mit.edu	37	19	50862305	50862306	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:50862305_50862306insC	ENST00000253719.2	-	8	1205_1206	c.997_998insG	c.(997-999)ctgfs	p.L333fs	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	333					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GTTAAACCAGACCCCCCCAAGA	0.530													7	194	---	---	---	---					
SHANK1	50944	broad.mit.edu	37	19	51192459	51192460	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:51192459_51192460insC	ENST00000293441.1	-	15	2059_2060	c.2041_2042insG	c.(2041-2043)caafs	p.Q681fs	SHANK1_ENST00000391814.1_Frame_Shift_Ins_p.Q681fs|SHANK1_ENST00000391813.1_Frame_Shift_Ins_p.Q68fs|SHANK1_ENST00000359082.3_Frame_Shift_Ins_p.Q672fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	681	PDZ.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.A681S(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTCACCCTTGGCCCCCCGGAGC	0.609													7	423	---	---	---	---					
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													17	454	---	---	---	---					
ZNF175	7728	broad.mit.edu	37	19	52090436	52090437	+	Frame_Shift_Ins	INS	-	-	G	rs138396190		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:52090436_52090437insG	ENST00000262259.2	+	5	1210_1211	c.852_853insG	c.(850-855)tgggggfs	p.WG284fs	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	284					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTTCTGAATGTGGGGGGAGCTT	0.441													7	598	---	---	---	---					
CNOT3	4849	broad.mit.edu	37	19	54649666	54649667	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													11	136	---	---	---	---					
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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													14	477	---	---	---	---					
JAG1	182	broad.mit.edu	37	20	10620244	10620245	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:10620244_10620245insG	ENST00000254958.5	-	26	4073_4074	c.3558_3559insC	c.(3556-3561)ccacggfs	p.R1187fs	JAG1_ENST00000423891.2_Frame_Shift_Ins_p.R1028fs	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1187					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGCGTGCCGTTGGGGGGCTTCT	0.515									Alagille Syndrome				7	321	---	---	---	---					
KIF16B	55614	broad.mit.edu	37	20	16407830	16407831	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:16407830_16407831insC	ENST00000354981.2	-	15	1687_1688	c.1530_1531insG	c.(1528-1533)ggcagtfs	p.S511fs	KIF16B_ENST00000408042.1_Frame_Shift_Ins_p.S511fs|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Frame_Shift_Ins_p.S511fs	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	511	FHA.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AGAGTCACTGTCCCCCCGATAT	0.431													7	558	---	---	---	---					
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:23667825_23667826insC	ENST00000217423.3	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAAG	0.554													41	421	---	---	---	---					
CST1	1469	broad.mit.edu	37	20	23729753	23729754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:23729753_23729754insC	ENST00000304749.2	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs	CST1_ENST00000398402.1_Frame_Shift_Ins_p.E81fs	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	81						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					GAAGTAATTCACCCCCCCAACG	0.554													38	592	---	---	---	---					
FRG1B	284802	broad.mit.edu	37	20	29624034	29624035	+	Frame_Shift_Ins	INS	-	-	G	rs73621649		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:29624034_29624035insG	ENST00000439954.2	+	4	419_420	c.73_74insG	c.(73-75)tgafs	p.*25fs	FRG1B_ENST00000278882.3_Intron|FRG1B_ENST00000358464.4_Intron																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TTTCTCCAATATTGATGAGGGC	0.287													2	4	---	---	---	---					
PLAGL2	5326	broad.mit.edu	37	20	30789951	30789952	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:30789951_30789952insG	ENST00000246229.4	-	2	294_295	c.30_31insC	c.(28-33)ccggatfs	p.D11fs		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	11						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCTTGAATCCAGGGGGGGACGC	0.559													8	323	---	---	---	---					
DNMT3B	1789	broad.mit.edu	37	20	31384650	31384651	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:31384650_31384651insG	ENST00000328111.2	+	13	1673_1674	c.1352_1353insG	c.(1351-1353)gggfs	p.G451fs	DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.G443fs|DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.G389fs|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.G355fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.G431fs	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	451	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCTCTTTGAGGGGGGGCTCT	0.559													15	265	---	---	---	---					
SOGA1	140710	broad.mit.edu	37	20	35443591	35443592	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:35443591_35443592insG	ENST00000237536.4	-	5	2594_2595	c.2253_2254insC	c.(2251-2256)cctgggfs	p.G752fs	SOGA1_ENST00000456801.2_Frame_Shift_Ins_p.G355fs|SOGA1_ENST00000279034.5_Frame_Shift_Ins_p.G514fs|SOGA1_ENST00000357779.3_Frame_Shift_Ins_p.G514fs	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	514										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TGGGAGCCCAAGGGGGGCAGTG	0.535													7	636	---	---	---	---					
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)cccfs	p.P379fs	RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446													11	203	---	---	---	---					
LPIN3	64900	broad.mit.edu	37	20	39977798	39977799	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:39977798_39977799insC	ENST00000373257.3	+	5	715_716	c.624_625insC	c.(622-627)tgccccfs	p.CP208fs		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	208					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				ATGGCGAGTGGCCCCCCCAGGC	0.540													10	237	---	---	---	---					
SLC12A5	57468	broad.mit.edu	37	20	44680421	44680422	+	Frame_Shift_Ins	INS	-	-	G	rs138144890		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:44680421_44680422insG	ENST00000454036.1	+	18	2434_2435	c.2358_2359insG	c.(2356-2361)ctggggfs	p.LG786fs	SLC12A5_ENST00000243964.3_Frame_Shift_Ins_p.LG763fs	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	786					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCGGGGGCCTCGGGGGGCTGCA	0.599													9	376	---	---	---	---					
NCOA5	57727	broad.mit.edu	37	20	44691403	44691404	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:44691403_44691404insG	ENST00000290231.6	-	8	1439_1440	c.1275_1276insC	c.(1273-1278)cccctcfs	p.L426fs		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGCTGGGAGGTGGGGGGTGCAG	0.619													9	447	---	---	---	---					
SLC13A3	64849	broad.mit.edu	37	20	45194969	45194970	+	Frame_Shift_Ins	INS	-	-	G	rs149123701	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:45194969_45194970insG	ENST00000279027.4	-	11	1410_1411	c.1392_1393insC	c.(1390-1395)ccccctfs	p.PP464fs	SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.PP414fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.PP49fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.PP417fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	464						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	p.P464P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ACAGCCAGGGCGGGGGGCACAT	0.604													12	560	---	---	---	---					
PARD6B	84612	broad.mit.edu	37	20	49366718	49366719	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:49366718_49366719delAC	ENST00000371610.2	+	3	1055_1056	c.812_813delAC	c.(811-813)afs	p.N271fs	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	271					axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						TCTACTGATAACAGCCTTCTTG	0.470													119	214	---	---	---	---					
PHACTR3	116154	broad.mit.edu	37	20	58342388	58342389	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:58342388_58342389insC	ENST00000371015.1	+	5	1156_1157	c.689_690insC	c.(688-690)accfs	p.T230fs	PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000355648.4_Frame_Shift_Ins_p.T189fs|PHACTR3_ENST00000359926.3_Frame_Shift_Ins_p.T227fs|PHACTR3_ENST00000541461.1_Frame_Shift_Ins_p.T189fs|PHACTR3_ENST00000395636.2_Frame_Shift_Ins_p.T189fs|PHACTR3_ENST00000395639.4_Intron	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	230	Pro-rich.					nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CAGCTCCCCAGCCCCCCACTGC	0.594													7	262	---	---	---	---					
OSBPL2	9885	broad.mit.edu	37	20	60854257	60854258	+	Frame_Shift_Ins	INS	-	-	C	rs79735057		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:60854257_60854258insC	ENST00000313733.3	+	7	738_739	c.536_537insC	c.(535-537)cccfs	p.P179fs	OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.P87fs|OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.P167fs	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	179					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GTCAGTCACCACCCCCCCATCA	0.465													14	267	---	---	---	---					
YTHDF1	54915	broad.mit.edu	37	20	61833738	61833738	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:61833738delT	ENST00000370339.3	-	4	1895	c.1554delA	c.(1552-1554)cafs	p.Q518fs	YTHDF1_ENST00000370333.4_Frame_Shift_Del_p.Q468fs|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	518	YTH.									NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTTTCAGCACTTGCTTGGCTT	0.532													9	112	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11038792	11038793	+	RNA	INS	-	-	T	rs8175341		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:11038792_11038793insT	ENST00000470054.1	-	0	1410_1411									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACCCATGCCAGTTTTTTGGAGT	0.416													7	962	---	---	---	---					
ITSN1	6453	broad.mit.edu	37	21	35122566	35122567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:35122566_35122567insC	ENST00000381318.3	+	6	753_754	c.465_466insC	c.(463-468)gtccccfs	p.VP155fs	ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.VP155fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.VP118fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	155					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAGCAGCTGTGCCCCCCCTGGC	0.525													7	208	---	---	---	---					
PSMG1	8624	broad.mit.edu	37	21	40550409	40550409	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:40550409delT	ENST00000331573.3	-	5	1086	c.621delA	c.(619-621)gafs	p.E207fs	PSMG1_ENST00000380900.2_Frame_Shift_Del_p.E186fs	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	207					proteasome assembly	endoplasmic reticulum	protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				TATTCGGTTGTTCTAGCAATG	0.388													27	116	---	---	---	---					
ZBTB21	49854	broad.mit.edu	37	21	43411090	43411098	+	In_Frame_Del	DEL	ATGTGATTG	ATGTGATTG	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:43411090_43411098delATGTGATTG	ENST00000310826.5	-	3	3290_3298	c.3107_3115delCAATCACAT	c.(3106-3117)gtt>g	p.AITF1036del	ZBTB21_ENST00000398511.3_In_Frame_Del_p.AITF1036del|ZBTB21_ENST00000398505.3_In_Frame_Del_p.AITF835del|ZBTB21_ENST00000398499.1_In_Frame_Del_p.AITF1036del	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		TGTCTTTTAAATGTGATTGCTGAAAGGGG	0.440													26	82	---	---	---	---					
PDE9A	5152	broad.mit.edu	37	21	44171249	44171250	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:44171249_44171250insT	ENST00000291539.6	+	9	737_738	c.677_678insT	c.(676-678)attfs	p.I226fs	PDE9A_ENST00000335440.6_Frame_Shift_Ins_p.I124fs|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398227.3_Frame_Shift_Ins_p.I66fs|PDE9A_ENST00000398224.3_Frame_Shift_Ins_p.I99fs|PDE9A_ENST00000328862.6_Frame_Shift_Ins_p.I200fs|PDE9A_ENST00000398232.3_Frame_Shift_Ins_p.I159fs|PDE9A_ENST00000398225.3_Frame_Shift_Ins_p.I185fs|PDE9A_ENST00000398236.3_Frame_Shift_Ins_p.I140fs|PDE9A_ENST00000539837.1_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000380328.2_Frame_Shift_Ins_p.I173fs|PDE9A_ENST00000335512.4_Frame_Shift_Ins_p.I166fs|PDE9A_ENST00000398229.3_Frame_Shift_Ins_p.I92fs|PDE9A_ENST00000349112.3_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000398234.3_Frame_Shift_Ins_p.I125fs	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	226					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						TGTAAGTACAGTTTTTTGGATA	0.520													11	901	---	---	---	---					
MCM3AP	8888	broad.mit.edu	37	21	47666704	47666705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:47666704_47666705insG	ENST00000397708.1	-	22	4640_4641	c.4386_4387insC	c.(4384-4389)ccaaatfs	p.N1463fs	MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.N1463fs|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1463					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTCTTCATTTTGGGGGGAAGCA	0.609													17	779	---	---	---	---					
CECR1	51816	broad.mit.edu	37	22	17662759	17662760	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:17662759_17662760insC	ENST00000399839.1	-	9	1662_1663	c.1392_1393insG	c.(1390-1395)ggtgaafs	p.E465fs	CECR1_ENST00000449907.2_Frame_Shift_Ins_p.E423fs|CECR1_ENST00000262607.3_Frame_Shift_Ins_p.E465fs|CECR1_ENST00000399837.2_Frame_Shift_Ins_p.E465fs|CECR1_ENST00000330232.4_Frame_Shift_Ins_p.E224fs			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													7	478	---	---	---	---					
CECR2	27443	broad.mit.edu	37	22	18022285	18022286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:18022285_18022286insC	ENST00000262608.8	+	15	2390_2391	c.2390_2391insC	c.(2389-2391)gccfs	p.A797fs	CECR2_ENST00000400573.4_Frame_Shift_Ins_p.A796fs|CECR2_ENST00000400585.2_Frame_Shift_Ins_p.A655fs	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	838					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGACCACCTGTCCCCCCCAACC	0.609													9	261	---	---	---	---					
SERPIND1	3053	broad.mit.edu	37	22	21138419	21138420	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:21138419_21138420insG	ENST00000215727.5	+	3	1332_1333	c.1049_1050insG	c.(1048-1050)gggfs	p.G350fs	PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.G350fs|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	350					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CTGGAATACGTGGGGGGCATCA	0.540											OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	508	---	---	---	---					
ZNF280A	129025	broad.mit.edu	37	22	22869526	22869527	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:22869526_22869527insG	ENST00000302097.3	-	2	680_681	c.428_429insC	c.(427-429)cggfs	p.R143fs		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ACTGAGTCCCTGGGGGGAGCGA	0.455													7	295	---	---	---	---					
ZNF70	7621	broad.mit.edu	37	22	24087085	24087086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:24087085_24087086insG	ENST00000341976.3	-	2	702_703	c.242_243insC	c.(241-243)cggfs	p.R81fs		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	81						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						GTCTGGTTCCTGGGGGGATACT	0.495													7	1037	---	---	---	---					
RP1-288L1.4	0	broad.mit.edu	37	22	35111630	35111631	+	RNA	INS	-	-	TCC	rs139630126	by1000genomes	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:35111630_35111631insTCC	ENST00000440858.1	-	0	64																											cctcattctcttcctcctcctc	0.495													4	8	---	---	---	---					
TOM1	10043	broad.mit.edu	37	22	35730352	35730352	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:35730352delG	ENST00000411850.1	+	11	1184	c.1059delG	c.(1057-1059)ctfs	p.L353fs	TOM1_ENST00000449058.2_Frame_Shift_Del_p.L353fs|TOM1_ENST00000436462.2_Frame_Shift_Del_p.L315fs|TOM1_ENST00000425375.1_Frame_Shift_Del_p.L308fs|TOM1_ENST00000382034.5_3'UTR|TOM1_ENST00000447733.1_Frame_Shift_Del_p.L320fs	NM_001135732.1	NP_001129204.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	353					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						GAGCTGGCCTGCAGTCTCTGG	0.582													9	111	---	---	---	---					
TMPRSS6	164656	broad.mit.edu	37	22	37466612	37466612	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:37466612delG	ENST00000381792.2	-	15	1893	c.1753delC	c.(1753-1755)tcfs	p.L585fs	TMPRSS6_ENST00000346753.3_Frame_Shift_Del_p.L594fs|TMPRSS6_ENST00000406725.1_Frame_Shift_Del_p.L585fs|TMPRSS6_ENST00000406856.1_Frame_Shift_Del_p.L585fs			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	594	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CGAACCTGGAGGCTGGCCTGC	0.672													8	24	---	---	---	---					
POLR2F	5435	broad.mit.edu	37	22	38363690	38363691	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:38363690_38363691insG	ENST00000442738.2	+	5	477_478	c.352_353insG	c.(352-354)gggfs	p.G118fs	POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000484894.1_Intron|POLR2F_ENST00000470701.1_Frame_Shift_Ins_p.G113fs	NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F	118					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					CTATGAAGACTGGGGGGTGGAC	0.515													8	370	---	---	---	---					
ATF4	468	broad.mit.edu	37	22	39917950	39917951	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:39917950_39917951insC	ENST00000337304.2	+	2	1281_1282	c.399_400insC	c.(397-402)caccccfs	p.HP133fs	ATF4_ENST00000404241.2_Frame_Shift_Ins_p.HP133fs|ATF4_ENST00000396680.1_Frame_Shift_Ins_p.HP133fs	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	133					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					CTAATAAGCAGCCCCCCCAGAC	0.525													19	252	---	---	---	---					
TNRC6B	23112	broad.mit.edu	37	22	40681766	40681767	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:40681766_40681767insC	ENST00000454349.2	+	12	3911_3912	c.3700_3701insC	c.(3700-3702)cccfs	p.P1234fs	TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.P1124fs|TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.P430fs|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													9	457	---	---	---	---					
TNRC6B	23112	broad.mit.edu	37	22	40708590	40708591	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:40708590_40708591insG	ENST00000454349.2	+	18	4728_4729	c.4517_4518insG	c.(4516-4518)cggfs	p.R1506fs	TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.R1396fs|TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.R702fs|TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.R702fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1506					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						GGAAGTGTGCTGGGGGGTACAG	0.480													8	666	---	---	---	---					
EP300	2033	broad.mit.edu	37	22	41574678	41574679	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:41574678_41574679insC	ENST00000263253.7	+	31	8182_8183	c.6963_6964insC	c.(6961-6966)caccccfs	p.HP2321fs	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2321					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CACAGTCCCAGCCCCCCCACTC	0.609			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				7	153	---	---	---	---					
CERK	64781	broad.mit.edu	37	22	47086001	47086002	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:47086001_47086002insC	ENST00000216264.8	-	12	1540_1541	c.1428_1429insG	c.(1426-1431)ggagaafs	p.E477fs	CERK_ENST00000541677.1_Frame_Shift_Ins_p.E279fs|CERK_ENST00000471929.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	477					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	p.K477fs*>61(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AAGCGCTTCTTCCCCCCCTCCT	0.559													7	240	---	---	---	---					
PPP6R2	9701	broad.mit.edu	37	22	50845255	50845256	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:50845255_50845256insT	ENST00000359139.3	+	4	759_760	c.365_366insT	c.(364-366)attfs	p.I122fs	PPP6R2_ENST00000216061.5_Frame_Shift_Ins_p.I122fs|PPP6R2_ENST00000395741.3_Frame_Shift_Ins_p.I122fs|PPP6R2_ENST00000395744.3_Frame_Shift_Ins_p.I122fs	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	122						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CTGCTCGCCAGTTTTTTCAGCA	0.559													8	2037	---	---	---	---					
DHRSX	207063	broad.mit.edu	37	X	2343335	2343336	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:2343335_2343336insG	ENST00000334651.5	-	2	171_172	c.119_120insC	c.(118-120)ccgfs	p.P40fs		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	40							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GGTCAGGTCGTGGGGGGAAAAC	0.455													18	492	---	---	---	---					
ARHGAP6	395	broad.mit.edu	37	X	11162200	11162201	+	Frame_Shift_Ins	INS	-	-	C	rs145388618		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:11162200_11162201insC	ENST00000337414.4	-	11	2947_2948	c.2075_2076insG	c.(2074-2076)gtcfs	p.V692fs	ARHGAP6_ENST00000380718.1_Frame_Shift_Ins_p.V692fs|ARHGAP6_ENST00000380736.1_Frame_Shift_Ins_p.V489fs|ARHGAP6_ENST00000303025.6_Frame_Shift_Ins_p.V489fs|ARHGAP6_ENST00000534860.1_Frame_Shift_Ins_p.V517fs|ARHGAP6_ENST00000413512.3_3'UTR	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	692					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GCTTCTCCGAGCCCCCCGGGGC	0.584											OREG0019666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	165	---	---	---	---					
PRRG1	5638	broad.mit.edu	37	X	37312610	37312611	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:37312610_37312611insC	ENST00000542554.1	+	5	665_666	c.393_394insC	c.(391-396)ccccccfs	p.PP131fs	PRRG1_ENST00000543642.1_Frame_Shift_Ins_p.PP131fs|PRRG1_ENST00000449135.2_Frame_Shift_Ins_p.PP131fs|PRRG1_ENST00000378628.4_Frame_Shift_Ins_p.PP131fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	131	Poly-Pro.					extracellular region|integral to plasma membrane	calcium ion binding	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TTATCACCCCACCCCCCCCACC	0.485													12	190	---	---	---	---					
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	Frame_Shift_Ins	INS	-	-	G	rs41305745	by1000genomes	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:48159107_48159108insG	ENST00000376909.1	-	6	487_488	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TTGGTTTTCCCGGGGGGCACAG	0.490													9	439	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	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	408	---	---	---	---					
GAGE10	643832	broad.mit.edu	37	X	49161392	49161393	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:49161392_49161393insC	ENST00000407599.3	+	2	147_148	c.54_55insC	c.(52-57)gaccccfs	p.DP18fs		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	18										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					TCTATGTAGAGCCCCCTGAAAT	0.421													7	575	---	---	---	---					
SHROOM4	57477	broad.mit.edu	37	X	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-	rs6614551		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:50350711_50350713delTCC	ENST00000376020.2	-	6	3454_3456	c.3429_3431delGGA	c.(3427-3432)gaa>ga	p.EE1149del	SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del|SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1149	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttctt	0.547													7	20	---	---	---	---					
IL2RG	3561	broad.mit.edu	37	X	70327613	70327614	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:70327613_70327614insG	ENST00000374202.2	-	8	1173_1174	c.1082_1083insC	c.(1081-1083)ctgfs	p.L361fs	IL2RG_ENST00000374188.3_Frame_Shift_Ins_p.L90fs|IL2RG_ENST00000456850.2_Frame_Shift_Ins_p.L171fs	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	361					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GGGTGTAACATGGGGGGGCCCA	0.584									Severe Combined Immunodeficiency, X-linked				10	79	---	---	---	---					
NHSL2	340527	broad.mit.edu	37	X	71360110	71360111	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:71360110_71360111insC	ENST00000373677.1	+	2	2876_2877	c.1614_1615insC	c.(1612-1617)atccccfs	p.IP538fs	NHSL2_ENST00000535692.1_Frame_Shift_Ins_p.IP538fs|NHSL2_ENST00000510661.1_Frame_Shift_Ins_p.IP673fs|NHSL2_ENST00000540800.1_Frame_Shift_Ins_p.IP904fs			F5H593	F5H593_HUMAN	NHS-like 2	904										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CCTTGGCTATGCCCCCCAGGAG	0.574													7	155	---	---	---	---					
KIAA2022	340533	broad.mit.edu	37	X	73963268	73963269	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:73963268_73963269insC	ENST00000373468.1	-	3	1774_1775	c.1123_1124insG	c.(1123-1125)ggafs	p.G375fs	KIAA2022_ENST00000055682.5_Frame_Shift_Ins_p.G375fs			Q5QGS0	K2022_HUMAN	KIAA2022	375					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTATCTTCCTCCCCCCAGATG	0.475													7	354	---	---	---	---					
ZCCHC12	170261	broad.mit.edu	37	X	117960135	117960136	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:117960135_117960136insC	ENST00000310164.2	+	4	1435_1436	c.928_929insC	c.(928-930)cccfs	p.P310fs		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GGTCATTGATTCCCCCCACAAT	0.564													14	845	---	---	---	---					
F8	2157	broad.mit.edu	37	X	154157686	154157686	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:154157686delT	ENST00000360256.4	-	14	4579	c.4379delA	c.(4378-4380)atfs	p.N1461fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1461	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.N1460fs*5(2)|p.N1460fs*2(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGAAAGGTTATTTTTTTTGGC	0.413													7	273	---	---	---	---					
PLOD1	5351	broad.mit.edu	37	1	12024284	12024285	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:12024284_12024285insG	ENST00000196061.4	+	12	1282_1283	c.1255_1256insG	c.(1255-1257)gggfs	p.G419fs	PLOD1_ENST00000376369.3_Frame_Shift_Ins_p.G466fs	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	419					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	p.A421fs*45(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	GTCGAACTTCTGGGGGGCTCTC	0.629													8	223	---	---	---	---					
RPS6KA1	6195	broad.mit.edu	37	1	26900615	26900616	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:26900615_26900616insC	ENST00000374168.2	+	22	2285_2286	c.2131_2132insC	c.(2131-2133)cccfs	p.P711fs	RPS6KA1_ENST00000374166.4_Frame_Shift_Ins_p.P700fs|RPS6KA1_ENST00000530003.1_Frame_Shift_Ins_p.P695fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Ins_p.P619fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Ins_p.P619fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Ins_p.P720fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	711					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)		CTCCAAGCCCACCCCCCAGCTG	0.629													7	151	---	---	---	---					
PEF1	553115	broad.mit.edu	37	1	32101045	32101047	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:32101045_32101047delGCC	ENST00000373703.4	-	2	123_125	c.101_103delGGC	c.(100-105)gag>g	p.GQ34del	PEF1_ENST00000492061.1_5'UTR|PEF1_ENST00000440872.2_In_Frame_Del_p.GQ34del	NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	34	9 X 9 AA approximate tandem repeat of [AP]-P-G-G-P-Y-G-G-P-P.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		CTACCATACTGCCCTCCACTATT	0.626													8	97	---	---	---	---					
TIE1	7075	broad.mit.edu	37	1	43778814	43778815	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:43778814_43778815insC	ENST00000372476.3	+	13	2015_2016	c.1936_1937insC	c.(1936-1938)cccfs	p.P646fs	TIE1_ENST00000433781.2_Frame_Shift_Ins_p.P291fs	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	646	Fibronectin type-III 3.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGGCCTCCAGCCCCCCGACAC	0.629													9	229	---	---	---	---					
NBPF10	100132406	broad.mit.edu	37	1	145303975	145303976	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:145303975_145303976insC	ENST00000342960.5	+	9	1407_1408	c.1372_1373insC	c.(1372-1374)cccfs	p.P458fs	NBPF10_ENST00000369339.2_Frame_Shift_Ins_p.P187fs|NBPF10_ENST00000369338.1_Frame_Shift_Ins_p.P187fs|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	458										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAAATCATCTGCCCCCAGGTAA	0.431													9	1187	---	---	---	---					
NBPF14	25832	broad.mit.edu	37	1	148009439	148009439	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:148009439delG	ENST00000369219.1	-	16	1884	c.1868delC	c.(1867-1869)tafs	p.S623fs				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	623	NBPF 7.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AAGACAACCTGAAGGAGTTGA	0.483													15	1997	---	---	---	---					
HRNR	388697	broad.mit.edu	37	1	152191276	152191277	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:152191276_152191277insC	ENST00000368801.2	-	3	2903_2904	c.2828_2829insG	c.(2827-2829)gtafs	p.V943fs	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	943					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGAGTGTAACCAGAGGACTG	0.569													20	273	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152323478	152323479	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:152323478_152323479delCA	ENST00000388718.5	-	3	6855_6856	c.6783_6784delTG	c.(6781-6786)agaafs	p.SE2261fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2261							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)			GAGTGCACTTCACTGTCACTGG	0.520													44	1766	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152324465	152324466	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:152324465_152324466insAT	ENST00000388718.5	-	3	5868_5869	c.5796_5797insAT	c.(5794-5799)cagccafs	p.P1933fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1933							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)			CTAGGGTGGCCATGTTCAGTGG	0.520													23	801	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152325663	152325663	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:152325663delT	ENST00000388718.5	-	3	4671	c.4599delA	c.(4597-4599)gafs	p.E1533fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1533							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)			GAATTATGGATTCTGACTCTC	0.493													17	903	---	---	---	---					
KPRP	448834	broad.mit.edu	37	1	152732263	152732263	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:152732263delT	ENST00000368773.1	+	2	257	c.199delT	c.(199-201)ctfs	p.S67fs	KPRP_ENST00000606109.1_Frame_Shift_Del_p.S67fs	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	67	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCATGCCAGTCTCAGACCAC	0.557													25	936	---	---	---	---					
RUSC1	23623	broad.mit.edu	37	1	155292753	155292779	+	In_Frame_Del	DEL	GTCCCGCCCCGGCCCCCACCCCCGCCT	GTCCCGCCCCGGCCCCCACCCCCGCCT	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:155292753_155292779delGTCCCGCCCCGGCCCCCACCCCCGCCT	ENST00000368352.5	+	2	1340_1366	c.1189_1215delGTCCCGCCCCGGCCCCCACCCCCGCCT	c.(1189-1215)del	p.VPPRPPPPP397del	RUSC1_ENST00000368354.3_In_Frame_Del_p.VPPRPPPPP397del|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	397						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CTGGGCTTTGGTCCCGCCCCGGCCCCCACCCCCGCCTGTCCCTCCCC	0.718													7	7	---	---	---	---					
IFT172	26160	broad.mit.edu	37	2	27684150	27684150	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:27684150delC	ENST00000260570.3	-	22	2531	c.2428delG	c.(2428-2430)aafs	p.E810fs		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	810					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCGTAGAGTTCCCCCTTGATA	0.567													151	250	---	---	---	---					
HTRA2	27429	broad.mit.edu	37	2	74757472	74757473	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:74757472_74757473insG	ENST00000258080.3	+	1	969_970	c.339_340insG	c.(337-342)gcggggfs	p.AG113fs	HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.AG113fs|HTRA2_ENST00000467961.1_Intron	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	113					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						CGCTGGGCGCTGGGGGGGCAGT	0.718													3	5	---	---	---	---					
DOK1	1796	broad.mit.edu	37	2	74782458	74782459	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:74782458_74782459insC	ENST00000233668.5	+	2	907_908	c.238_239insC	c.(238-240)cccfs	p.P80fs	DOK1_ENST00000409429.1_5'UTR|DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000340004.6_Frame_Shift_Ins_p.P80fs	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	80	PH.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding	p.E83fs*1(1)		endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CACCGTGGAGACCCCCCCTGAG	0.718													7	118	---	---	---	---					
KCNH7	90134	broad.mit.edu	37	2	163250997	163250997	+	Splice_Site	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:163250997delT	ENST00000332142.5	-	12	2713		c.e12-2			NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7						regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GAGATCAGCCTTTGTTAATGG	0.323													63	132	---	---	---	---					
AC079613.1	0	broad.mit.edu	37	2	189530745	189530748	+	RNA	DEL	TTCC	TTCC	-	rs113436335		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:189530745_189530748delTTCC	ENST00000431708.1	-	0	218																											ttccttccctttccttccttcctt	0.510													2	4	---	---	---	---					
DOCK10	55619	broad.mit.edu	37	2	225729789	225729790	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:225729789_225729790insA	ENST00000409592.3	-	12	1367_1368	c.1254_1255insT	c.(1252-1257)tttgagfs	p.E419fs	DOCK10_ENST00000258390.7_Frame_Shift_Ins_p.E425fs			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	425							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GCCACACTCACAAAAAAAGGCT	0.401													7	314	---	---	---	---					
PBRM1	55193	broad.mit.edu	37	3	52597506	52597506	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:52597506delT	ENST00000356770.4	-	23	3785	c.3783delA	c.(3781-3783)aafs	p.K1261fs	PBRM1_ENST00000296302.7_Frame_Shift_Del_p.K1293fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.K1293fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.K1268fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.K1308fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.K1293fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.K1308fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.K1268fs			Q86U86	PB1_HUMAN	polybromo 1	1293	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GAACAATTGGTTTTCTGAAAA	0.408			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								112	37	---	---	---	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)del	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507													9	1754	---	---	---	---					
PLXND1	23129	broad.mit.edu	37	3	129288750	129288751	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:129288750_129288751insC	ENST00000393239.1	-	20	3978_3979	c.3800_3801insG	c.(3799-3801)gagfs	p.E1267fs	PLXND1_ENST00000324093.4_Frame_Shift_Ins_p.E1267fs			Q9Y4D7	PLXD1_HUMAN	plexin D1	1267					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCGTCTCGCTGCCCCCCAGCTG	0.594													7	209	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1389330	1389331	+	Frame_Shift_Del	DEL	CA	CA	-	rs71299249		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:1389330_1389331delCA	ENST00000324803.4	+	1	3991_3992	c.1031_1032delCA	c.(1030-1032)tfs	p.S344fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	344					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCCGCCTGCTCACACGTGCCCA	0.658													9	171	---	---	---	---					
ZDHHC11	79844	broad.mit.edu	37	5	840726	840727	+	Frame_Shift_Ins	INS	-	-	G	rs142594593		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:840726_840727insG	ENST00000283441.8	-	5	1050_1051	c.667_668insC	c.(667-669)gttfs	p.V223fs	ZDHHC11_ENST00000424784.2_Frame_Shift_Ins_p.V223fs|ZDHHC11_ENST00000511539.1_Frame_Shift_Ins_p.V10fs|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	223						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CACCGGGAACAGGGGGAGGAAC	0.589													8	1510	---	---	---	---					
LINC01331	104310351	broad.mit.edu	37	5	73726286	73726286	+	RNA	DEL	A	A	-	rs148954741		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:73726286delA	ENST00000507781.1	-	0	422																											acagccacccaacgtgatgag	0.567													7	14	---	---	---	---					
RARS	5917	broad.mit.edu	37	5	167946165	167946166	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:167946165_167946166delCC	ENST00000231572.3	+	15	2007_2008	c.1953_1954delCC	c.(1951-1956)attgfs	p.IL651fs	RARS_ENST00000538719.1_Frame_Shift_Del_p.IL445fs	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	651				I -> T (in Ref. 1; AAB35627).	arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		GGTTTGATATCCTGGGAATAAA	0.396													7	156	---	---	---	---					
COL11A2	1302	broad.mit.edu	37	6	33152074	33152075	+	Frame_Shift_Ins	INS	-	-	G	rs147527758		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:33152074_33152075insG	ENST00000341947.2	-	8	1193_1194	c.966_967insC	c.(964-969)cccagcfs	p.S323fs	COL11A2_ENST00000374712.1_Intron|COL11A2_ENST00000357486.1_Frame_Shift_Ins_p.S302fs|COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000374708.4_Intron|COL11A2_ENST00000374714.1_Frame_Shift_Ins_p.S297fs|COL11A2_ENST00000374713.1_Frame_Shift_Ins_p.S276fs|COL11A2_ENST00000395197.1_Intron	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	323	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CTGTCGGCTGTGGGGGGGACCT	0.604													9	333	---	---	---	---					
C6orf222	389384	broad.mit.edu	37	6	36298220	36298221	+	Frame_Shift_Ins	INS	-	-	TCGGC			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:36298220_36298221insTCGGC	ENST00000437635.2	-	2	424_425	c.247_248insGCCGA	c.(247-249)tttfs	p.F83fs		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	83										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGGGAGAAAATCTCCGGTCTCC	0.614													8	240	---	---	---	---					
DNAH8	1769	broad.mit.edu	37	6	38875864	38875865	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:38875864_38875865insTG	ENST00000359357.3	+	62	9084_9085	c.8830_8831insTG	c.(8830-8832)gaafs	p.E2944fs	DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.E3161fs|DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.E2908fs					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGATCAAGGAAGAACTTACAT	0.356													11	63	---	---	---	---					
PTPRK	5796	broad.mit.edu	37	6	128319970	128319971	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:128319970_128319971insG	ENST00000368227.3	-	17	2975_2976	c.2609_2610insC	c.(2608-2610)ctafs	p.L870fs	PTPRK_ENST00000368226.4_Frame_Shift_Ins_p.L858fs|PTPRK_ENST00000368210.3_Frame_Shift_Ins_p.L870fs|PTPRK_ENST00000368215.3_Frame_Shift_Ins_p.L857fs|PTPRK_ENST00000368207.3_Frame_Shift_Ins_p.L884fs|PTPRK_ENST00000532331.1_Frame_Shift_Ins_p.L874fs|PTPRK_ENST00000368213.5_Frame_Shift_Ins_p.L858fs			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	857					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CTGTCTGGTAAGGGGATTCCGT	0.490													7	121	---	---	---	---					
TRGC2	6967	broad.mit.edu	37	7	38284885	38284886	+	RNA	INS	-	-	GGGT	rs138091320	by1000genomes	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:38284885_38284886insGGGT	ENST00000436911.2	-	0	330																											TATTTGTCAAGgtgtgtgtgtg	0.391													31	188	---	---	---	---					
ASL	435	broad.mit.edu	37	7	65557834	65557835	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:65557834_65557835delGC	ENST00000304874.9	+	17	1432_1433	c.1330_1331delGC	c.(1330-1332)gfs	p.A444fs	ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395332.3_Frame_Shift_Del_p.A444fs|ASL_ENST00000395331.3_Frame_Shift_Del_p.A424fs|ASL_ENST00000380839.4_Frame_Shift_Del_p.A418fs|AC068533.7_ENST00000450043.1_Intron	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	444					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GGGCGGCACTGCGCGCTCCAGC	0.668													10	81	---	---	---	---					
GATA4	2626	broad.mit.edu	37	8	11565860	11565861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr8:11565860_11565861insC	ENST00000335135.4	+	2	597_598	c.39_40insC	c.(37-42)ccccccfs	p.PP13fs	GATA4_ENST00000532059.1_Frame_Shift_Ins_p.PP13fs|GATA4_ENST00000528712.1_Intron	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	13					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		ACCACGGGCCGCCCCCCGGTGC	0.733													2	4	---	---	---	---					
FDFT1	2222	broad.mit.edu	37	8	11679330	11679332	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr8:11679330_11679332delCAT	ENST00000220584.4	+	4	675_677	c.453_455delCAT	c.(451-456)ggt>gg	p.GI151del	FDFT1_ENST00000525900.1_In_Frame_Del_p.GI144del|FDFT1_ENST00000538689.1_In_Frame_Del_p.GI40del|FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000443614.2_Intron|FDFT1_ENST00000525777.1_In_Frame_Del_p.GI66del|FDFT1_ENST00000530664.1_In_Frame_Del_p.GI87del|FDFT1_ENST00000528643.1_In_Frame_Del_p.GI66del|FDFT1_ENST00000528812.1_In_Frame_Del_p.GI87del	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	151					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		GGAGAATGGGCATTGGGATGGCA	0.429													7	304	---	---	---	---					
TMEM68	137695	broad.mit.edu	37	8	56675226	56675227	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr8:56675226_56675227insT	ENST00000434581.2	-	3	491_492	c.292_293insA	c.(292-294)tctfs	p.S98fs	TMEM68_ENST00000523073.1_Intron|TMEM68_ENST00000519784.1_Intron|TMEM68_ENST00000522576.1_Frame_Shift_Ins_p.S98fs|TMEM68_ENST00000521229.1_Frame_Shift_Ins_p.S98fs|TMEM68_ENST00000334667.2_Frame_Shift_Ins_p.S98fs			Q96MH6	TMM68_HUMAN	transmembrane protein 68	98						integral to membrane	acyltransferase activity			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			ATCCCACAGAGTTGCCACTGTT	0.401													251	362	---	---	---	---					
TG	7038	broad.mit.edu	37	8	133923643	133923657	+	In_Frame_Del	DEL	GTTTCCATTCCTGTC	GTTTCCATTCCTGTC	-	rs147183756		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr8:133923643_133923657delGTTTCCATTCCTGTC	ENST00000220616.4	+	19	4064_4078	c.4024_4038delGTTTCCATTCCTGTC	c.(4024-4038)del	p.VSIPV1342del	TG_ENST00000377869.1_In_Frame_Del_p.VSIPV1342del	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1342					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGGCACCCTGGTTTCCATTCCTGTCTGCAACAACT	0.488													171	434	---	---	---	---					
NFIL3	4783	broad.mit.edu	37	9	94172237	94172238	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr9:94172237_94172238insG	ENST00000297689.3	-	2	1173_1174	c.779_780insC	c.(778-780)cctfs	p.P260fs		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	260					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						CTTGCAGTAGTGGGGGAGAGTG	0.505													13	1168	---	---	---	---					
HDHD3	81932	broad.mit.edu	37	9	116136194	116136195	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr9:116136194_116136195insC	ENST00000238379.5	-	2	1337_1338	c.440_441insG	c.(439-441)gctfs	p.A147fs	HDHD3_ENST00000485934.1_5'UTR|HDHD3_ENST00000374180.3_Frame_Shift_Ins_p.A147fs	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	147							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						GCAGGCCAAGGCCCCCCAGGAT	0.639													10	314	---	---	---	---					
GFI1B	8328	broad.mit.edu	37	9	135865199	135865200	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr9:135865199_135865200insGC	ENST00000339463.3	+	10	1538_1539	c.719_720insGC	c.(718-720)catfs	p.H240fs	GFI1B_ENST00000372122.1_Frame_Shift_Ins_p.H240fs|GFI1B_ENST00000372123.1_Frame_Shift_Ins_p.H194fs|GFI1B_ENST00000534944.1_Frame_Shift_Ins_p.H194fs|GFI1B_ENST00000372124.1_Frame_Shift_Ins_p.H194fs|GFI1B_ENST00000450530.1_Frame_Shift_Ins_p.H240fs			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	240	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		ACCCACCTGCTCATCCACTCAG	0.629													11	70	---	---	---	---					
PTEN	5728	broad.mit.edu	37	10	89692920	89692921	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr10:89692920_89692921insA	ENST00000371953.3	+	5	1761_1762	c.404_405insA	c.(403-405)atgfs	p.M135fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	135	Phosphatase tensin-type.		I -> V (in BZS).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.I135fs*44(3)|p.I135K(3)|p.I135fs*45(3)|p.Y27fs*1(2)|p.I135_A137>T(1)|p.I135del(1)|p.I135fs*6(1)|p.A121_F145del(1)|p.I135fs*12(1)|p.I135M(1)|p.T131fs*42(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGTGTAATGATATGTGCATATT	0.386		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			171	156	---	---	---	---					
OR52E4	390081	broad.mit.edu	37	11	5905552	5905553	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:5905552_5905553insC	ENST00000316987.2	+	1	52_53	c.30_31insC	c.(28-33)taccccfs	p.YP10fs		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCACTTCTATCCCCCCTTCTT	0.441													10	614	---	---	---	---					
DNM1L	10059	broad.mit.edu	37	12	32863894	32863894	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:32863894delT	ENST00000452533.2	+	5	565	c.401delT	c.(400-402)atfs	p.I134fs	DNM1L_ENST00000549701.1_Frame_Shift_Del_p.I134fs|DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000358214.5_Frame_Shift_Del_p.I147fs|DNM1L_ENST00000547312.1_Frame_Shift_Del_p.I134fs|DNM1L_ENST00000266481.6_Frame_Shift_Del_p.I134fs|DNM1L_ENST00000381000.4_Frame_Shift_Del_p.I147fs|DNM1L_ENST00000553257.1_Frame_Shift_Del_p.I147fs	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	134	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CATCTTAAGATTTTTTCACCC	0.318													91	121	---	---	---	---					
PFKM	5213	broad.mit.edu	37	12	48537576	48537576	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:48537576delT	ENST00000340802.6	+	21	2296	c.2072delT	c.(2071-2073)ggfs	p.V691fs	PFKM_ENST00000551804.1_Frame_Shift_Del_p.V589fs|PFKM_ENST00000395233.2_Frame_Shift_Del_p.V589fs|PFKM_ENST00000312352.7_Frame_Shift_Del_p.V620fs|PFKM_ENST00000547587.1_Frame_Shift_Del_p.V620fs|PFKM_ENST00000359794.5_Frame_Shift_Del_p.V620fs	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	620					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						AAAACAACTGTGAAAAGGGGC	0.393													7	444	---	---	---	---					
KRT5	3852	broad.mit.edu	37	12	52910538	52910539	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:52910538_52910539delTT	ENST00000252242.4	-	7	1711_1712	c.1321_1322delAA	c.(1321-1323)gfs	p.K441fs		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	441	Coil 2.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGCTTGGCCTTCTGCAGGGCC	0.639													29	727	---	---	---	---					
TARBP2	6895	broad.mit.edu	37	12	53898183	53898184	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:53898183_53898184insC	ENST00000266987.2	+	5	908_909	c.425_426insC	c.(424-426)accfs	p.T142fs	TARBP2_ENST00000456234.2_Frame_Shift_Ins_p.T121fs|TARBP2_ENST00000552857.1_Frame_Shift_Ins_p.T51fs|TARBP2_ENST00000394357.2_Frame_Shift_Ins_p.T121fs	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	142					miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						TCCTTCAGGAGCCCCCCCATGG	0.564													9	169	---	---	---	---					
IRF9	10379	broad.mit.edu	37	14	24633132	24633134	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr14:24633132_24633134delAGC	ENST00000396864.3	+	5	828_830	c.541_543delAGC	c.(541-543)del	p.S187del	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_In_Frame_Del_p.S85del	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	187	Poly-Ser.				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AGACATTGGGagcagcagcagca	0.567													8	462	---	---	---	---					
SNORD114-7	767583	broad.mit.edu	37	14	101429467	101429468	+	RNA	INS	-	-	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr14:101429467_101429468insA	ENST00000423708.3	+	0	736				SNORD114-7_ENST00000362520.1_RNA																							CTGAGGTTAGTACCTAGACAGA	0.381													34	26	---	---	---	---					
RASGRP1	10125	broad.mit.edu	37	15	38852203	38852203	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:38852203delT	ENST00000310803.5	-	2	216	c.39delA	c.(37-39)aafs	p.K13fs	RASGRP1_ENST00000539159.1_5'UTR|RASGRP1_ENST00000450598.2_Frame_Shift_Del_p.K13fs|RASGRP1_ENST00000561180.1_Frame_Shift_Del_p.K64fs|RASGRP1_ENST00000558164.1_Frame_Shift_Del_p.K13fs|RASGRP1_ENST00000559830.1_Frame_Shift_Del_p.K13fs	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	13					cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CATGGGAAGGTTTCCTGGGGA	0.552													19	23	---	---	---	---					
TTBK2	146057	broad.mit.edu	37	15	43044816	43044817	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:43044816_43044817insT	ENST00000267890.6	-	14	2735_2736	c.2627_2628insA	c.(2626-2628)aaafs	p.K876fs		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	876					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TAGATATCTTATTTTTTTGCAT	0.406													7	419	---	---	---	---					
TUBGCP4	27229	broad.mit.edu	37	15	43687861	43687862	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:43687861_43687862insT	ENST00000564079.1	+	11	1386_1387	c.1146_1147insT	c.(1144-1149)accaccfs	p.T383fs	TUBGCP4_ENST00000260383.7_Frame_Shift_Ins_p.T383fs|TUBGCP4_ENST00000399460.3_Frame_Shift_Ins_p.T247fs	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	383					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TGTTGAAAACACCACCCACTGC	0.431													16	1872	---	---	---	---					
SECISBP2L	9728	broad.mit.edu	37	15	49292068	49292069	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:49292068_49292069insT	ENST00000559471.1	-	16	2627_2628	c.2364_2365insA	c.(2362-2367)ccttagfs	p.*789fs	SECISBP2L_ENST00000261847.3_Frame_Shift_Ins_p.*744fs	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	789										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						ACTACGCTAACAGGAACCAGCT	0.450													159	341	---	---	---	---					
NPIPB11	728888	broad.mit.edu	37	16	29395346	29395346	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:29395346delT	ENST00000524087.1	-	8	981	c.907delA	c.(907-909)cafs	p.T303fs	SNX29P2_ENST00000398878.3_lincRNA					nuclear pore complex interacting protein family, member B11																		TCGGGAGGTGTCTTGAGATTA	0.572													17	67	---	---	---	---					
SRCAP	10847	broad.mit.edu	37	16	30715515	30715516	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:30715515_30715516insC	ENST00000262518.4	+	4	570_571	c.185_186insC	c.(184-186)gccfs	p.A62fs	SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.A62fs|SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.A62fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	62					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)			GGACCTCCAGGCCCCCCAGATG	0.624													7	215	---	---	---	---					
KIAA0895L	653319	broad.mit.edu	37	16	67213789	67213790	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:67213789_67213790insC	ENST00000290881.7	-	4	1568_1569	c.642_643insG	c.(640-645)ggagctfs	p.A215fs	KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Frame_Shift_Ins_p.A215fs|KIAA0895L_ENST00000561621.1_Frame_Shift_Ins_p.A215fs			Q68EN5	K895L_HUMAN	KIAA0895-like	215										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GTGAGCAGCTGCCCCCCAGTGG	0.569													8	188	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578396	7578397	+	Frame_Shift_Ins	INS	-	-	T	rs68130327		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:7578396_7578397insT	ENST00000420246.2	-	5	665_666	c.533_534insA	c.(532-534)ccafs	p.P178fs	TP53_ENST00000269305.4_Frame_Shift_Ins_p.P178fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.P178fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	178	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma).|H -> L (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P177_C182delPHHERC(8)|p.H179Y(8)|p.0?(8)|p.H178P(6)|p.H178Q(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.H178fs*3(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.H178H(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.R175_H178>X(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H178L(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGCGCTCATGGTGGGGGCAGCG	0.644		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			113	83	---	---	---	---					
DBF4B	80174	broad.mit.edu	37	17	42824551	42824552	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:42824551_42824552delCT	ENST00000315005.3	+	11	1069_1070	c.931_932delCT	c.(931-933)cfs	p.L311fs	DBF4B_ENST00000393547.2_Frame_Shift_Del_p.L311fs	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	311					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CTTCGAGGAGCTCCATGTGGTG	0.589													12	197	---	---	---	---					
USP36	57602	broad.mit.edu	37	17	76799860	76799861	+	Frame_Shift_Ins	INS	-	-	G	rs3088040	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:76799860_76799861insG	ENST00000312010.6	-	16	2740_2741	c.2416_2417insC	c.(2416-2418)gagfs	p.E806fs	USP36_ENST00000542802.2_Frame_Shift_Ins_p.E806fs|USP36_ENST00000449938.2_Intron	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	806			Q -> R (in dbSNP:rs3088040).		ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			AGAGGGGCTCTGGGGGGGCTCA	0.629													8	220	---	---	---	---					
DENND1C	79958	broad.mit.edu	37	19	6468935	6468936	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:6468935_6468936insC	ENST00000381480.2	-	20	1548_1549	c.1436_1437insG	c.(1435-1437)gtcfs	p.V479fs	DENND1C_ENST00000543576.1_Frame_Shift_Ins_p.V435fs	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	479						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CCCTCAGAGAGCCCCCCCTCTG	0.624													7	52	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9048248	9048248	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:9048248delG	ENST00000397910.4	-	5	33586	c.33383delC	c.(33382-33384)tafs	p.S11128fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11130	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						GGTGGCCATTGAAGGTGTGGT	0.502													10	795	---	---	---	---					
ZNF846	162993	broad.mit.edu	37	19	9869150	9869150	+	Frame_Shift_Del	DEL	T	T	-	rs118035535	by1000genomes	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:9869150delT	ENST00000397902.2	-	6	1016	c.603delA	c.(601-603)aafs	p.K201fs	ZNF846_ENST00000592859.1_Frame_Shift_Del_p.K72fs|ZNF846_ENST00000588267.1_Frame_Shift_Del_p.K72fs|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TCCAACAGTCTTTGCATTCAC	0.358													54	57	---	---	---	---					
NWD1	284434	broad.mit.edu	37	19	16860826	16860827	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:16860826_16860827insC	ENST00000524140.2	+	6	1791_1792	c.1373_1374insC	c.(1372-1374)tccfs	p.S458fs	NWD1_ENST00000379808.3_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000552788.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000549814.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000339803.6_Frame_Shift_Ins_p.S323fs|NWD1_ENST00000523826.1_Frame_Shift_Ins_p.S252fs	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	458	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCTCTCAACTGCCCCCCGAGGG	0.629													9	327	---	---	---	---					
CPAMD8	27151	broad.mit.edu	37	19	17013675	17013676	+	Splice_Site	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:17013675_17013676insG	ENST00000443236.1	-	35	4643		c.e35-2			NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8							extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GACATCAATCTGGGGGGTGTTG	0.634													7	232	---	---	---	---					
C19orf47	126526	broad.mit.edu	37	19	40834398	40834399	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:40834398_40834399insG	ENST00000582783.1	-	6	483_484	c.471_472insC	c.(469-474)ccggcgfs	p.A158fs	C19orf47_ENST00000392035.2_Frame_Shift_Ins_p.A91fs	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	158										endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			TCCGGGCGCCTGGGGGGTGTGC	0.614													7	682	---	---	---	---					
B3GNT8	374907	broad.mit.edu	37	19	41932446	41932447	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:41932446_41932447insC	ENST00000321702.2	-	3	690_691	c.237_238insG	c.(235-240)cgtgggfs	p.G80fs	B3GNT8_ENST00000601379.1_Intron	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8	80					poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity			cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						AGGGACCCCAGCCGCCACTGCT	0.688													4	6	---	---	---	---					
NAPSA	9476	broad.mit.edu	37	19	50862305	50862306	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:50862305_50862306insC	ENST00000253719.2	-	8	1205_1206	c.997_998insG	c.(997-999)ctgfs	p.L333fs	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	333					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GTTAAACCAGACCCCCCCAAGA	0.530													7	194	---	---	---	---					
FRG1B	284802	broad.mit.edu	37	20	29624034	29624035	+	Frame_Shift_Ins	INS	-	-	G	rs73621649		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr20:29624034_29624035insG	ENST00000439954.2	+	4	419_420	c.73_74insG	c.(73-75)tgafs	p.*25fs	FRG1B_ENST00000278882.3_Intron|FRG1B_ENST00000358464.4_Intron																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TTTCTCCAATATTGATGAGGGC	0.287													2	4	---	---	---	---					
SOGA1	140710	broad.mit.edu	37	20	35443591	35443592	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr20:35443591_35443592insG	ENST00000237536.4	-	5	2594_2595	c.2253_2254insC	c.(2251-2256)cctgggfs	p.G752fs	SOGA1_ENST00000456801.2_Frame_Shift_Ins_p.G355fs|SOGA1_ENST00000357779.3_Frame_Shift_Ins_p.G514fs|SOGA1_ENST00000279034.5_Frame_Shift_Ins_p.G514fs	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	514										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TGGGAGCCCAAGGGGGGCAGTG	0.535													7	636	---	---	---	---					
PARD6B	84612	broad.mit.edu	37	20	49366718	49366719	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr20:49366718_49366719delAC	ENST00000371610.2	+	3	1055_1056	c.812_813delAC	c.(811-813)afs	p.N271fs	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	271					axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						TCTACTGATAACAGCCTTCTTG	0.470													119	214	---	---	---	---					
YTHDF1	54915	broad.mit.edu	37	20	61833738	61833738	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr20:61833738delT	ENST00000370339.3	-	4	1895	c.1554delA	c.(1552-1554)cafs	p.Q518fs	YTHDF1_ENST00000370333.4_Frame_Shift_Del_p.Q468fs|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	518	YTH.									NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTTTCAGCACTTGCTTGGCTT	0.532													9	112	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11038792	11038793	+	RNA	INS	-	-	T	rs8175341		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr21:11038792_11038793insT	ENST00000470054.1	-	0	1410_1411									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACCCATGCCAGTTTTTTGGAGT	0.416													7	962	---	---	---	---					
PSMG1	8624	broad.mit.edu	37	21	40550409	40550409	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr21:40550409delT	ENST00000331573.3	-	5	1086	c.621delA	c.(619-621)gafs	p.E207fs	PSMG1_ENST00000380900.2_Frame_Shift_Del_p.E186fs	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	207					proteasome assembly	endoplasmic reticulum	protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				TATTCGGTTGTTCTAGCAATG	0.388													27	116	---	---	---	---					
ZBTB21	49854	broad.mit.edu	37	21	43411090	43411098	+	In_Frame_Del	DEL	ATGTGATTG	ATGTGATTG	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr21:43411090_43411098delATGTGATTG	ENST00000310826.5	-	3	3290_3298	c.3107_3115delCAATCACAT	c.(3106-3117)gtt>g	p.AITF1036del	ZBTB21_ENST00000398505.3_In_Frame_Del_p.AITF835del|ZBTB21_ENST00000398499.1_In_Frame_Del_p.AITF1036del|ZBTB21_ENST00000398511.3_In_Frame_Del_p.AITF1036del	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		TGTCTTTTAAATGTGATTGCTGAAAGGGG	0.440													26	82	---	---	---	---					
TOM1	10043	broad.mit.edu	37	22	35730352	35730352	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr22:35730352delG	ENST00000411850.1	+	11	1184	c.1059delG	c.(1057-1059)ctfs	p.L353fs	TOM1_ENST00000447733.1_Frame_Shift_Del_p.L320fs|TOM1_ENST00000436462.2_Frame_Shift_Del_p.L315fs|TOM1_ENST00000425375.1_Frame_Shift_Del_p.L308fs|TOM1_ENST00000449058.2_Frame_Shift_Del_p.L353fs|TOM1_ENST00000382034.5_3'UTR	NM_001135732.1	NP_001129204.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	353					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						GAGCTGGCCTGCAGTCTCTGG	0.582													9	111	---	---	---	---					
TMPRSS6	164656	broad.mit.edu	37	22	37466612	37466612	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr22:37466612delG	ENST00000381792.2	-	15	1893	c.1753delC	c.(1753-1755)tcfs	p.L585fs	TMPRSS6_ENST00000406856.1_Frame_Shift_Del_p.L585fs|TMPRSS6_ENST00000346753.3_Frame_Shift_Del_p.L594fs|TMPRSS6_ENST00000406725.1_Frame_Shift_Del_p.L585fs			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	594	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CGAACCTGGAGGCTGGCCTGC	0.672													8	24	---	---	---	---					
GAGE10	643832	broad.mit.edu	37	X	49161392	49161393	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chrX:49161392_49161393insC	ENST00000407599.3	+	2	147_148	c.54_55insC	c.(52-57)gaccccfs	p.DP18fs		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	18										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					TCTATGTAGAGCCCCCTGAAAT	0.421													7	575	---	---	---	---					
NHSL2	340527	broad.mit.edu	37	X	71360110	71360111	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chrX:71360110_71360111insC	ENST00000373677.1	+	2	2876_2877	c.1614_1615insC	c.(1612-1617)atccccfs	p.IP538fs	NHSL2_ENST00000540800.1_Frame_Shift_Ins_p.IP904fs|NHSL2_ENST00000510661.1_Frame_Shift_Ins_p.IP673fs|NHSL2_ENST00000535692.1_Frame_Shift_Ins_p.IP538fs			F5H593	F5H593_HUMAN	NHS-like 2	904										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CCTTGGCTATGCCCCCCAGGAG	0.574													7	155	---	---	---	---					
