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
RNASE2	6036	broad.mit.edu	37	14	21424080	21424080	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:21424080C>T	ENST00000304625.2	+	2	240	c.150C>T	c.(148-150)tgC>tgT	p.C50C		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	50					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		CCCAGCAATGCACCAATGCAA	0.438000													4	210					0	0	1	0	0
CCDC91	55297	broad.mit.edu	37	12	28458580	28458580	+	Splice_Site	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:28458580A>T	ENST00000545336.1	+	7	528		c.e7-1		CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site|CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000381256.1_Splice_Site			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91						protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GTTTTTCTTTAGTATCTGGAG	0.393000													8	465					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43323361	43323361	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:43323361G>A	ENST00000361428.2	-	4	1788	c.1711C>T	c.(1711-1713)Ccg>Tcg	p.P571S	ZNF318_ENST00000318149.3_Missense_Mutation_p.P571S	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	571					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)			GCTGAAGACGGCAGGGAGCTT	0.478000													6	538					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36069579	36069579	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:36069579G>A	ENST00000303965.4	-	33	5554	c.5065C>T	c.(5065-5067)Cgg>Tgg	p.R1689W		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1689					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GTTCTTGACCGTTGTAGAACC	0.358000													4	244					0	0	1	0	0
NUCB2	4925	broad.mit.edu	37	11	17323307	17323307	+	Missense_Mutation	SNP	A	A	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:17323307A>C	ENST00000529010.1	+	5	488	c.269A>C	c.(268-270)aAa>aCa	p.K90T	NUCB2_ENST00000323688.6_Missense_Mutation_p.K90T|NUCB2_ENST00000458064.2_Missense_Mutation_p.K90T	NM_005013.2	NP_005004.1	P80303	NUCB2_HUMAN	nucleobindin 2	90						cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGGCTAAGCAAAGAACTGGAT	0.328000													4	267					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154560618	154560618	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:154560618C>T	ENST00000368474.4	-	11	3201	c.3002G>A	c.(3001-3003)cGc>cAc	p.R1001H	ADAR_ENST00000292205.5_Missense_Mutation_p.R1044H|ADAR_ENST00000368471.3_Missense_Mutation_p.R706H	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1001	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CACCTTGGTGCGGAGCTTTCC	0.562000													7	485					0	0	1	0	0
KANSL1L	151050	broad.mit.edu	37	2	211019250	211019250	+	Silent	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:211019250T>C	ENST00000281772.9	-	2	320	c.57A>G	c.(55-57)ccA>ccG	p.P19P	KANSL1L_ENST00000457374.1_Silent_p.P19P|KANSL1L_ENST00000452086.1_Silent_p.P19P|KANSL1L_ENST00000418791.1_Silent_p.P19P|KANSL1L_ENST00000429908.2_5'UTR	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	19																	CCATGGTACTTGGCAAAGATG	0.433000													4	171					0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148012533	148012533	+	Missense_Mutation	SNP	T	T	G	rs144977899		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													10	298					0	0	1	0	0
DIS3	22894	broad.mit.edu	37	13	73335578	73335578	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr13:73335578G>T	ENST00000377767.4	-	19	2693	c.2593C>A	c.(2593-2595)Cca>Aca	p.P865T	DIS3_ENST00000545453.1_Missense_Mutation_p.P703T|DIS3_ENST00000377780.4_Missense_Mutation_p.P835T	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	865					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CCATACTTTGGAATTAATACC	0.318000										Multiple Myeloma(4;0.011)			12	66					1.36491e-13	1.58169e-13	1	1	0
RNF40	9810	broad.mit.edu	37	16	30780684	30780684	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:30780684G>A	ENST00000324685.6	+	16	2860	c.2425G>A	c.(2425-2427)Gag>Aag	p.E809K	RNF40_ENST00000357890.5_Missense_Mutation_p.E709K|RNF40_ENST00000563683.1_Missense_Mutation_p.E769K|RNF40_ENST00000402121.3_Missense_Mutation_p.E501K|RNF40_ENST00000567365.1_3'UTR	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	809					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GGAGAAGGATGAGTTGGGCGA	0.582000													6	78					0	0	1	0	0
CD8A	925	broad.mit.edu	37	2	87013077	87013077	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:87013077C>T	ENST00000409511.2	-	9	1704	c.674G>A	c.(673-675)gGa>gAa	p.G225E	CD8A_ENST00000409781.1_Missense_Mutation_p.G188E|CD8A_ENST00000283635.3_Missense_Mutation_p.G225E|CD8A_ENST00000352580.3_Missense_Mutation_p.G188E|CD8A_ENST00000538832.1_Missense_Mutation_p.G266E|CD8A_ENST00000456996.2_Missense_Mutation_p.G188E	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	225					antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GGGCTTGTCTCCCGATTTGAC	0.542000													6	150					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125850328	125850328	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:125850328C>T	ENST00000393434.2	-	13	1871	c.1522G>A	c.(1522-1524)Gcc>Acc	p.A508T	ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A518T|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A508T|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A407T|ALDH1L1_ENST00000393431.2_Intron	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	508	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCATCCAGGGCCTCAATGGTG	0.637000													5	71					0	0	1	0	0
DPH7	92715	broad.mit.edu	37	9	140469236	140469236	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr9:140469236C>T	ENST00000277540.2	-	4	592	c.435G>A	c.(433-435)ttG>ttA	p.L145L	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1			diphthamide biosynthesis 7																		AATCTAGGGACAAAGCCAGAC	0.537000													14	91					0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9077401	9077401	+	Silent	SNP	A	A	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:9077401A>G	ENST00000457346.2	-	10	1220	c.1146T>C	c.(1144-1146)ccT>ccC	p.P382P	SCUBE2_ENST00000450649.2_Silent_p.P382P|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Silent_p.P382P|SCUBE2_ENST00000309263.3_Silent_p.P382P			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	382	EGF-like 8; calcium-binding (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CAAATGTGCCAGGGTGGTTGA	0.552000													8	663					0	0	1	0	0
TPGS2	25941	broad.mit.edu	37	18	34380218	34380218	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr18:34380218G>A	ENST00000334295.4	-	5	866	c.439C>T	c.(439-441)Ctg>Ttg	p.L147L	TPGS2_ENST00000383056.3_Silent_p.L104L|TPGS2_ENST00000587129.1_Silent_p.L147L|TPGS2_ENST00000590652.1_5'UTR|TPGS2_ENST00000593035.1_Silent_p.L112L|TPGS2_ENST00000589049.1_Silent_p.L147L|TPGS2_ENST00000590842.1_Silent_p.L147L	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	147						cytoplasm|microtubule											CATGAATCCAGCTCAAATATC	0.448000													5	946					0	0	1	0	0
PHKG2	5261	broad.mit.edu	37	16	30762868	30762868	+	Splice_Site	SNP	A	A	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:30762868A>G	ENST00000563588.1	+	4	510		c.e4-1		PHKG2_ENST00000328273.7_Splice_Site|PHKG2_ENST00000424889.3_Splice_Site	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)						glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)|skin(1)	2			Colorectal(24;0.198)			CTCTCTCCCTAGTCACCCTCA	0.552000													4	492					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182853842	182853842	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:182853842G>A	ENST00000367549.3	+	27	3465	c.3355G>A	c.(3355-3357)Gct>Act	p.A1119T	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1119					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						CAAACAACCTGCTATCATCAG	0.473000													4	106					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37188240	37188240	+	RNA	SNP	C	C	T	rs34700711	by1000genomes	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:37188240C>T	ENST00000425901.2	+	0	2082					NR_033753.2																						ACAGTTCAACCTCTGGACCTG	0.512000													4	113					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71498410	71498410	+	Splice_Site	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:71498410G>A	ENST00000396073.3	+	5	491		c.e5+1			NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin						bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CGGCCCACATGTAAGTTTTTC	0.318000													5	444					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50226667	50226667	+	Missense_Mutation	SNP	G	G	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:50226667G>C	ENST00000338821.5	-	24	2873	c.2609C>G	c.(2608-2610)cCt>cGt	p.P870R	ATP9A_ENST00000311637.5_Missense_Mutation_p.P734R|ATP9A_ENST00000402822.1_Missense_Mutation_p.P749R	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	870					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTGATAGAGAGGGACGGAGGC	0.423000													5	132					0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164776859	164776859	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:164776859C>T	ENST00000420696.2	+	5	970	c.782C>T	c.(781-783)cCc>cTc	p.P261L	PBX1_ENST00000540236.1_Missense_Mutation_p.P261L|PBX1_ENST00000559240.1_Missense_Mutation_p.P261L|PBX1_ENST00000367897.1_Missense_Mutation_p.P261L|PBX1_ENST00000401534.1_Missense_Mutation_p.P261L|PBX1_ENST00000560641.1_Missense_Mutation_p.P156L|PBX1_ENST00000540246.1_Missense_Mutation_p.P156L	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	261					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						AACCCTTACCCCAGTGAGGAA	0.488000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								4	172					0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75301423	75301423	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:75301423C>T	ENST00000339859.4	-	7	746	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	USP54_ENST00000497106.1_5'UTR|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000408019.1_Missense_Mutation_p.A216T|USP54_ENST00000319786.7_Missense_Mutation_p.A216T|USP54_ENST00000428547.1_Intron			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	216					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ATGGTGCTGGCATTCTGCAGC	0.498000													32	106					0	0	1	0	0
ZNF749	388567	broad.mit.edu	37	19	57956010	57956010	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:57956010G>A	ENST00000334181.4	+	3	1744	c.1494G>A	c.(1492-1494)ctG>ctA	p.L498L	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		AGGCTCATCTGGTTGGTCACC	0.458000													4	225					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117392010	117392010	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:117392010G>A	ENST00000321322.6	-	6	1229	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R140C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	350	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCCGTGTTGCGATACCAGCGG	0.627000													18	85					0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1333710	1333710	+	Missense_Mutation	SNP	C	C	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:1333710C>G	ENST00000400809.3	-	3	381	c.376G>C	c.(376-378)Gcc>Ccc	p.A126P	CCNL2_ENST00000408918.4_Missense_Mutation_p.A126P	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	126	Cyclin-like 1.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TGGACACAGGCCATTGACACA	0.557000													3	53					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183495729	183495729	+	Splice_Site	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:183495729A>T	ENST00000367537.3	+	6	594		c.e6-1		SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000347615.2_Splice_Site|SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000507406.1_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													4	86					0	0	1	0	0
ZNF749	388567	broad.mit.edu	37	19	57956012	57956012	+	Missense_Mutation	SNP	T	T	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:57956012T>A	ENST00000334181.4	+	3	1746	c.1496T>A	c.(1495-1497)gTt>gAt	p.V499D	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GCTCATCTGGTTGGTCACCAG	0.458000													4	222					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255477	15255477	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:15255477G>A	ENST00000378116.4	-	8	2116	c.2110C>T	c.(2110-2112)Cac>Tac	p.H704Y		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	704						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GCCCGGGGGTGCGGAAGCGGC	0.562000													26	89					0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102712941	102712941	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:102712941C>A	ENST00000299855.5	-	4	825	c.569G>T	c.(568-570)gGg>gTg	p.G190V		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	190					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	TCCATTAATCCCTGGCCCAGG	0.383000													3	102					6.4e-05	7.00444e-05	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141571365	141571365	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:141571365T>C	ENST00000389484.3	-	32	6191	c.5220A>G	c.(5218-5220)atA>atG	p.I1740M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1740					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCACATAGTCTATCGATAGAC	0.343000										TSP Lung(27;0.18)			3	79					0	0	1	0	0
FAM134A	79137	broad.mit.edu	37	2	220045807	220045807	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:220045807C>T	ENST00000430297.2	+	6	800	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	222						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGTGGCCCCTGGTGGTTTA	0.527000													6	99					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85642588	85642588	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:85642588G>A	ENST00000322366.6	-	46	7935	c.7528C>T	c.(7528-7530)Ctg>Ttg	p.L2510L	WDFY3_ENST00000295888.4_Silent_p.L2527L			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2527						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AACAGGCGCAGTAAGGTAGCA	0.428000													4	379					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57114554	57114554	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:57114554C>A	ENST00000454682.1	-	3	1041	c.760G>T	c.(760-762)Gtt>Ttt	p.V254F	NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.V254F|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_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						GAAATCAGAACTGAGGAAATG	0.517000			T	BCL6	NHL								4	318					0.150653	0.152983	1	1	0
C6orf10	10665	broad.mit.edu	37	6	32260989	32260989	+	Silent	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:32260989T>C	ENST00000375015.4	-	26	1658	c.1458A>G	c.(1456-1458)caA>caG	p.Q486Q	C6orf10_ENST00000527965.1_Silent_p.Q471Q|C6orf10_ENST00000447241.2_Silent_p.Q487Q|C6orf10_ENST00000442822.2_Intron|C6orf10_ENST00000375007.4_Silent_p.Q485Q|C6orf10_ENST00000533191.1_Silent_p.Q485Q			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	487	Lys-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CCTTCTTTTCTTGGGCTTCCT	0.378000													86	378					0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68608017	68608017	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:68608017C>A	ENST00000234313.7	+	3	540	c.361C>A	c.(361-363)Cca>Aca	p.P121T		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	121					actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		CATTCGACTGCCAGAAACCAT	0.453000													4	268					0.00116845	0.00123755	1	1	0
NSUN3	63899	broad.mit.edu	37	3	93802958	93802958	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:93802958C>A	ENST00000314622.4	+	3	341	c.130C>A	c.(130-132)Cta>Ata	p.L44I		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	44							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						TAGGGAGATACTAACATCTCC	0.333000													3	78					1	1	1	1	0
MYH11	4629	broad.mit.edu	37	16	15842021	15842021	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:15842021C>T	ENST00000338282.6	-	17	2169	c.2063G>A	c.(2062-2064)gGc>gAc	p.G688D	MYH11_ENST00000576790.1_Missense_Mutation_p.G688D|MYH11_ENST00000300036.5_Missense_Mutation_p.G688D|MYH11_ENST00000452625.2_Missense_Mutation_p.G695D|MYH11_ENST00000396324.3_Missense_Mutation_p.G695D	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	688	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ATCCAGCTTGCCGGACTGCAA	0.627000			T	CBFB	AML								4	190					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7757697	7757697	+	Missense_Mutation	SNP	A	A	G	rs138503341	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:7757697A>G	ENST00000338316.4	+	16	2181	c.2092A>G	c.(2092-2094)Atg>Gtg	p.M698V	ADCY2_ENST00000537121.1_Missense_Mutation_p.M518V	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	698					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.?(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CGTGTTCAACATGGTAAGTCC	0.542000													6	309					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236740143	236740143	+	Silent	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:236740143C>A	ENST00000366582.3	-	21	2976	c.2862G>T	c.(2860-2862)ctG>ctT	p.L954L	HEATR1_ENST00000366581.2_Silent_p.L954L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	954					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)			GATCTATTATCAGATAAAACG	0.443000													4	112					0.150653	0.152983	1	1	0
SRL	6345	broad.mit.edu	37	16	4242615	4242615	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:4242615C>T	ENST00000399609.3	-	6	973	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	SRL_ENST00000537996.1_Missense_Mutation_p.V279M	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	780	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						TTCTCGATCACCTGATTCAGG	0.547000													122	364					0	0	1	0	0
RMI2	116028	broad.mit.edu	37	16	11444621	11444621	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:11444621G>T	ENST00000572173.1	+	5	874	c.229G>T	c.(229-231)Gaa>Taa	p.E77*	RMI2_ENST00000381820.2_Nonsense_Mutation_p.E77*|RMI2_ENST00000576027.1_3'UTR|RMI2_ENST00000312499.5_Nonsense_Mutation_p.E140*			Q96E14	RMI2_HUMAN	RecQ mediated genome instability 2	140					DNA replication	nucleus	DNA binding			endometrium(1)|kidney(1)|ovary(1)	3						ACTGGAGGTAGAAGATTTACA	0.428000													13	285					1.61879e-10	1.84336e-10	1	1	0
PKP2	5318	broad.mit.edu	37	12	32996124	32996124	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:32996124T>C	ENST00000070846.6	-	6	1526	c.1502A>G	c.(1501-1503)gAc>gGc	p.D501G	PKP2_ENST00000340811.4_Intron	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	501					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					accatgttggtcaggctggtc	0.582000													8	181					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94693450	94693450	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:94693450G>A	ENST00000282020.4	+	16	3083	c.2825G>A	c.(2824-2826)cGc>cAc	p.R942H	GRID2_ENST00000510992.1_Missense_Mutation_p.R847H	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	942	Interaction with AP4M1 (By similarity).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ACTCTTAGCCGCACACTGTCA	0.493000													5	294					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34095955	34095955	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:34095955G>A	ENST00000397527.1	+	32	7562	c.6842G>A	c.(6841-6843)cGg>cAg	p.R2281Q	CEP250_ENST00000342580.4_Missense_Mutation_p.R2225Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2281					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCAGTGGCCCGGCTGGAGATT	0.582000													5	531					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123109143	123109143	+	Splice_Site	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:123109143A>T	ENST00000333479.7	+	63	6692		c.e63-1		KNTC1_ENST00000450485.2_Splice_Site|KNTC1_ENST00000534995.1_Splice_Site|KNTC1_ENST00000436959.3_Splice_Site|HCAR1_ENST00000356987.2_Intron|KNTC1_ENST00000537348.1_Splice_Site	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1						cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTGATTTTGTAGTTTAGATGA	0.463000													4	74					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50828642	50828642	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:50828642C>T	ENST00000395562.2	+	5	904	c.435C>T	c.(433-435)ggC>ggT	p.G145G	CHAT_ENST00000339797.1_Silent_p.G109G|CHAT_ENST00000337653.2_Silent_p.G227G|CHAT_ENST00000351556.3_Silent_p.G109G|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000455728.2_Silent_p.G109G|CHAT_ENST00000395559.2_Silent_p.G109G	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	227					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	ACTTCCCTGGCACCGATGACC	0.597000													5	218					0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32635105	32635105	+	Missense_Mutation	SNP	G	G	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:32635105G>C	ENST00000335185.5	-	16	2802	c.2759C>G	c.(2758-2760)aCa>aGa	p.T920R		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	920										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					ACTGCTCGCTGTTTGACTTTC	0.373000													5	291					0	0	1	0	0
MORC4	79710	broad.mit.edu	37	X	106186409	106186409	+	Missense_Mutation	SNP	T	T	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:106186409T>G	ENST00000355610.4	-	15	1986	c.1712A>C	c.(1711-1713)gAa>gCa	p.E571A	MORC4_ENST00000255495.7_Missense_Mutation_p.E571A|MORC4_ENST00000535534.1_Missense_Mutation_p.E319A	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	571							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						CTCCACCGGTTCTTCACCTAG	0.438000													12	196					0	0	1	0	0
TRAF3IP1	26146	broad.mit.edu	37	2	239234537	239234537	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:239234537C>T	ENST00000373327.4	+	3	502	c.280C>T	c.(280-282)Cga>Tga	p.R94*	TRAF3IP1_ENST00000391994.2_Nonsense_Mutation_p.R94*|TRAF3IP1_ENST00000391993.3_Nonsense_Mutation_p.R94*	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	94	Abolishes microtubules-binding when missing.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		CAAACCAGCCCGAATCGTGGC	0.473000													4	210					0	0	1	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55048303	55048303	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:55048303C>T	ENST00000335056.3	+	5	908	c.870C>T	c.(868-870)ggC>ggT	p.G290G	KIR3DX1_ENST00000482404.1_3'UTR																endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		CAGTCCCTGGCGGGACCTATA	0.582000													6	159					0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	858848	858848	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:858848G>A	ENST00000381922.3	-	7	1278	c.1176C>T	c.(1174-1176)gcC>gcT	p.A392A	ANGPT4_ENST00000546022.1_Silent_p.A392A	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	392	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GTTCGTACTGGGCATAGGCCT	0.622000													4	217					0	0	1	0	0
NDUFV3	4731	broad.mit.edu	37	21	44324239	44324239	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr21:44324239G>T	ENST00000354250.2	+	3	1186	c.1117G>T	c.(1117-1119)Gat>Tat	p.D373Y	NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	0					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	AATCGTGGAAGATCAGATACC	0.572000													46	46					2.2618e-39	2.68418e-39	1	1	0
CCDC155	147872	broad.mit.edu	37	19	49900970	49900970	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:49900970G>A	ENST00000447857.3	+	6	668	c.463G>A	c.(463-465)Gag>Aag	p.E155K		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	155						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CCCCAGACCCGAGCTGTACCT	0.637000													5	266					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187630625	187630625	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:187630625T>C	ENST00000441802.2	-	2	566	c.357A>G	c.(355-357)atA>atG	p.I119M		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	119	Cadherin 1.				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						GTGCTTTCACTATCAATGTGT	0.408000										HNSCC(5;0.00058)			3	342					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154067513	154067513	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:154067513C>T	ENST00000368559.3	-	15	2156	c.2085G>A	c.(2083-2085)gcG>gcA	p.A695A	NUP210L_ENST00000271854.3_Silent_p.A695A	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	695						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTGTCTTCTCCGCATTCAATT	0.473000													5	30					0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101378874	101378874	+	Splice_Site	SNP	T	T	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:101378874T>A	ENST00000312938.4	-	6	2381		c.e6-2			NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTTACACAACTAAAAGAAAAA	0.323000													5	88					0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	22005036	22005036	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:22005036C>T	ENST00000327430.3	-	1	314	c.20G>A	c.(19-21)cGg>cAg	p.R7Q	SALL2_ENST00000317492.5_Missense_Mutation_p.R7Q	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	7							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TTGGGGTTTCCGCTGCTTTCG	0.627000													4	330					0	0	1	0	0
DEFB116	245930	broad.mit.edu	37	20	29891091	29891091	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:29891091G>T	ENST00000400549.1	-	2	232	c.233C>A	c.(232-234)tCt>tAt	p.S78Y		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	78					defense response to bacterium	extracellular region				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CACATTTTTAGAACTGGTTAT	0.403000													127	1703					5.19286e-32	6.08925e-32	1	1	0
SLC22A14	9389	broad.mit.edu	37	3	38347690	38347690	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:38347690C>T	ENST00000273173.4	+	1	264	c.173C>T	c.(172-174)gCg>gTg	p.A58V	SLC22A14_ENST00000448498.1_Missense_Mutation_p.A58V	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	58						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CTCCTGGATGCGGTGGGGGAG	0.537000													5	216					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124380739	124380739	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:124380739G>A	ENST00000338354.3	+	41	5170	c.5064G>A	c.(5062-5064)tcG>tcA	p.S1688S	DMBT1_ENST00000368955.3_Silent_p.S1678S|DMBT1_ENST00000368956.2_Silent_p.S1060S|DMBT1_ENST00000344338.3_Silent_p.S1678S|DMBT1_ENST00000368909.3_Silent_p.S1688S|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Silent_p.S1060S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1688	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGGCCATGTCGGCCCCAGGAA	0.612000													7	333					0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2698154	2698154	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:2698154C>A	ENST00000324666.5	+	16	2819	c.2468C>A	c.(2467-2469)aCc>aAc	p.T823N	FAM193A_ENST00000505311.1_Missense_Mutation_p.T823N|FAM193A_ENST00000545951.1_Missense_Mutation_p.T823N|FAM193A_ENST00000502458.1_Missense_Mutation_p.T845N|FAM193A_ENST00000382839.3_Missense_Mutation_p.T823N	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	823										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TTACGGCTGACCAAGAGGAAA	0.418000													4	145					0.00909568	0.00948068	1	1	0
ACSL3	2181	broad.mit.edu	37	2	223782762	223782762	+	Splice_Site	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:223782762A>T	ENST00000357430.3	+	6	1087		c.e6-1		AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Splice_Site	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3						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)	TTTTCCTTTTAGTTGTTACAT	0.358000			T	ETV1	prostate								5	116					0	0	1	0	0
DEPDC7	91614	broad.mit.edu	37	11	33050304	33050304	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:33050304G>T	ENST00000311388.3	+	4	1097	c.721G>T	c.(721-723)Gat>Tat	p.D241Y	DEPDC7_ENST00000241051.3_Missense_Mutation_p.D250Y	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	250					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TAACTATCTGGATCGAGGGAT	0.403000													11	143					7.03913e-09	7.87902e-09	1	1	0
PCLO	27445	broad.mit.edu	37	7	82545232	82545232	+	Missense_Mutation	SNP	T	T	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:82545232T>G	ENST00000423517.2	-	7	12407	c.12070A>C	c.(12070-12072)Agt>Cgt	p.S4024R	PCLO_ENST00000437081.1_Missense_Mutation_p.S744R|PCLO_ENST00000333891.8_Missense_Mutation_p.S4024R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3955					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GATATTGGACTGCTTGCCATG	0.383000													5	471					0	0	1	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40639318	40639318	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:40639318T>C	ENST00000343619.4	+	10	1079	c.956T>C	c.(955-957)tTg>tCg	p.L319S	ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.L276S|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.L326S|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.L319S|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.L319S|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.L276S	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	319					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CAGAAATGCTTGATTGCAGAG	0.517000													12	257					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29769544	29769544	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:29769544G>T	ENST00000375398.2	-	31	5748	c.5299C>A	c.(5299-5301)Ctc>Atc	p.L1767I	SVIL_ENST00000538146.1_Missense_Mutation_p.L559I|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.L681I|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.L1767I|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.L1341I			O95425	SVIL_HUMAN	supervillin	1767					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	p.L1767I(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGTTTGGGGAGCCTGCTATAG	0.547000													4	56					0.150653	0.152983	1	1	0
LDHAL6A	160287	broad.mit.edu	37	11	18497053	18497053	+	Silent	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:18497053T>C	ENST00000280706.2	+	4	1256	c.459T>C	c.(457-459)ttT>ttC	p.F153F	TSG101_ENST00000536719.1_Intron|LDHAL6A_ENST00000396213.3_Silent_p.F153F	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	153					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			large_intestine(3)|lung(9)|urinary_tract(1)	13					NADH(DB00157)	TGAGTGGATTTCCCAAAAACC	0.383000													4	197					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38938500	38938500	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:38938500G>A	ENST00000450244.1	-	14	2437	c.2239C>T	c.(2239-2241)Cgg>Tgg	p.R747W	SCN11A_ENST00000444237.2_Missense_Mutation_p.R747W|SCN11A_ENST00000456224.3_Missense_Mutation_p.R747W|SCN11A_ENST00000302328.3_Missense_Mutation_p.R747W			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	747					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R747W(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGCCAGTGCCGTAAACATGAG	0.488000													3	102					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184039116	184039116	+	Silent	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:184039116T>C	ENST00000342981.4	+	9	1158	c.744T>C	c.(742-744)ccT>ccC	p.P248P	EIF4G1_ENST00000411531.1_Silent_p.P208P|EIF4G1_ENST00000352767.3_Silent_p.P255P|EIF4G1_ENST00000434061.2_Silent_p.P52P|EIF4G1_ENST00000441154.1_Silent_p.P84P|EIF4G1_ENST00000350481.5_Silent_p.P84P|EIF4G1_ENST00000392537.2_Silent_p.P161P|EIF4G1_ENST00000319274.6_Silent_p.P248P|EIF4G1_ENST00000427845.1_Silent_p.P161P|EIF4G1_ENST00000424196.1_Silent_p.P255P|EIF4G1_ENST00000414031.1_Silent_p.P208P|EIF4G1_ENST00000382330.3_Silent_p.P255P|EIF4G1_ENST00000346169.2_Silent_p.P248P|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Silent_p.P52P	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	248					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGGGCTGCCTGGCCCAGAGC	0.567000													13	195					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2976082	2976082	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr8:2976082G>A	ENST00000520002.1	-	43	6827	c.6272C>T	c.(6271-6273)cCa>cTa	p.P2091L	CSMD1_ENST00000602723.1_Missense_Mutation_p.P2091L|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2091L|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2091L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2090L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2090L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2091	Sushi 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAATGGGGGTGGATCTGGACA	0.408000													3	84					0	0	1	0	0
QPCT	25797	broad.mit.edu	37	2	37586796	37586796	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:37586796C>T	ENST00000338415.3	+	3	499	c.341C>T	c.(340-342)cCc>cTc	p.P114L	QPCT_ENST00000537448.1_Missense_Mutation_p.P65L	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	114					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				AGTCAGACACCCTATGGGTAC	0.443000													66	43					0	0	1	0	0
HRH2	3274	broad.mit.edu	37	5	175110623	175110623	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:175110623G>A	ENST00000231683.2	+	1	2160	c.387G>A	c.(385-387)ctG>ctA	p.L129L	HRH2_ENST00000377291.2_Silent_p.L129L	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	129					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	p.L129L(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	ACCCTGTGCTGGTCACCCCAG	0.557000													4	320					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109379873	109379873	+	Missense_Mutation	SNP	C	C	T	rs150729745	by1000genomes	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr13:109379873C>T	ENST00000356711.2	+	4	509	c.383C>T	c.(382-384)aCg>aTg	p.T128M	MYO16_ENST00000357550.2_Missense_Mutation_p.T128M|MYO16_ENST00000251041.5_Missense_Mutation_p.T128M	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	128					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.T128M(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GACTTCTGGACGCCCATGCAC	0.418000													79	199					0	0	1	0	0
LMNB1	4001	broad.mit.edu	37	5	126156695	126156695	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:126156695G>A	ENST00000261366.5	+	7	1615	c.1254G>A	c.(1252-1254)agG>agA	p.R418R	LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	418	Tail.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		AGCGGAAGAGGGTTGATGTGG	0.478000													16	69					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42063104	42063104	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:42063104C>T	ENST00000395925.3	-	10	1544	c.1460G>A	c.(1459-1461)tGc>tAc	p.C487Y	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	487					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTCCCTCGCGCAGCCTTCCCA	0.532000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				4	175					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435766	158435766	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:158435766G>A	ENST00000289451.2	+	1	495	c.415G>A	c.(415-417)Ggg>Agg	p.G139R		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CATGGGACATGGGGTGTGTAT	0.552000													4	262					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4051776	4051776	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:4051776G>A	ENST00000404826.2	+	16	2468	c.2329G>A	c.(2329-2331)Gcc>Acc	p.A777T	SDK1_ENST00000389531.3_Missense_Mutation_p.A777T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	777	Fibronectin type-III 2.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AAATATAGTGGCCAGTGGGCG	0.517000													7	778					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62291443	62291443	+	Missense_Mutation	SNP	G	G	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:62291443G>C	ENST00000378024.4	-	5	10720	c.10446C>G	c.(10444-10446)ttC>ttG	p.F3482L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3482					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)				CAGACACACTGAATTTGGGCA	0.453000													10	100					0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127486938	127486938	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:127486938C>T	ENST00000262461.2	+	14	2302	c.2113C>T	c.(2113-2115)Cgt>Tgt	p.R705C	SLC12A2_ENST00000343225.4_Missense_Mutation_p.R705C	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	705					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTTAGGATGGCGTCCTGCATT	0.348000													19	167					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50408873	50408873	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:50408873G>A	ENST00000217086.4	-	2	260	c.149C>T	c.(148-150)cCa>cTa	p.P50L	SALL4_ENST00000483130.1_5'UTR|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Missense_Mutation_p.P50L	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	50					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P50Q(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTCATTCCCTGGGTGGTTCAC	0.547000													5	406					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129903439	129903439	+	Missense_Mutation	SNP	C	C	T	rs148951938		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:129903439C>T	ENST00000368654.3	-	13	7040	c.6665G>A	c.(6664-6666)aGa>aAa	p.R2222K	MKI67_ENST00000368653.3_Missense_Mutation_p.R1862K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2222	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTGTGGAGATCTGCAGGCTAT	0.493000													5	753					0	0	1	0	0
FAM120B	84498	broad.mit.edu	37	6	170627847	170627847	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:170627847C>T	ENST00000476287.1	+	2	1477	c.1369C>T	c.(1369-1371)Ccc>Tcc	p.P457S	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.P480S|FAM120B_ENST00000540480.1_Missense_Mutation_p.P469S	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	457					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AGGCTCTGAACCCAGGCAAGA	0.473000													5	188					0	0	1	0	0
AP1G2	8906	broad.mit.edu	37	14	24033790	24033790	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:24033790C>T	ENST00000308724.5	-	8	1657	c.902G>A	c.(901-903)cGc>cAc	p.R301H	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.R301H	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	301					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		AGCTGCAGAGCGGATATCCAT	0.587000													5	216					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34327050	34327050	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr18:34327050C>T	ENST00000257209.4	+	21	3781	c.3659C>T	c.(3658-3660)gCa>gTa	p.A1220V	FHOD3_ENST00000592128.1_Missense_Mutation_p.A199V|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1395V|FHOD3_ENST00000359247.4_Missense_Mutation_p.A1203V|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1182V|FHOD3_ENST00000591635.1_Missense_Mutation_p.A416V	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1203	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AAAGACTGTGCAGAGCGAATT	0.353000													8	701					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76764091	76764091	+	Missense_Mutation	SNP	T	T	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:76764091T>A	ENST00000373344.5	-	35	7431	c.7217A>T	c.(7216-7218)cAg>cTg	p.Q2406L	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.Q2368L	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2406					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AAGTATTCGCTGAACACAGCT	0.393000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						4	184					0	0	1	0	0
MT1H	4496	broad.mit.edu	37	16	56704858	56704858	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:56704858G>T	ENST00000332374.4	+	3	214	c.143G>T	c.(142-144)tGc>tTc	p.C48F	MT1H_ENST00000569155.1_3'UTR	NM_005951.2	NP_005942.1	P80294	MT1H_HUMAN	metallothionein 1H	48	Alpha.						metal ion binding|protein binding			lung(5)	5						GCCCAGGGCTGCATCTGCAAA	0.567000													53	97					4.10029e-35	4.83687e-35	1	1	0
RHCE	6006	broad.mit.edu	37	1	25718602	25718602	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:25718602A>G	ENST00000349320.3	-	6	857	c.469T>C	c.(469-471)Tac>Cac	p.Y157H	RHCE_ENST00000455194.1_Intron|RHCE_ENST00000425135.1_Missense_Mutation_p.Y173H|RHCE_ENST00000413854.1_Missense_Mutation_p.Y173H|RHCE_ENST00000374352.2_Missense_Mutation_p.Y157H|RHCE_ENST00000349438.4_Missense_Mutation_p.Y173H|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000294413.7_Missense_Mutation_p.Y173H|RHCE_ENST00000243186.6_Missense_Mutation_p.Y173H			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	173						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		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;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		GCGAACACGTAGAAGTGCCTC	0.537000													5	412					0	0	1	0	0
RCHY1	25898	broad.mit.edu	37	4	76407825	76407825	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:76407825C>T	ENST00000324439.5	-	9	1107	c.709G>A	c.(709-711)Ggc>Agc	p.G237S	RCHY1_ENST00000513257.1_Missense_Mutation_p.G228S|RCHY1_ENST00000451788.1_3'UTR|RCHY1_ENST00000380840.2_Missense_Mutation_p.G197S|RCHY1_ENST00000512706.1_Missense_Mutation_p.G215S	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	237					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CATTTCATGCCTAATATATGA	0.348000													4	214					0	0	1	0	0
KANSL2	54934	broad.mit.edu	37	12	49061476	49061476	+	Splice_Site	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:49061476G>A	ENST00000550347.1	-	6	1565	c.1522_splice	c.e6+1	p.H508_splice	KANSL2_ENST00000357861.3_Splice_Site_p.Q130_splice|KANSL2_ENST00000420613.2_Splice_Site_p.H325_splice|KANSL2_ENST00000553086.1_Splice_Site_p.H325_splice			Q9H9L4	CL041_HUMAN	KAT8 regulatory NSL complex subunit 2	325																	AAAAAGATACGGGTAAGGCAG	0.448000													6	346					0	0	1	0	0
CIDEC	63924	broad.mit.edu	37	3	9911695	9911695	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:9911695C>T	ENST00000336832.2	-	5	564	c.425G>A	c.(424-426)cGt>cAt	p.R142H	CIDEC_ENST00000423850.1_Missense_Mutation_p.R68H|CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000430427.1_Missense_Mutation_p.R152H|CIDEC_ENST00000455015.1_Missense_Mutation_p.R68H|CIDEC_ENST00000443115.1_Intron	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	142					apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					AAACGTTACACGGGCCACATC	0.488000													6	689					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110631148	110631148	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr8:110631148G>A	ENST00000399066.3	-	2	1068	c.341C>T	c.(340-342)aCg>aTg	p.T114M	SYBU_ENST00000424158.2_Missense_Mutation_p.T122M|SYBU_ENST00000440310.1_Missense_Mutation_p.T117M|SYBU_ENST00000533171.1_Missense_Mutation_p.T117M|SYBU_ENST00000422135.1_Missense_Mutation_p.T117M|SYBU_ENST00000408908.2_Missense_Mutation_p.T117M|SYBU_ENST00000532779.1_Missense_Mutation_p.T49M|SYBU_ENST00000408889.3_De_novo_Start_InFrame|SYBU_ENST00000528331.1_De_novo_Start_InFrame|SYBU_ENST00000276646.9_Missense_Mutation_p.T117M|SYBU_ENST00000446070.2_Missense_Mutation_p.T116M|SYBU_ENST00000419099.1_Missense_Mutation_p.T116M|SYBU_ENST00000533065.1_De_novo_Start_InFrame|SYBU_ENST00000533895.1_Missense_Mutation_p.T116M|SYBU_ENST00000433638.1_Missense_Mutation_p.T117M|SYBU_ENST00000528647.1_Missense_Mutation_p.T116M	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	117	Ser-rich.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CATTCCAATCGTGCATTTCTT	0.478000													7	362					0	0	1	0	0
FTSJ3	117246	broad.mit.edu	37	17	61897195	61897195	+	Silent	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													6	424					0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33287346	33287346	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:33287346G>A	ENST00000374542.5	-	6	1955	c.1751C>T	c.(1750-1752)aCg>aTg	p.T584M	DAXX_ENST00000266000.6_Missense_Mutation_p.T584M|DAXX_ENST00000414083.2_Missense_Mutation_p.T509M	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	584	Interaction with MAP3K5.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GGAAATGTCCGTCTCCACAGA	0.532000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								4	122					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68973015	68973015	+	Splice_Site	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr8:68973015G>A	ENST00000288368.4	+	11	1616		c.e11+1		PREX2_ENST00000529398.1_Splice_Site	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2						G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATTCACCATGGTAATTACTTT	0.343000													3	91					0	0	1	0	0
MMP19	4327	broad.mit.edu	37	12	56230903	56230903	+	Missense_Mutation	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:56230903A>T	ENST00000394182.1	-	4	585	c.586T>A	c.(586-588)Tca>Aca	p.S196T	MMP19_ENST00000548629.1_Missense_Mutation_p.S459T|MMP19_ENST00000409200.3_3'UTR|MMP19_ENST00000322569.4_Missense_Mutation_p.S482T			Q99542	MMP19_HUMAN	matrix metallopeptidase 19	482					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						TTCCCACCTGATGGGGTAGTG	0.522000													5	556					0	0	1	0	0
ARNT	405	broad.mit.edu	37	1	150804293	150804293	+	Splice_Site	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:150804293C>T	ENST00000358595.5	-	10	1156		c.e10+1		ARNT_ENST00000354396.2_Splice_Site|ARNT_ENST00000505755.1_Splice_Site|ARNT_ENST00000515192.1_Splice_Site|ARNT_ENST00000468970.1_5'UTR	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator						positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	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;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CACTTTCTTACCTGCTGGGGG	0.438000			T	ETV6	AML								4	36					0	0	1	0	0
MAX	4149	broad.mit.edu	37	14	65544756	65544756	+	Splice_Site	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:65544756T>C	ENST00000284165.6	-	4	320		c.e4-2		MAX_ENST00000358402.4_Splice_Site|MAX_ENST00000556443.1_Splice_Site|MAX_ENST00000555932.1_Intron|MAX_ENST00000341653.2_Intron|MAX_ENST00000556979.1_Splice_Site|MAX_ENST00000358664.4_Splice_Site|MAX_ENST00000555667.1_Splice_Site|MAX_ENST00000557277.1_Splice_Site|MAX_ENST00000555419.1_Splice_Site|MAX_ENST00000557746.1_Splice_Site	NM_145113.1	NP_660088.1	P61244	MAX_HUMAN	MYC associated factor X						transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		CCGGGATGCCTGTGGCAATAT	0.498000													15	68					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8999035	8999035	+	Silent	SNP	G	G	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:8999035G>C	ENST00000397910.4	-	57	41012	c.40809C>G	c.(40807-40809)ccC>ccG	p.P13603P	MUC16_ENST00000380951.5_Silent_p.P244P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13605				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCTAGTGGTGGGCACAGAGC	0.542000													6	153					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210560726	210560726	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:210560726A>G	ENST00000360351.4	+	7	4338	c.3832A>G	c.(3832-3834)Aaa>Gaa	p.K1278E	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.K1274E	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1278					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AAGTGAACACAAAGGAGTGAT	0.498000													21	181					0	0	1	0	0
MT-TL1	0	broad.mit.edu	37	MT	3244	3244	+	RNA	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrM:3244G>A	ENST00000386347.1	+	0	15																											aagatggcagagcccggtaat	0.438000													11	3					0	0	1	0	0
LARP1B	55132	broad.mit.edu	37	4	129098058	129098058	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:129098058G>A	ENST00000326639.6	+	13	1891	c.1680G>A	c.(1678-1680)aaG>aaA	p.K560K	LARP1B_ENST00000441387.1_Silent_p.K560K|LARP1B_ENST00000264584.5_Intron|LARP1B_ENST00000354456.3_5'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	560							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						acattcccaagaaaggtaaca	0.393000													6	102					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12885598	12885598	+	Splice_Site	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:12885598A>T	ENST00000380659.3	+	2	41		c.e2-1		TLR7_ENST00000484204.1_3'UTR	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7						cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TCTTTCTCTTAGTTGATGCTA	0.388000													5	279					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73414294	73414294	+	Silent	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:73414294T>C	ENST00000286657.4	-	3	441	c.405A>G	c.(403-405)agA>agG	p.R135R	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	135					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTCTCCGGATTCTATACGTAG	0.498000													5	279					0	0	1	0	0
DTL	51514	broad.mit.edu	37	1	212273684	212273684	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:212273684C>T	ENST00000366991.4	+	14	1666	c.1352C>T	c.(1351-1353)gCc>gTc	p.A451V	DTL_ENST00000542077.1_Missense_Mutation_p.A409V|DTL_ENST00000475419.1_3'UTR	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	451					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		GCAGCTTGTGCCCCAAGCTGT	0.522000													6	301					0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155931573	155931573	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:155931573C>T	ENST00000368316.1	-	15	1733	c.1263G>A	c.(1261-1263)atG>atA	p.M421I	ARHGEF2_ENST00000361247.4_Missense_Mutation_p.M449I|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.M448I|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.M421I|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.M450I			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	449	DH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCCGAGGGTCCATGCGGTTGT	0.597000													25	59					0	0	1	0	0
ZNF24	7572	broad.mit.edu	37	18	32917436	32917436	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr18:32917436G>A	ENST00000261332.6	-	4	1046	c.867C>T	c.(865-867)agC>agT	p.S289S	ZNF24_ENST00000589881.1_3'UTR|ZNF24_ENST00000399061.3_Silent_p.S289S	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	289					myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						TGGAACTTCGGCTGAATGCTT	0.453000													4	308					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125082753	125082753	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr8:125082753T>C	ENST00000522917.1	+	30	4086	c.3880T>C	c.(3880-3882)Tgg>Cgg	p.W1294R	FER1L6_ENST00000399018.1_Missense_Mutation_p.W1294R|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1294						integral to membrane				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)			TTTTGAAGACTGGGTGAAAAC	0.418000													7	201					0	0	1	0	0
MAPRE3	22924	broad.mit.edu	37	2	27245090	27245090	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:27245090G>A	ENST00000233121.2	+	2	202	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	MAPRE3_ENST00000405074.3_Missense_Mutation_p.A2T|MAPRE3_ENST00000491354.1_3'UTR|MAPRE3_ENST00000402218.1_Missense_Mutation_p.A2T			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	2				A -> P (in Ref. 7; CAA72060).	cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGGGTATGGCCGTCAATGT	0.507000													18	609					0	0	1	0	0
ANKRD28	23243	broad.mit.edu	37	3	15726732	15726732	+	Splice_Site	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:15726732C>A	ENST00000399451.2	-	21	2667		c.e21+1		ANKRD28_ENST00000497037.1_Splice_Site|ANKRD28_ENST00000383777.1_Splice_Site	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28							nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GTATACTTAACCATTGTAGCA	0.373000													31	170					2.81731e-10	3.18972e-10	1	1	0
PLSCR4	57088	broad.mit.edu	37	3	145918825	145918825	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:145918825C>A	ENST00000354952.2	-	5	634	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	PLSCR4_ENST00000446574.2_Nonsense_Mutation_p.E132*|PLSCR4_ENST00000383083.2_Intron|PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000493382.1_Nonsense_Mutation_p.E132*	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	132					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						TACATACTTTCCAGAGGCTCA	0.318000													4	111					0.00116845	0.00123755	1	1	0
PKP2	5318	broad.mit.edu	37	12	32996139	32996139	+	Missense_Mutation	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:32996139A>T	ENST00000070846.6	-	6	1511	c.1487T>A	c.(1486-1488)gTt>gAt	p.V496D	PKP2_ENST00000340811.4_Intron	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	496					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ctggtctcgaactcctgacct	0.557000													4	251					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43783270	43783270	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:43783270G>A	ENST00000372476.3	+	16	2735	c.2656G>A	c.(2656-2658)Gga>Aga	p.G886R	TIE1_ENST00000433781.2_Missense_Mutation_p.G531R|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	886	Protein kinase.				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)				TGACTTTGCGGGAGAACTGGA	0.502000													3	192					0	0	1	0	0
RPL12P38	645688	broad.mit.edu	37	17	58511256	58511256	+	RNA	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:58511256C>A	ENST00000588627.1	-	0	2101																											GCAAGGTTGACGATCTCATCA	0.473000													3	60					1	1	1	1	0
FAT3	120114	broad.mit.edu	37	11	92533197	92533197	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:92533197G>T	ENST00000298047.6	+	9	7035	c.7018G>T	c.(7018-7020)Gat>Tat	p.D2340Y	FAT3_ENST00000409404.2_Missense_Mutation_p.D2340Y|FAT3_ENST00000525166.1_Missense_Mutation_p.D2190Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2340	Cadherin 21.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTTCACATAGATAGCTCAAG	0.383000										TCGA Ovarian(4;0.039)			8	110					2.17888e-05	2.41145e-05	1	1	0
ITGA5	3678	broad.mit.edu	37	12	54797447	54797447	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:54797447C>T	ENST00000293379.4	-	17	1999	c.1738G>A	c.(1738-1740)Gct>Act	p.A580T	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	580					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCCTCTCGAGCCCCATTCTGG	0.627000													9	90					0	0	1	0	0
RNF113B	140432	broad.mit.edu	37	13	98828727	98828727	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr13:98828727C>T	ENST00000267291.6	-	1	792	c.764G>A	c.(763-765)aGg>aAg	p.R255K	FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000595437.1_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	255							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TATGAAACACCTGAATGGTAT	0.557000													3	111					0	0	1	0	0
ETFDH	2110	broad.mit.edu	37	4	159618709	159618709	+	Splice_Site	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:159618709A>T	ENST00000511912.1	+	8	1163		c.e8-1		ETFDH_ENST00000307738.5_Splice_Site	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase						fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TTTTTTTTTTAGTTATGGGTT	0.348000													4	104					0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74627331	74627331	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr15:74627331C>T	ENST00000321288.5	+	21	2752	c.2752C>T	c.(2752-2754)Cga>Tga	p.R918*	CCDC33_ENST00000558821.1_Nonsense_Mutation_p.R274*|CCDC33_ENST00000268082.4_Nonsense_Mutation_p.R308*|CCDC33_ENST00000398814.3_Nonsense_Mutation_p.R681*			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	884							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGACTCAGCTCGACGCTGGGG	0.577000													5	209					0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158226831	158226831	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:158226831G>A	ENST00000289429.5	+	4	1393	c.860G>A	c.(859-861)gGc>gAc	p.G287D		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	287	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		p.G287V(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	AGTCTAGAGGGCCAGGACATC	0.592000													7	155					0	0	1	0	0
OR5K4	403278	broad.mit.edu	37	3	98072960	98072960	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:98072960A>G	ENST00000354924.2	+	1	263	c.263A>G	c.(262-264)gAg>gGg	p.E88G	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TTCTTTTCTGAGGATAGAATT	0.428000													8	1371					0	0	1	0	0
GADL1	339896	broad.mit.edu	37	3	30875766	30875766	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:30875766C>T	ENST00000454381.3	-	10	957	c.911G>A	c.(910-912)tGg>tAg	p.W304*	GADL1_ENST00000282538.5_Nonsense_Mutation_p.W304*			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	304					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	TGAGCCACCCCAAGAAGCCTG	0.443000													15	160					0	0	1	0	0
FAM65A	79567	broad.mit.edu	37	16	67576514	67576514	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:67576514A>G	ENST00000540839.3	+	14	2105	c.1885A>G	c.(1885-1887)Acc>Gcc	p.T629A	CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000042381.4_Missense_Mutation_p.T609A|FAM65A_ENST00000379312.3_Missense_Mutation_p.T613A|FAM65A_ENST00000428437.2_Missense_Mutation_p.T623A|FAM65A_ENST00000422602.2_Missense_Mutation_p.T629A			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	613	Pro-rich.					cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GCCAAGCCCTACCCATACCAC	0.542000													5	246					0	0	1	0	0
TFRC	7037	broad.mit.edu	37	3	195778819	195778819	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:195778819C>A	ENST00000360110.4	-	19	2446	c.2277G>T	c.(2275-2277)gaG>gaT	p.E759D	TFRC_ENST00000420415.1_Missense_Mutation_p.E678D|TFRC_ENST00000392396.3_Missense_Mutation_p.E759D|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.E477D	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	759	Ligand-binding.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		ACATTTAAAACTCATTGTCAA	0.438000			T	BCL6	NHL								26	82					1.2476e-16	1.4543e-16	1	1	0
BMX	660	broad.mit.edu	37	X	15540535	15540535	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:15540535C>T	ENST00000357607.2	+	7	765	c.577C>T	c.(577-579)Caa>Taa	p.Q193*	BMX_ENST00000342014.6_Nonsense_Mutation_p.Q193*|BMX_ENST00000348343.6_Nonsense_Mutation_p.Q193*			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	193					cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	p.Q193K(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CACTCTAGCCCAATATGACAA	0.428000													11	275					0	0	1	0	0
PELI1	57162	broad.mit.edu	37	2	64323337	64323337	+	Silent	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:64323337T>C	ENST00000358912.4	-	6	1054	c.612A>G	c.(610-612)ggA>ggG	p.G204G		NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	204					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						CTCTCCATATTCCAGGCTTGG	0.438000													78	72					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124380756	124380756	+	Missense_Mutation	SNP	G	G	A	rs111726992		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:124380756G>A	ENST00000338354.3	+	41	5187	c.5081G>A	c.(5080-5082)cGg>cAg	p.R1694Q	DMBT1_ENST00000368955.3_Missense_Mutation_p.R1684Q|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1066Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1684Q|DMBT1_ENST00000368909.3_Missense_Mutation_p.R1694Q|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1066Q			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1694	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGAAATGCCCGGTTTGGCCAG	0.617000													7	340					0	0	1	0	0
ZNF654	55279	broad.mit.edu	37	3	88189280	88189280	+	Missense_Mutation	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:88189280A>T	ENST00000309495.5	+	1	1027	c.820A>T	c.(820-822)Aat>Tat	p.N274Y	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TTTGCATTTTAATTGCAACGA	0.373000													4	155					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38568017	38568017	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr21:38568017C>T	ENST00000399017.2	+	42	8006	c.5259C>T	c.(5257-5259)ggC>ggT	p.G1753G	TTC3_ENST00000355666.1_Silent_p.G1753G|TTC3_ENST00000354749.2_Silent_p.G1753G|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1753					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GCGACGATGGCCAAGGGCTTG	0.557000													4	456					0	0	1	0	0
U2SURP	23350	broad.mit.edu	37	3	142772557	142772557	+	Missense_Mutation	SNP	A	A	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:142772557A>C	ENST00000397933.2	+	25	2750	c.1468A>C	c.(1468-1470)Aag>Cag	p.K490Q	U2SURP_ENST00000473835.2_Missense_Mutation_p.K899Q|U2SURP_ENST00000493598.2_Missense_Mutation_p.K898Q			O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	899					RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						agaaagagacaagaaagataa	0.303000													3	100					0	0	1	0	0
FCRLB	127943	broad.mit.edu	37	1	161693219	161693219	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:161693219C>T	ENST00000367948.2	+	5	330	c.115C>T	c.(115-117)Cgg>Tgg	p.R39W	FCRLB_ENST00000336830.5_Missense_Mutation_p.R39W|FCRLB_ENST00000392158.1_Missense_Mutation_p.R39W|FCRLB_ENST00000367944.3_Missense_Mutation_p.R32W|FCRLB_ENST00000367945.1_Missense_Mutation_p.R32W|FCRLB_ENST00000367946.3_Missense_Mutation_p.R39W			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	39	Ig-like C2-type 1.					endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CAAAGGGGAGCGGGTAACTTT	0.557000													4	229					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39265811	39265811	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr13:39265811C>T	ENST00000280481.7	+	1	4546	c.4330C>T	c.(4330-4332)Cta>Tta	p.L1444L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1444					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AACAGACCTACTAAGCACTAG	0.473000													5	83					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													5	282					0	0	1	0	0
LMNB1	4001	broad.mit.edu	37	5	126156699	126156699	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:126156699G>A	ENST00000261366.5	+	7	1619	c.1258G>A	c.(1258-1260)Gat>Aat	p.D420N	LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	420	Tail.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		GAAGAGGGTTGATGTGGAAGA	0.473000													16	70					0	0	1	0	0
ZFYVE27	118813	broad.mit.edu	37	10	99498404	99498404	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:99498404C>T	ENST00000393677.4	+	2	374	c.170C>T	c.(169-171)gCa>gTa	p.A57V	ZFYVE27_ENST00000337540.7_Missense_Mutation_p.A57V|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.A57V|ZFYVE27_ENST00000357540.4_Missense_Mutation_p.A57V|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.A57V|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.A57V|ZFYVE27_ENST00000370610.3_Intron|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.A57V	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	57	Necessary for interaction with RAB11A and function in neurite outgrowth.				cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		TTGAAGGATGCAGGTGATGGT	0.507000													6	372					0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116042303	116042303	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:116042303G>T	ENST00000603594.1	+	9	1183	c.862G>T	c.(862-864)Gcc>Tcc	p.A288S	VWA2_ENST00000392982.3_Missense_Mutation_p.A288S	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	288						extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AACCCACCCTGCCACCTGCTA	0.493000													5	107					0.00307968	0.00322711	1	1	0
MACF1	23499	broad.mit.edu	37	1	39916725	39916725	+	Splice_Site	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:39916725C>T	ENST00000564288.1	+	85	21037	c.20258_splice	c.e85-1	p.Q6754_splice	MACF1_ENST00000545844.1_Splice_Site_p.Q4695_splice|MACF1_ENST00000372915.3_Splice_Site_p.Q6653_splice|MACF1_ENST00000317713.7_Splice_Site_p.Q4695_splice|MACF1_ENST00000567887.1_Splice_Site_p.Q6791_splice|MACF1_ENST00000361689.2_Splice_Site_p.Q4695_splice|MACF1_ENST00000539005.1_Splice_Site_p.Q4565_splice|MACF1_ENST00000289893.4_Splice_Site_p.Q5197_splice			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6761					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATTTCTCAGGCAGCACAAGTT	0.473000													4	207					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129189922	129189922	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:129189922C>T	ENST00000540052.1	+	12	4991	c.4947C>T	c.(4945-4947)acC>acT	p.T1649T	BCORL1_ENST00000218147.7_Silent_p.T1649T|BCORL1_ENST00000303743.5_Silent_p.T1723T|BCORL1_ENST00000359304.2_Silent_p.T1519T	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1649					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TTGAAATCACCACCATGCCCA	0.592000													4	295					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39889745	39889745	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:39889745C>T	ENST00000564288.1	+	61	16972	c.16195C>T	c.(16195-16197)Ctt>Ttt	p.L5399F	MACF1_ENST00000545844.1_Missense_Mutation_p.L3337F|MACF1_ENST00000372915.3_Missense_Mutation_p.L5404F|MACF1_ENST00000317713.7_Missense_Mutation_p.L3337F|MACF1_ENST00000567887.1_Missense_Mutation_p.L5436F|MACF1_ENST00000361689.2_Missense_Mutation_p.L3337F|MACF1_ENST00000539005.1_Missense_Mutation_p.L3316F|MACF1_ENST00000289893.4_Missense_Mutation_p.L3839F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5404					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGTAGACATGCTTCAAGCAGA	0.443000													6	227					0	0	1	0	0
ZNF155	7711	broad.mit.edu	37	19	44501183	44501183	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:44501183C>T	ENST00000270014.2	+	5	1302	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*	ZNF155_ENST00000590615.1_Nonsense_Mutation_p.R392*|RP11-15A1.7_ENST00000589021.1_RNA|ZNF155_ENST00000407951.2_Nonsense_Mutation_p.R403*|RP11-15A1.7_ENST00000586860.1_RNA	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	Q12901	ZN155_HUMAN	zinc finger protein 155	392						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				GAACCATCAGCGAGTCCACAG	0.408000													4	315					0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76817422	76817422	+	Splice_Site	SNP	A	A	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:76817422A>G	ENST00000286719.7	-	2	412		c.e2+1		PPEF2_ENST00000510607.1_Splice_Site	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2						detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGAAACACGTACCTCTCTCTG	0.507000											OREG0016229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	356					0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6245420	6245420	+	Missense_Mutation	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:6245420A>T	ENST00000265978.4	-	3	555	c.197T>A	c.(196-198)cTc>cAc	p.L66H	FAM160A2_ENST00000449352.2_Missense_Mutation_p.L66H|FAM160A2_ENST00000524416.1_Missense_Mutation_p.L66H	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	66					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACAGCACTGAGATCGTCTGC	0.587000													4	302					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160885464	160885464	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:160885464G>A	ENST00000283243.7	-	5	1058	c.852C>T	c.(850-852)agC>agT	p.S284S	PLA2R1_ENST00000392771.1_Silent_p.S284S	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	284	C-type lectin 1.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CTGTTTTACTGCTCATGTGCT	0.453000													3	33					0	0	1	0	0
RAB43	339122	broad.mit.edu	37	3	128840237	128840237	+	Silent	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:128840237C>A	ENST00000315150.5	-	1	396	c.96G>T	c.(94-96)acG>acT	p.T32T	ISY1-RAB43_ENST00000418265.1_Intron|RAB43_ENST00000393307.1_Silent_p.T32T|RAB43_ENST00000393305.1_Silent_p.T32T|RAB43_ENST00000393304.1_Silent_p.T32T|RAB43_ENST00000476465.1_Silent_p.T32T|RAB43_ENST00000393308.1_Silent_p.T32T	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	Q86YS6	RAB43_HUMAN	RAB43, member RAS oncogene family	32					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			kidney(2)|liver(1)|lung(2)|skin(1)	6						GCACCACGCACGTCTTGCCCA	0.667000													3	10					0.014758	0.0153017	1	1	0
ACSL3	2181	broad.mit.edu	37	2	223782769	223782769	+	Missense_Mutation	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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								5	135					0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57866395	57866395	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:57866395G>A	ENST00000393797.2	-	21	2563	c.2371C>T	c.(2371-2373)Cca>Tca	p.P791S	ARHGAP9_ENST00000430041.2_Missense_Mutation_p.P517S|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.P701S|ARHGAP9_ENST00000424809.2_3'UTR|ARHGAP9_ENST00000550288.1_3'UTR|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.P720S			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	720					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TCCTGCTCTGGCCGAAACAGG	0.557000													4	120					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57970616	57970616	+	Silent	SNP	C	C	T	rs146703120		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:57970616C>T	ENST00000455537.2	+	20	2545	c.2271C>T	c.(2269-2271)caC>caT	p.H757H	KIF5A_ENST00000286452.5_Silent_p.H668H	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	757					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GCGAAGAACACGAGAAGAGCA	0.488000													13	264					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158815659	158815659	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:158815659T>C	ENST00000368141.4	+	5	1114	c.853T>C	c.(853-855)Tct>Cct	p.S285P		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	285	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GGAAGCATCATCTGTGTCTGA	0.348000													3	100					0	0	1	0	0
TMX4	56255	broad.mit.edu	37	20	7982163	7982163	+	Silent	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:7982163G>T	ENST00000246024.2	-	3	533	c.318C>A	c.(316-318)acC>acA	p.T106T	TMX4_ENST00000530935.1_5'UTR	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	106	Thioredoxin.				cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						CTGGGAGAGTGGTGACAAAGA	0.343000													4	12					0.00116845	0.00123755	1	1	0
PUS7L	83448	broad.mit.edu	37	12	44148483	44148483	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:44148483A>G	ENST00000416848.2	-	2	1054	c.566T>C	c.(565-567)gTa>gCa	p.V189A	PUS7L_ENST00000553166.1_Missense_Mutation_p.V189A|PUS7L_ENST00000551923.1_Missense_Mutation_p.V189A|PUS7L_ENST00000344862.5_Missense_Mutation_p.V189A|PUS7L_ENST00000431332.3_Intron	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	189					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		GTTTTTTCCTACAGTTACTAA	0.338000													3	253					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135286243	135286243	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:135286243G>T	ENST00000285968.6	+	17	2526	c.2500G>T	c.(2500-2502)Gcc>Tcc	p.A834S		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	834					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TGACACCTATGCCCCCTTTCC	0.398000													17	323					5.03518e-11	5.76704e-11	1	1	0
CYP46A1	10858	broad.mit.edu	37	14	100165849	100165849	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:100165849G>A	ENST00000261835.3	+	4	433	c.329G>A	c.(328-330)cGt>cAt	p.R110H	CYP46A1_ENST00000423126.2_Missense_Mutation_p.R13H	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	110					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				AAGATGTACCGTGCGCTCCAG	0.537000													8	687					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57542762	57542762	+	Splice_Site	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:57542762A>T	ENST00000338962.4	+	7	1090		c.e7-1		LRP1_ENST00000554174.1_Intron|LRP1_ENST00000553277.1_Intron|LRP1_ENST00000243077.3_Intron			Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1						aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ttatttttttaGTGTGTGTGT	0.468000													3	51					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2817632	2817632	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:2817632G>A	ENST00000301740.8	+	11	7652	c.7103G>A	c.(7102-7104)aGt>aAt	p.S2368N	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2368	Ala-rich.|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						AGCCTCACCAGTGCTAGGATG	0.627000													4	94					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152278999	152278999	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:152278999C>T	ENST00000368799.1	-	3	8398	c.8363G>A	c.(8362-8364)gGa>gAa	p.G2788E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2788	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCGGGTGTCCACGAATGGT	0.602000									Ichthyosis				7	221					0	0	1	0	0
PTTG1	9232	broad.mit.edu	37	5	159851297	159851297	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:159851297C>T	ENST00000393964.1	+	3	733	c.330C>T	c.(328-330)gcC>gcT	p.A110A	PTTG1_ENST00000519287.1_3'UTR|PTTG1_ENST00000520452.1_Silent_p.A110A|PTTG1_ENST00000352433.5_Silent_p.A110A			O95997	PTTG1_HUMAN	pituitary tumor-transforming 1	110					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter	cytosol|nucleus	cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding			breast(1)|large_intestine(1)|lung(4)	6	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		CAGATGATGCCTATCCAGAAA	0.383000													12	596					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35547638	35547638	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr9:35547638C>T	ENST00000455600.1	+	2	1689	c.1120C>T	c.(1120-1122)Cca>Tca	p.P374S		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	374						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TGAGCCGTGCCCAGCAGTGGC	0.547000													4	108					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43837052	43837052	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:43837052C>A	ENST00000372781.3	+	2	1171	c.1114C>A	c.(1114-1116)Cgc>Agc	p.R372S	SEMG1_ENST00000244069.6_Missense_Mutation_p.R312S	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGTATCCCAACGCAGTATTTA	0.418000													5	194					0.00116845	0.00123755	1	1	0
SNX25	83891	broad.mit.edu	37	4	186263224	186263224	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:186263224C>T	ENST00000504273.1	+	12	1943	c.1649C>T	c.(1648-1650)cCc>cTc	p.P550L	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.P550L			Q9H3E2	SNX25_HUMAN	sorting nexin 25	550	PX.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TGGACGGTCCCCAGAAGGCTC	0.438000													35	247					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122161947	122161947	+	Splice_Site	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:122161947C>A	ENST00000263710.4	-	26	3122	c.2733_splice	c.e26+1	p.K911_splice	CLASP1_ENST00000541859.1_Splice_Site_p.K644_splice|CLASP1_ENST00000397587.3_Splice_Site_p.K891_splice|CLASP1_ENST00000541377.1_Splice_Site_p.K889_splice|CLASP1_ENST00000455322.2_Splice_Site_p.K883_splice|CLASP1_ENST00000409078.3_Splice_Site_p.K883_splice|CLASP1_ENST00000545861.1_Splice_Site_p.K658_splice	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	911					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TCAGACTTACCTTGCTATGAG	0.428000													3	44					1	1	1	1	0
EDC4	23644	broad.mit.edu	37	16	67914536	67914536	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:67914536G>A	ENST00000358933.5	+	18	2413	c.2174G>A	c.(2173-2175)aGc>aAc	p.S725N		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	725					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GCCTCCCCTAGCCGCACTCGT	0.632000													4	171					0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194157925	194157925	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:194157925G>T	ENST00000439040.1	-	20	2810	c.2019C>A	c.(2017-2019)aaC>aaA	p.N673K	ATP13A3_ENST00000256031.4_Missense_Mutation_p.N673K			Q9H7F0	AT133_HUMAN	ATPase type 13A3	673					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CTTCCAAAACGTTTTGAAAAT	0.348000													10	213					1.76689e-08	1.96654e-08	1	1	0
SLC44A4	80736	broad.mit.edu	37	6	31842504	31842504	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:31842504C>T	ENST00000544672.1	-	6	530	c.234G>A	c.(232-234)tgG>tgA	p.W78*	SLC44A4_ENST00000375562.4_Intron|SLC44A4_ENST00000229729.6_Nonsense_Mutation_p.W154*|SLC44A4_ENST00000465707.1_5'UTR	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	154						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	TCACCATATTCCAGGGTACCC	0.532000													29	69					0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248128995	248128995	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:248128995C>T	ENST00000366480.3	+	1	461	c.362C>T	c.(361-363)gCc>gTc	p.A121V	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GTGTTCTTGGCCCTTGGTGGA	0.443000													5	451					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63030431	63030431	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr15:63030431C>T	ENST00000561311.1	+	29	3816	c.3586C>T	c.(3586-3588)Cac>Tac	p.H1196Y	TLN2_ENST00000306829.6_Missense_Mutation_p.H1196Y|TLN2_ENST00000559908.1_3'UTR			Q9Y4G6	TLN2_HUMAN	talin 2	1196					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			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						AGCCGTCTCACACTCCTTGAA	0.493000													6	542					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35969399	35969399	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:35969399G>A	ENST00000297866.5	+	5	874	c.808G>A	c.(808-810)Gca>Aca	p.A270T		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	270										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AATTAAACATGCACGTGTATA	0.418000													39	67					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2963985	2963985	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:2963985G>A	ENST00000396946.4	-	15	2225	c.1822C>T	c.(1822-1824)Cgc>Tgc	p.R608C		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	608					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AAGGAGTAGCGTTCGTGACTG	0.642000			Mis		DLBCL								3	122					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137756470	137756470	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:137756470C>T	ENST00000314358.5	+	15	3991	c.3791C>T	c.(3790-3792)gCa>gTa	p.A1264V	KDM3B_ENST00000394866.1_Missense_Mutation_p.A920V|KDM3B_ENST00000542866.1_Missense_Mutation_p.A296V|KDM3B_ENST00000508386.1_3'UTR	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1264					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AACTCCACTGCAAAGGTCTCT	0.512000													5	431					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12421288	12421288	+	Missense_Mutation	SNP	C	C	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:12421288C>G	ENST00000397026.2	+	4	485	c.102C>G	c.(100-102)caC>caG	p.H34Q	PPARG_ENST00000397012.2_Missense_Mutation_p.H28Q|PPARG_ENST00000539812.1_Missense_Mutation_p.H26Q|PPARG_ENST00000309576.6_Missense_Mutation_p.H28Q|PPARG_ENST00000397000.1_Missense_Mutation_p.H28Q|PPARG_ENST00000397010.2_Missense_Mutation_p.H28Q|PPARG_ENST00000287820.6_Missense_Mutation_p.H56Q|PPARG_ENST00000397015.2_Missense_Mutation_p.H28Q			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	56					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	TGGAAGACCACTCCCACTCCT	0.458000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						4	276					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78225248	78225248	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:78225248G>A	ENST00000397909.2	+	1	180	c.7G>A	c.(7-9)Gtt>Att	p.V3I	NAV3_ENST00000266692.7_Missense_Mutation_p.V3I|NAV3_ENST00000228327.6_Missense_Mutation_p.V3I|NAV3_ENST00000536525.2_Missense_Mutation_p.V3I			Q8IVL0	NAV3_HUMAN	neuron navigator 3	3						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGCCATGCCTGTTCTTGGGGT	0.443000										HNSCC(70;0.22)			7	675					0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57125063	57125063	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:57125063C>A	ENST00000376149.3	-	16	2091	c.1282G>T	c.(1282-1284)Gat>Tat	p.D428Y	TRIM37_ENST00000262294.7_Missense_Mutation_p.D550Y|TRIM37_ENST00000393066.3_Missense_Mutation_p.D550Y|TRIM37_ENST00000393065.2_Missense_Mutation_p.D516Y			O94972	TRI37_HUMAN	tripartite motif containing 37	550						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCATCAATATCATTTTCTTCT	0.353000									Mulibrey Nanism				5	60					0.00116845	0.00134625	0.001168	1	0
ARAP2	116984	broad.mit.edu	37	4	36069579	36069579	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:36069579G>A	ENST00000303965.4	-	33	5554	c.5065C>T	c.(5065-5067)Cgg>Tgg	p.R1689W		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1689					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GTTCTTGACCGTTGTAGAACC	0.358000													15	285					0	0	0.004990	0	0
DEPDC7	91614	broad.mit.edu	37	11	33050304	33050304	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:33050304G>T	ENST00000311388.3	+	4	1097	c.721G>T	c.(721-723)Gat>Tat	p.D241Y	DEPDC7_ENST00000241051.3_Missense_Mutation_p.D250Y	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	250					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TAACTATCTGGATCGAGGGAT	0.403000													26	174					1.17739e-12	1.45121e-12	0.005443	1	0
PELI1	57162	broad.mit.edu	37	2	64323337	64323337	+	Silent	SNP	T	T	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:64323337T>C	ENST00000358912.4	-	6	1054	c.612A>G	c.(610-612)ggA>ggG	p.G204G		NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	204					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						CTCTCCATATTCCAGGCTTGG	0.438000													117	80					0	0	0.003610	0	0
NUP210L	91181	broad.mit.edu	37	1	154067513	154067513	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:154067513C>T	ENST00000368559.3	-	15	2156	c.2085G>A	c.(2083-2085)gcG>gcA	p.A695A	NUP210L_ENST00000271854.3_Silent_p.A695A	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	695						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTGTCTTCTCCGCATTCAATT	0.473000													8	65					0	0	0.003080	0	0
TECTA	7007	broad.mit.edu	37	11	120984322	120984322	+	Missense_Mutation	SNP	G	G	A	rs150098939	byFrequency	TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:120984322G>A	ENST00000392793.1	+	6	956	c.685G>A	c.(685-687)Gag>Aag	p.E229K	TECTA_ENST00000264037.2_Missense_Mutation_p.E229K			O75443	TECTA_HUMAN	tectorin alpha	229	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AAGAACCCCCGAGATCGTGAA	0.478000													5	149					0	0	0.000602	0	0
ARNT	405	broad.mit.edu	37	1	150804293	150804293	+	Splice_Site	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:150804293C>T	ENST00000358595.5	-	10	1156		c.e10+1		ARNT_ENST00000354396.2_Splice_Site|ARNT_ENST00000515192.1_Splice_Site|ARNT_ENST00000505755.1_Splice_Site|ARNT_ENST00000468970.1_5'UTR	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator						positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	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;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CACTTTCTTACCTGCTGGGGG	0.438000			T	ETV6	AML								5	63					0	0	0.000602	0	0
MAX	4149	broad.mit.edu	37	14	65544756	65544756	+	Splice_Site	SNP	T	T	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:65544756T>C	ENST00000284165.6	-	4	320		c.e4-2		MAX_ENST00000557746.1_Splice_Site|MAX_ENST00000556443.1_Splice_Site|MAX_ENST00000555932.1_Intron|MAX_ENST00000556979.1_Splice_Site|MAX_ENST00000555667.1_Splice_Site|MAX_ENST00000555419.1_Splice_Site|MAX_ENST00000358664.4_Splice_Site|MAX_ENST00000358402.4_Splice_Site|MAX_ENST00000557277.1_Splice_Site|MAX_ENST00000341653.2_Intron	NM_145113.1	NP_660088.1	P61244	MAX_HUMAN	MYC associated factor X						transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		CCGGGATGCCTGTGGCAATAT	0.498000													22	96					0	0	0.001523	0	0
CXorf22	170063	broad.mit.edu	37	X	35969399	35969399	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:35969399G>A	ENST00000297866.5	+	5	874	c.808G>A	c.(808-810)Gca>Aca	p.A270T		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	270										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AATTAAACATGCACGTGTATA	0.418000													18	59					0	0	0.006122	0	0
NID1	4811	broad.mit.edu	37	1	236212062	236212062	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:236212062G>A	ENST00000264187.6	-	2	535	c.453C>T	c.(451-453)agC>agT	p.S151S	NID1_ENST00000366595.3_Silent_p.S151S	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	151	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding	p.S151S(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CAACCACCGCGCTACTAGGCT	0.577000													9	66					0	0	0.004482	0	0
RAB43	339122	broad.mit.edu	37	3	128840237	128840237	+	Silent	SNP	C	C	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:128840237C>A	ENST00000315150.5	-	1	396	c.96G>T	c.(94-96)acG>acT	p.T32T	ISY1-RAB43_ENST00000418265.1_Intron|RAB43_ENST00000393304.1_Silent_p.T32T|RAB43_ENST00000393305.1_Silent_p.T32T|RAB43_ENST00000393308.1_Silent_p.T32T|RAB43_ENST00000476465.1_Silent_p.T32T|RAB43_ENST00000393307.1_Silent_p.T32T	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	Q86YS6	RAB43_HUMAN	RAB43, member RAS oncogene family	32					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			kidney(2)|liver(1)|lung(2)|skin(1)	6						GCACCACGCACGTCTTGCCCA	0.667000													9	19					0.00621372	0.00700696	0.006214	1	0
MT-ND5	4540	broad.mit.edu	37	MT	12602	12602	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrM:12602T>C	ENST00000361567.2	+	1	266	c.266T>C	c.(265-267)tTc>tCc	p.F89S				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	89					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	CTCCATAATATTCATCCCTGT	0.393000													8	138					0	0	0.004482	0	0
ITGA5	3678	broad.mit.edu	37	12	54797447	54797447	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:54797447C>T	ENST00000293379.4	-	17	1999	c.1738G>A	c.(1738-1740)Gct>Act	p.A580T	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	580					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCCTCTCGAGCCCCATTCTGG	0.627000													27	203					0	0	0.004656	0	0
ATP9A	10079	broad.mit.edu	37	20	50226667	50226667	+	Missense_Mutation	SNP	G	G	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:50226667G>C	ENST00000338821.5	-	24	2873	c.2609C>G	c.(2608-2610)cCt>cGt	p.P870R	ATP9A_ENST00000402822.1_Missense_Mutation_p.P749R|ATP9A_ENST00000311637.5_Missense_Mutation_p.P734R	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	870					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTGATAGAGAGGGACGGAGGC	0.423000													9	88					0	0	0.004482	0	0
ANKRD28	23243	broad.mit.edu	37	3	15726732	15726732	+	Splice_Site	SNP	C	C	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:15726732C>A	ENST00000399451.2	-	21	2667		c.e21+1		ANKRD28_ENST00000497037.1_Splice_Site|ANKRD28_ENST00000383777.1_Splice_Site	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28							nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GTATACTTAACCATTGTAGCA	0.373000													40	273					2.40579e-17	3.10993e-17	0.006230	1	0
FREM2	341640	broad.mit.edu	37	13	39265811	39265811	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr13:39265811C>T	ENST00000280481.7	+	1	4546	c.4330C>T	c.(4330-4332)Cta>Tta	p.L1444L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1444					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AACAGACCTACTAAGCACTAG	0.473000													20	177					0	0	0.002299	0	0
QPCT	25797	broad.mit.edu	37	2	37586796	37586796	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:37586796C>T	ENST00000338415.3	+	3	499	c.341C>T	c.(340-342)cCc>cTc	p.P114L	QPCT_ENST00000537448.1_Missense_Mutation_p.P65L	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	114					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				AGTCAGACACCCTATGGGTAC	0.443000													48	29					0	0	0.003610	0	0
MNDA	4332	broad.mit.edu	37	1	158815659	158815659	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:158815659T>C	ENST00000368141.4	+	5	1114	c.853T>C	c.(853-855)Tct>Cct	p.S285P		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	285	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GGAAGCATCATCTGTGTCTGA	0.348000													5	129					0	0	0.001168	0	0
SLC12A2	6558	broad.mit.edu	37	5	127486938	127486938	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:127486938C>T	ENST00000262461.2	+	14	2302	c.2113C>T	c.(2113-2115)Cgt>Tgt	p.R705C	SLC12A2_ENST00000343225.4_Missense_Mutation_p.R705C	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	705					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTTAGGATGGCGTCCTGCATT	0.348000													33	259					0	0	0.004878	0	0
DSCAML1	57453	broad.mit.edu	37	11	117392010	117392010	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:117392010G>A	ENST00000321322.6	-	6	1229	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R140C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	350	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCCGTGTTGCGATACCAGCGG	0.627000													82	136					0	0	0.003610	0	0
MYO16	23026	broad.mit.edu	37	13	109379873	109379873	+	Missense_Mutation	SNP	C	C	T	rs150729745	by1000genomes	TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr13:109379873C>T	ENST00000356711.2	+	4	509	c.383C>T	c.(382-384)aCg>aTg	p.T128M	MYO16_ENST00000251041.5_Missense_Mutation_p.T128M|MYO16_ENST00000357550.2_Missense_Mutation_p.T128M	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	128					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.T128M(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GACTTCTGGACGCCCATGCAC	0.418000													25	125					0	0	0.002780	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69046326	69046326	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:69046326G>A	ENST00000295381.3	+	9	1491	c.1072G>A	c.(1072-1074)Gat>Aat	p.D358N	ARHGAP25_ENST00000467265.1_Missense_Mutation_p.D319N|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.D352N|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.D52N|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.D352N|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.D359N|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.D351N	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	358					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CAAGTCCAAGGATATACCCCT	0.498000													8	285					0	0	0.004482	0	0
MT-CO3	4514	broad.mit.edu	37	MT	9384	9384	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrM:9384G>A	ENST00000362079.2	+	1	178	c.178G>A	c.(178-180)Gat>Aat	p.60_60insN						mitochondrially encoded cytochrome c oxidase III											breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						AATGGTGGCGCGATGTAACAC	0.458000													5	148					0	0	0.001168	0	0
MYH2	4620	broad.mit.edu	37	17	10435042	10435042	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:10435042G>A	ENST00000245503.5	-	22	2989	c.2605C>T	c.(2605-2607)Ctt>Ttt	p.L869F	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.L869F|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	869					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GACTTGGCAAGTTCGTCTTTA	0.423000													9	184					0	0	0.006214	0	0
ALG13	79868	broad.mit.edu	37	X	111002972	111002972	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:111002972G>A	ENST00000394780.3	+	27	3171	c.3159G>A	c.(3157-3159)ccG>ccA	p.P1053P	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Silent_p.P870P	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	1053					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						ATACTTTTCCGAATGCTGATT	0.408000													4	28					0	0	0.000248	0	0
MT-TL1	0	broad.mit.edu	37	MT	3244	3244	+	RNA	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrM:3244G>A	ENST00000386347.1	+	0	15																											aagatggcagagcccggtaat	0.438000													85	41					0	0	0.003610	0	0
AHNAK	79026	broad.mit.edu	37	11	62291443	62291443	+	Missense_Mutation	SNP	G	G	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:62291443G>C	ENST00000378024.4	-	5	10720	c.10446C>G	c.(10444-10446)ttC>ttG	p.F3482L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3482					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)				CAGACACACTGAATTTGGGCA	0.453000													45	173					0	0	0.002522	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													3	27					0	0	0.004672	0	0
C6orf10	10665	broad.mit.edu	37	6	32260989	32260989	+	Silent	SNP	T	T	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:32260989T>C	ENST00000375015.4	-	26	1658	c.1458A>G	c.(1456-1458)caA>caG	p.Q486Q	C6orf10_ENST00000447241.2_Silent_p.Q487Q|C6orf10_ENST00000375007.4_Silent_p.Q485Q|C6orf10_ENST00000533191.1_Silent_p.Q485Q|C6orf10_ENST00000527965.1_Silent_p.Q471Q|C6orf10_ENST00000442822.2_Intron			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	487	Lys-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CCTTCTTTTCTTGGGCTTCCT	0.378000													114	262					0	0	0.003610	0	0
SALL3	27164	broad.mit.edu	37	18	76753036	76753036	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr18:76753036G>A	ENST00000536229.3	+	1	1355	c.646G>A	c.(646-648)Ggg>Agg	p.G216R	SALL3_ENST00000537592.2_Missense_Mutation_p.G349R|SALL3_ENST00000575389.2_Missense_Mutation_p.G349R			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	349	Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCTGGCCCCGGGGTCCCTGCT	0.771000													3	10					0	0	0.000248	0	0
TFRC	7037	broad.mit.edu	37	3	195778819	195778819	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:195778819C>A	ENST00000360110.4	-	19	2446	c.2277G>T	c.(2275-2277)gaG>gaT	p.E759D	TFRC_ENST00000392396.3_Missense_Mutation_p.E759D|TFRC_ENST00000420415.1_Missense_Mutation_p.E678D|TFRC_ENST00000535031.1_Missense_Mutation_p.E477D|TFRC_ENST00000540528.1_3'UTR	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	759	Ligand-binding.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		ACATTTAAAACTCATTGTCAA	0.438000			T	BCL6	NHL								56	123					3.89483e-19	5.16065e-19	0.003610	1	0
KRT85	3891	broad.mit.edu	37	12	52760942	52760942	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:52760942C>T	ENST00000257901.3	-	1	323	c.248G>A	c.(247-249)cGc>cAc	p.R83H		NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	83	Head.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCCCCGGAGCGGTAGCCGAA	0.692000													9	60					0	0	0.003163	0	0
RNASE2	6036	broad.mit.edu	37	14	21424080	21424080	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr14:21424080C>T	ENST00000304625.2	+	2	240	c.150C>T	c.(148-150)tgC>tgT	p.C50C		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	50					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		CCCAGCAATGCACCAATGCAA	0.438000													4	210					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43323361	43323361	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr6:43323361G>A	ENST00000361428.2	-	4	1788	c.1711C>T	c.(1711-1713)Ccg>Tcg	p.P571S	ZNF318_ENST00000318149.3_Missense_Mutation_p.P571S	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	571					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)			GCTGAAGACGGCAGGGAGCTT	0.478000													6	538					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36069579	36069579	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr4:36069579G>A	ENST00000303965.4	-	33	5554	c.5065C>T	c.(5065-5067)Cgg>Tgg	p.R1689W		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1689					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GTTCTTGACCGTTGTAGAACC	0.358000													4	244					0	0	1	0	0
NUCB2	4925	broad.mit.edu	37	11	17323307	17323307	+	Missense_Mutation	SNP	A	A	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:17323307A>C	ENST00000529010.1	+	5	488	c.269A>C	c.(268-270)aAa>aCa	p.K90T	NUCB2_ENST00000458064.2_Missense_Mutation_p.K90T|NUCB2_ENST00000323688.6_Missense_Mutation_p.K90T	NM_005013.2	NP_005004.1	P80303	NUCB2_HUMAN	nucleobindin 2	90						cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGGCTAAGCAAAGAACTGGAT	0.328000													4	267					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154560618	154560618	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:154560618C>T	ENST00000368474.4	-	11	3201	c.3002G>A	c.(3001-3003)cGc>cAc	p.R1001H	ADAR_ENST00000368471.3_Missense_Mutation_p.R706H|ADAR_ENST00000292205.5_Missense_Mutation_p.R1044H	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1001	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CACCTTGGTGCGGAGCTTTCC	0.562000													7	485					0	0	1	0	0
KANSL1L	151050	broad.mit.edu	37	2	211019250	211019250	+	Silent	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:211019250T>C	ENST00000281772.9	-	2	320	c.57A>G	c.(55-57)ccA>ccG	p.P19P	KANSL1L_ENST00000429908.2_5'UTR|KANSL1L_ENST00000457374.1_Silent_p.P19P|KANSL1L_ENST00000418791.1_Silent_p.P19P|KANSL1L_ENST00000452086.1_Silent_p.P19P	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	19																	CCATGGTACTTGGCAAAGATG	0.433000													4	171					0	0	1	0	0
TRAF3IP1	26146	broad.mit.edu	37	2	239234537	239234537	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:239234537C>T	ENST00000373327.4	+	3	502	c.280C>T	c.(280-282)Cga>Tga	p.R94*	TRAF3IP1_ENST00000391993.3_Nonsense_Mutation_p.R94*|TRAF3IP1_ENST00000391994.2_Nonsense_Mutation_p.R94*	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	94	Abolishes microtubules-binding when missing.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		CAAACCAGCCCGAATCGTGGC	0.473000													4	210					0	0	1	0	0
DIS3	22894	broad.mit.edu	37	13	73335578	73335578	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr13:73335578G>T	ENST00000377767.4	-	19	2693	c.2593C>A	c.(2593-2595)Cca>Aca	p.P865T	DIS3_ENST00000377780.4_Missense_Mutation_p.P835T|DIS3_ENST00000545453.1_Missense_Mutation_p.P703T	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	865					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CCATACTTTGGAATTAATACC	0.318000										Multiple Myeloma(4;0.011)			12	66					1.36491e-13	1.5833e-13	1	1	0
RNF40	9810	broad.mit.edu	37	16	30780684	30780684	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr16:30780684G>A	ENST00000324685.6	+	16	2860	c.2425G>A	c.(2425-2427)Gag>Aag	p.E809K	RNF40_ENST00000402121.3_Missense_Mutation_p.E501K|RNF40_ENST00000357890.5_Missense_Mutation_p.E709K|RNF40_ENST00000563683.1_Missense_Mutation_p.E769K|RNF40_ENST00000567365.1_3'UTR	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	809					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GGAGAAGGATGAGTTGGGCGA	0.582000													6	78					0	0	1	0	0
CD8A	925	broad.mit.edu	37	2	87013077	87013077	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:87013077C>T	ENST00000409511.2	-	9	1704	c.674G>A	c.(673-675)gGa>gAa	p.G225E	CD8A_ENST00000538832.1_Missense_Mutation_p.G266E|CD8A_ENST00000283635.3_Missense_Mutation_p.G225E|CD8A_ENST00000352580.3_Missense_Mutation_p.G188E|CD8A_ENST00000409781.1_Missense_Mutation_p.G188E|CD8A_ENST00000456996.2_Missense_Mutation_p.G188E	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	225					antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GGGCTTGTCTCCCGATTTGAC	0.542000													6	150					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42063104	42063104	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr7:42063104C>T	ENST00000395925.3	-	10	1544	c.1460G>A	c.(1459-1461)tGc>tAc	p.C487Y	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	487					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTCCCTCGCGCAGCCTTCCCA	0.532000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				4	175					0	0	1	0	0
DPH7	92715	broad.mit.edu	37	9	140469236	140469236	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr9:140469236C>T	ENST00000277540.2	-	4	592	c.435G>A	c.(433-435)ttG>ttA	p.L145L	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1			diphthamide biosynthesis 7																		AATCTAGGGACAAAGCCAGAC	0.537000													14	91					0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9077401	9077401	+	Silent	SNP	A	A	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:9077401A>G	ENST00000457346.2	-	10	1220	c.1146T>C	c.(1144-1146)ccT>ccC	p.P382P	SCUBE2_ENST00000309263.3_Silent_p.P382P|SCUBE2_ENST00000520467.1_Silent_p.P382P|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Silent_p.P382P			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	382	EGF-like 8; calcium-binding (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CAAATGTGCCAGGGTGGTTGA	0.552000													8	663					0	0	1	0	0
TPGS2	25941	broad.mit.edu	37	18	34380218	34380218	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr18:34380218G>A	ENST00000334295.4	-	5	866	c.439C>T	c.(439-441)Ctg>Ttg	p.L147L	TPGS2_ENST00000587129.1_Silent_p.L147L|TPGS2_ENST00000590652.1_5'UTR|TPGS2_ENST00000383056.3_Silent_p.L104L|TPGS2_ENST00000593035.1_Silent_p.L112L|TPGS2_ENST00000589049.1_Silent_p.L147L|TPGS2_ENST00000590842.1_Silent_p.L147L	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	147						cytoplasm|microtubule											CATGAATCCAGCTCAAATATC	0.448000													5	946					0	0	1	0	0
PHKG2	5261	broad.mit.edu	37	16	30762868	30762868	+	Splice_Site	SNP	A	A	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr16:30762868A>G	ENST00000563588.1	+	4	510		c.e4-1		PHKG2_ENST00000328273.7_Splice_Site|PHKG2_ENST00000424889.3_Splice_Site	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)						glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)|skin(1)	2			Colorectal(24;0.198)			CTCTCTCCCTAGTCACCCTCA	0.552000													4	492					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68973015	68973015	+	Splice_Site	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr8:68973015G>A	ENST00000288368.4	+	11	1616		c.e11+1		PREX2_ENST00000529398.1_Splice_Site	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2						G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATTCACCATGGTAATTACTTT	0.343000													3	91					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182853842	182853842	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:182853842G>A	ENST00000367549.3	+	27	3465	c.3355G>A	c.(3355-3357)Gct>Act	p.A1119T	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1119					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						CAAACAACCTGCTATCATCAG	0.473000													4	106					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37188240	37188240	+	RNA	SNP	C	C	T	rs34700711	by1000genomes	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr17:37188240C>T	ENST00000425901.2	+	0	2082					NR_033753.2																						ACAGTTCAACCTCTGGACCTG	0.512000													4	113					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71498410	71498410	+	Splice_Site	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr4:71498410G>A	ENST00000396073.3	+	5	491		c.e5+1			NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin						bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CGGCCCACATGTAAGTTTTTC	0.318000													5	444					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50226667	50226667	+	Missense_Mutation	SNP	G	G	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr20:50226667G>C	ENST00000338821.5	-	24	2873	c.2609C>G	c.(2608-2610)cCt>cGt	p.P870R	ATP9A_ENST00000311637.5_Missense_Mutation_p.P734R|ATP9A_ENST00000402822.1_Missense_Mutation_p.P749R	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	870					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTGATAGAGAGGGACGGAGGC	0.423000													5	132					0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164776859	164776859	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:164776859C>T	ENST00000420696.2	+	5	970	c.782C>T	c.(781-783)cCc>cTc	p.P261L	PBX1_ENST00000540236.1_Missense_Mutation_p.P261L|PBX1_ENST00000401534.1_Missense_Mutation_p.P261L|PBX1_ENST00000560641.1_Missense_Mutation_p.P156L|PBX1_ENST00000367897.1_Missense_Mutation_p.P261L|PBX1_ENST00000559240.1_Missense_Mutation_p.P261L|PBX1_ENST00000540246.1_Missense_Mutation_p.P156L	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	261					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						AACCCTTACCCCAGTGAGGAA	0.488000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								4	172					0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75301423	75301423	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr10:75301423C>T	ENST00000339859.4	-	7	746	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	USP54_ENST00000428547.1_Intron|USP54_ENST00000408019.1_Missense_Mutation_p.A216T|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000319786.7_Missense_Mutation_p.A216T			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	216					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ATGGTGCTGGCATTCTGCAGC	0.498000													32	106					0	0	1	0	0
ZNF749	388567	broad.mit.edu	37	19	57956010	57956010	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr19:57956010G>A	ENST00000334181.4	+	3	1744	c.1494G>A	c.(1492-1494)ctG>ctA	p.L498L	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		AGGCTCATCTGGTTGGTCACC	0.458000													4	225					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18845995	18845995	+	RNA	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr22:18845995T>C	ENST00000412938.1	+	0	3353																											CATCCCGTCCTGCGCAGGCCG	0.592000													3	50					0	0	1	0	0
ZNF155	7711	broad.mit.edu	37	19	44501183	44501183	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr19:44501183C>T	ENST00000270014.2	+	5	1302	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*	ZNF155_ENST00000590615.1_Nonsense_Mutation_p.R392*|RP11-15A1.7_ENST00000589021.1_RNA|RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000407951.2_Nonsense_Mutation_p.R403*	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	Q12901	ZN155_HUMAN	zinc finger protein 155	392						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				GAACCATCAGCGAGTCCACAG	0.408000													4	315					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117392010	117392010	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:117392010G>A	ENST00000321322.6	-	6	1229	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R140C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	350	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCCGTGTTGCGATACCAGCGG	0.627000													18	85					0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1333710	1333710	+	Missense_Mutation	SNP	C	C	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:1333710C>G	ENST00000400809.3	-	3	381	c.376G>C	c.(376-378)Gcc>Ccc	p.A126P	CCNL2_ENST00000408918.4_Missense_Mutation_p.A126P	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	126	Cyclin-like 1.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TGGACACAGGCCATTGACACA	0.557000													3	53					0	0	1	0	0
ZNF749	388567	broad.mit.edu	37	19	57956012	57956012	+	Missense_Mutation	SNP	T	T	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr19:57956012T>A	ENST00000334181.4	+	3	1746	c.1496T>A	c.(1495-1497)gTt>gAt	p.V499D	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GCTCATCTGGTTGGTCACCAG	0.458000													4	222					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255477	15255477	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr10:15255477G>A	ENST00000378116.4	-	8	2116	c.2110C>T	c.(2110-2112)Cac>Tac	p.H704Y		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	704						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GCCCGGGGGTGCGGAAGCGGC	0.562000													26	89					0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102712941	102712941	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:102712941C>A	ENST00000299855.5	-	4	825	c.569G>T	c.(568-570)gGg>gTg	p.G190V		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	190					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	TCCATTAATCCCTGGCCCAGG	0.383000													3	102					6.4e-05	7.0481e-05	1	1	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													5	282					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141571365	141571365	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:141571365T>C	ENST00000389484.3	-	32	6191	c.5220A>G	c.(5218-5220)atA>atG	p.I1740M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1740					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCACATAGTCTATCGATAGAC	0.343000										TSP Lung(27;0.18)			3	79					0	0	1	0	0
FAM134A	79137	broad.mit.edu	37	2	220045807	220045807	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:220045807C>T	ENST00000430297.2	+	6	800	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	222						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGTGGCCCCTGGTGGTTTA	0.527000													6	99					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85642588	85642588	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr4:85642588G>A	ENST00000322366.6	-	46	7935	c.7528C>T	c.(7528-7530)Ctg>Ttg	p.L2510L	WDFY3_ENST00000295888.4_Silent_p.L2527L			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2527						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AACAGGCGCAGTAAGGTAGCA	0.428000													4	379					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57114554	57114554	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:57114554C>A	ENST00000454682.1	-	3	1041	c.760G>T	c.(760-762)Gtt>Ttt	p.V254F	NACA_ENST00000550952.1_Missense_Mutation_p.V254F|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_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						GAAATCAGAACTGAGGAAATG	0.517000			T	BCL6	NHL								4	318					0.150653	0.153296	1	1	0
PLEK	5341	broad.mit.edu	37	2	68608017	68608017	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:68608017C>A	ENST00000234313.7	+	3	540	c.361C>A	c.(361-363)Cca>Aca	p.P121T		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	121					actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		CATTCGACTGCCAGAAACCAT	0.453000													4	268					0.00116845	0.00123969	1	1	0
NSUN3	63899	broad.mit.edu	37	3	93802958	93802958	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:93802958C>A	ENST00000314622.4	+	3	341	c.130C>A	c.(130-132)Cta>Ata	p.L44I		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	44							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						TAGGGAGATACTAACATCTCC	0.333000													3	78					1	1	1	1	0
MYH11	4629	broad.mit.edu	37	16	15842021	15842021	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr16:15842021C>T	ENST00000338282.6	-	17	2169	c.2063G>A	c.(2062-2064)gGc>gAc	p.G688D	MYH11_ENST00000452625.2_Missense_Mutation_p.G695D|MYH11_ENST00000300036.5_Missense_Mutation_p.G688D|MYH11_ENST00000396324.3_Missense_Mutation_p.G695D|MYH11_ENST00000576790.1_Missense_Mutation_p.G688D	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	688	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ATCCAGCTTGCCGGACTGCAA	0.627000			T	CBFB	AML								4	190					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7757697	7757697	+	Missense_Mutation	SNP	A	A	G	rs138503341	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr5:7757697A>G	ENST00000338316.4	+	16	2181	c.2092A>G	c.(2092-2094)Atg>Gtg	p.M698V	ADCY2_ENST00000537121.1_Missense_Mutation_p.M518V	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	698					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.?(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CGTGTTCAACATGGTAAGTCC	0.542000													6	309					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236740143	236740143	+	Silent	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:236740143C>A	ENST00000366582.3	-	21	2976	c.2862G>T	c.(2860-2862)ctG>ctT	p.L954L	HEATR1_ENST00000366581.2_Silent_p.L954L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	954					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)			GATCTATTATCAGATAAAACG	0.443000													4	112					0.150653	0.153296	1	1	0
SRL	6345	broad.mit.edu	37	16	4242615	4242615	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr16:4242615C>T	ENST00000399609.3	-	6	973	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	SRL_ENST00000537996.1_Missense_Mutation_p.V279M	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	780	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						TTCTCGATCACCTGATTCAGG	0.547000													122	364					0	0	1	0	0
RMI2	116028	broad.mit.edu	37	16	11444621	11444621	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr16:11444621G>T	ENST00000572173.1	+	5	874	c.229G>T	c.(229-231)Gaa>Taa	p.E77*	RMI2_ENST00000381820.2_Nonsense_Mutation_p.E77*|RMI2_ENST00000312499.5_Nonsense_Mutation_p.E140*|RMI2_ENST00000576027.1_3'UTR			Q96E14	RMI2_HUMAN	RecQ mediated genome instability 2	140					DNA replication	nucleus	DNA binding			endometrium(1)|kidney(1)|ovary(1)	3						ACTGGAGGTAGAAGATTTACA	0.428000													13	285					1.61879e-10	1.84098e-10	1	1	0
GRID2	2895	broad.mit.edu	37	4	94693450	94693450	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr4:94693450G>A	ENST00000282020.4	+	16	3083	c.2825G>A	c.(2824-2826)cGc>cAc	p.R942H	GRID2_ENST00000510992.1_Missense_Mutation_p.R847H	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	942	Interaction with AP4M1 (By similarity).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ACTCTTAGCCGCACACTGTCA	0.493000													5	294					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34095955	34095955	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr20:34095955G>A	ENST00000397527.1	+	32	7562	c.6842G>A	c.(6841-6843)cGg>cAg	p.R2281Q	CEP250_ENST00000342580.4_Missense_Mutation_p.R2225Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2281					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCAGTGGCCCGGCTGGAGATT	0.582000													5	531					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123109143	123109143	+	Splice_Site	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:123109143A>T	ENST00000333479.7	+	63	6692		c.e63-1		HCAR1_ENST00000356987.2_Intron|KNTC1_ENST00000534995.1_Splice_Site|KNTC1_ENST00000436959.3_Splice_Site|KNTC1_ENST00000450485.2_Splice_Site|KNTC1_ENST00000537348.1_Splice_Site	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1						cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTGATTTTGTAGTTTAGATGA	0.463000													4	74					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50828642	50828642	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr10:50828642C>T	ENST00000395562.2	+	5	904	c.435C>T	c.(433-435)ggC>ggT	p.G145G	CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000337653.2_Silent_p.G227G|CHAT_ENST00000395559.2_Silent_p.G109G|CHAT_ENST00000339797.1_Silent_p.G109G|CHAT_ENST00000351556.3_Silent_p.G109G|CHAT_ENST00000455728.2_Silent_p.G109G	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	227					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	ACTTCCCTGGCACCGATGACC	0.597000													5	218					0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32635105	32635105	+	Missense_Mutation	SNP	G	G	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:32635105G>C	ENST00000335185.5	-	16	2802	c.2759C>G	c.(2758-2760)aCa>aGa	p.T920R		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	920										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					ACTGCTCGCTGTTTGACTTTC	0.373000													5	291					0	0	1	0	0
MORC4	79710	broad.mit.edu	37	X	106186409	106186409	+	Missense_Mutation	SNP	T	T	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chrX:106186409T>G	ENST00000355610.4	-	15	1986	c.1712A>C	c.(1711-1713)gAa>gCa	p.E571A	MORC4_ENST00000255495.7_Missense_Mutation_p.E571A|MORC4_ENST00000535534.1_Missense_Mutation_p.E319A	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	571							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						CTCCACCGGTTCTTCACCTAG	0.438000													12	196					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8999035	8999035	+	Silent	SNP	G	G	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr19:8999035G>C	ENST00000397910.4	-	57	41012	c.40809C>G	c.(40807-40809)ccC>ccG	p.P13603P	MUC16_ENST00000380951.5_Silent_p.P244P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13605				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCTAGTGGTGGGCACAGAGC	0.542000													6	153					0	0	1	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55048303	55048303	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr19:55048303C>T	ENST00000335056.3	+	5	908	c.870C>T	c.(868-870)ggC>ggT	p.G290G	KIR3DX1_ENST00000482404.1_3'UTR																endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		CAGTCCCTGGCGGGACCTATA	0.582000													6	159					0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	858848	858848	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr20:858848G>A	ENST00000381922.3	-	7	1278	c.1176C>T	c.(1174-1176)gcC>gcT	p.A392A	ANGPT4_ENST00000546022.1_Silent_p.A392A	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	392	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GTTCGTACTGGGCATAGGCCT	0.622000													4	217					0	0	1	0	0
NDUFV3	4731	broad.mit.edu	37	21	44324239	44324239	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr21:44324239G>T	ENST00000354250.2	+	3	1186	c.1117G>T	c.(1117-1119)Gat>Tat	p.D373Y	NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	0					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	AATCGTGGAAGATCAGATACC	0.572000													46	46					2.2618e-39	2.69557e-39	1	1	0
CCDC155	147872	broad.mit.edu	37	19	49900970	49900970	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr19:49900970G>A	ENST00000447857.3	+	6	668	c.463G>A	c.(463-465)Gag>Aag	p.E155K		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	155						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CCCCAGACCCGAGCTGTACCT	0.637000													5	266					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187630625	187630625	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr4:187630625T>C	ENST00000441802.2	-	2	566	c.357A>G	c.(355-357)atA>atG	p.I119M		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	119	Cadherin 1.				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						GTGCTTTCACTATCAATGTGT	0.408000										HNSCC(5;0.00058)			3	342					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154067513	154067513	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:154067513C>T	ENST00000368559.3	-	15	2156	c.2085G>A	c.(2083-2085)gcG>gcA	p.A695A	NUP210L_ENST00000271854.3_Silent_p.A695A	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	695						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTGTCTTCTCCGCATTCAATT	0.473000													5	30					0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	22005036	22005036	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr14:22005036C>T	ENST00000327430.3	-	1	314	c.20G>A	c.(19-21)cGg>cAg	p.R7Q	SALL2_ENST00000317492.5_Missense_Mutation_p.R7Q	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	7							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TTGGGGTTTCCGCTGCTTTCG	0.627000													4	330					0	0	1	0	0
DEFB116	245930	broad.mit.edu	37	20	29891091	29891091	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr20:29891091G>T	ENST00000400549.1	-	2	232	c.233C>A	c.(232-234)tCt>tAt	p.S78Y		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	78					defense response to bacterium	extracellular region				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CACATTTTTAGAACTGGTTAT	0.403000													127	1703					5.19286e-32	6.10512e-32	1	1	0
SLC22A14	9389	broad.mit.edu	37	3	38347690	38347690	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:38347690C>T	ENST00000273173.4	+	1	264	c.173C>T	c.(172-174)gCg>gTg	p.A58V	SLC22A14_ENST00000448498.1_Missense_Mutation_p.A58V	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	58						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CTCCTGGATGCGGTGGGGGAG	0.537000													5	216					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124380739	124380739	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr10:124380739G>A	ENST00000338354.3	+	41	5170	c.5064G>A	c.(5062-5064)tcG>tcA	p.S1688S	DMBT1_ENST00000330163.4_Silent_p.S1060S|DMBT1_ENST00000344338.3_Silent_p.S1678S|DMBT1_ENST00000368956.2_Silent_p.S1060S|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Silent_p.S1688S|DMBT1_ENST00000368955.3_Silent_p.S1678S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1688	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGGCCATGTCGGCCCCAGGAA	0.612000													7	333					0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2698154	2698154	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr4:2698154C>A	ENST00000324666.5	+	16	2819	c.2468C>A	c.(2467-2469)aCc>aAc	p.T823N	FAM193A_ENST00000382839.3_Missense_Mutation_p.T823N|FAM193A_ENST00000502458.1_Missense_Mutation_p.T845N|FAM193A_ENST00000505311.1_Missense_Mutation_p.T823N|FAM193A_ENST00000545951.1_Missense_Mutation_p.T823N	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	823										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TTACGGCTGACCAAGAGGAAA	0.418000													4	145					0.00909568	0.00947694	1	1	0
DEPDC7	91614	broad.mit.edu	37	11	33050304	33050304	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:33050304G>T	ENST00000311388.3	+	4	1097	c.721G>T	c.(721-723)Gat>Tat	p.D241Y	DEPDC7_ENST00000241051.3_Missense_Mutation_p.D250Y	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	250					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TAACTATCTGGATCGAGGGAT	0.403000													11	143					7.03913e-09	7.90199e-09	1	1	0
PCLO	27445	broad.mit.edu	37	7	82545232	82545232	+	Missense_Mutation	SNP	T	T	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr7:82545232T>G	ENST00000423517.2	-	7	12407	c.12070A>C	c.(12070-12072)Agt>Cgt	p.S4024R	PCLO_ENST00000333891.8_Missense_Mutation_p.S4024R|PCLO_ENST00000437081.1_Missense_Mutation_p.S744R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3955					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GATATTGGACTGCTTGCCATG	0.383000													5	471					0	0	1	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40639318	40639318	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr17:40639318T>C	ENST00000343619.4	+	10	1079	c.956T>C	c.(955-957)tTg>tCg	p.L319S	ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.L326S|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.L276S|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.L276S|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.L319S|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.L319S	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	319					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CAGAAATGCTTGATTGCAGAG	0.517000													12	257					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12421288	12421288	+	Missense_Mutation	SNP	C	C	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:12421288C>G	ENST00000397026.2	+	4	485	c.102C>G	c.(100-102)caC>caG	p.H34Q	PPARG_ENST00000397012.2_Missense_Mutation_p.H28Q|PPARG_ENST00000397015.2_Missense_Mutation_p.H28Q|PPARG_ENST00000397000.1_Missense_Mutation_p.H28Q|PPARG_ENST00000397010.2_Missense_Mutation_p.H28Q|PPARG_ENST00000539812.1_Missense_Mutation_p.H26Q|PPARG_ENST00000309576.6_Missense_Mutation_p.H28Q|PPARG_ENST00000287820.6_Missense_Mutation_p.H56Q			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	56					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	TGGAAGACCACTCCCACTCCT	0.458000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						4	276					0	0	1	0	0
LDHAL6A	160287	broad.mit.edu	37	11	18497053	18497053	+	Silent	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:18497053T>C	ENST00000280706.2	+	4	1256	c.459T>C	c.(457-459)ttT>ttC	p.F153F	TSG101_ENST00000536719.1_Intron|LDHAL6A_ENST00000396213.3_Silent_p.F153F	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	153					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			large_intestine(3)|lung(9)|urinary_tract(1)	13					NADH(DB00157)	TGAGTGGATTTCCCAAAAACC	0.383000													4	197					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38938500	38938500	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:38938500G>A	ENST00000450244.1	-	14	2437	c.2239C>T	c.(2239-2241)Cgg>Tgg	p.R747W	SCN11A_ENST00000444237.2_Missense_Mutation_p.R747W|SCN11A_ENST00000456224.3_Missense_Mutation_p.R747W|SCN11A_ENST00000302328.3_Missense_Mutation_p.R747W			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	747					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R747W(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGCCAGTGCCGTAAACATGAG	0.488000													3	102					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184039116	184039116	+	Silent	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:184039116T>C	ENST00000342981.4	+	9	1158	c.744T>C	c.(742-744)ccT>ccC	p.P248P	EIF4G1_ENST00000346169.2_Silent_p.P248P|EIF4G1_ENST00000427845.1_Silent_p.P161P|EIF4G1_ENST00000441154.1_Silent_p.P84P|EIF4G1_ENST00000434061.2_Silent_p.P52P|EIF4G1_ENST00000382330.3_Silent_p.P255P|EIF4G1_ENST00000424196.1_Silent_p.P255P|EIF4G1_ENST00000411531.1_Silent_p.P208P|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000414031.1_Silent_p.P208P|EIF4G1_ENST00000435046.2_Silent_p.P52P|EIF4G1_ENST00000319274.6_Silent_p.P248P|EIF4G1_ENST00000392537.2_Silent_p.P161P|EIF4G1_ENST00000352767.3_Silent_p.P255P|EIF4G1_ENST00000350481.5_Silent_p.P84P	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	248					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGGGCTGCCTGGCCCAGAGC	0.567000													13	195					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2976082	2976082	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr8:2976082G>A	ENST00000520002.1	-	43	6827	c.6272C>T	c.(6271-6273)cCa>cTa	p.P2091L	CSMD1_ENST00000400186.3_Missense_Mutation_p.P2091L|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2091L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2090L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2090L|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2091L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2091	Sushi 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAATGGGGGTGGATCTGGACA	0.408000													3	84					0	0	1	0	0
QPCT	25797	broad.mit.edu	37	2	37586796	37586796	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:37586796C>T	ENST00000338415.3	+	3	499	c.341C>T	c.(340-342)cCc>cTc	p.P114L	QPCT_ENST00000537448.1_Missense_Mutation_p.P65L	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	114					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				AGTCAGACACCCTATGGGTAC	0.443000													66	43					0	0	1	0	0
HRH2	3274	broad.mit.edu	37	5	175110623	175110623	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr5:175110623G>A	ENST00000231683.2	+	1	2160	c.387G>A	c.(385-387)ctG>ctA	p.L129L	HRH2_ENST00000377291.2_Silent_p.L129L	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	129					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	p.L129L(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	ACCCTGTGCTGGTCACCCCAG	0.557000													4	320					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109379873	109379873	+	Missense_Mutation	SNP	C	C	T	rs150729745	by1000genomes	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr13:109379873C>T	ENST00000356711.2	+	4	509	c.383C>T	c.(382-384)aCg>aTg	p.T128M	MYO16_ENST00000251041.5_Missense_Mutation_p.T128M|MYO16_ENST00000357550.2_Missense_Mutation_p.T128M	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	128					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.T128M(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GACTTCTGGACGCCCATGCAC	0.418000													79	199					0	0	1	0	0
LMNB1	4001	broad.mit.edu	37	5	126156695	126156695	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr5:126156695G>A	ENST00000261366.5	+	7	1615	c.1254G>A	c.(1252-1254)agG>agA	p.R418R	LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	418	Tail.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		AGCGGAAGAGGGTTGATGTGG	0.478000													16	69					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125850328	125850328	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:125850328C>T	ENST00000393434.2	-	13	1871	c.1522G>A	c.(1522-1524)Gcc>Acc	p.A508T	ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A407T|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A508T|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A518T|ALDH1L1_ENST00000393431.2_Intron	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	508	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCATCCAGGGCCTCAATGGTG	0.637000													5	71					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435766	158435766	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:158435766G>A	ENST00000289451.2	+	1	495	c.415G>A	c.(415-417)Ggg>Agg	p.G139R		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CATGGGACATGGGGTGTGTAT	0.552000													4	262					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4051776	4051776	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr7:4051776G>A	ENST00000404826.2	+	16	2468	c.2329G>A	c.(2329-2331)Gcc>Acc	p.A777T	SDK1_ENST00000389531.3_Missense_Mutation_p.A777T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	777	Fibronectin type-III 2.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AAATATAGTGGCCAGTGGGCG	0.517000													7	778					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62291443	62291443	+	Missense_Mutation	SNP	G	G	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:62291443G>C	ENST00000378024.4	-	5	10720	c.10446C>G	c.(10444-10446)ttC>ttG	p.F3482L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3482					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)				CAGACACACTGAATTTGGGCA	0.453000													10	100					0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127486938	127486938	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr5:127486938C>T	ENST00000262461.2	+	14	2302	c.2113C>T	c.(2113-2115)Cgt>Tgt	p.R705C	SLC12A2_ENST00000343225.4_Missense_Mutation_p.R705C	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	705					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTTAGGATGGCGTCCTGCATT	0.348000													19	167					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50408873	50408873	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr20:50408873G>A	ENST00000217086.4	-	2	260	c.149C>T	c.(148-150)cCa>cTa	p.P50L	SALL4_ENST00000483130.1_5'UTR|SALL4_ENST00000395997.3_Missense_Mutation_p.P50L|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	50					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P50Q(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTCATTCCCTGGGTGGTTCAC	0.547000													5	406					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34327050	34327050	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr18:34327050C>T	ENST00000257209.4	+	21	3781	c.3659C>T	c.(3658-3660)gCa>gTa	p.A1220V	FHOD3_ENST00000592128.1_Missense_Mutation_p.A199V|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1395V|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1182V|FHOD3_ENST00000359247.4_Missense_Mutation_p.A1203V|FHOD3_ENST00000591635.1_Missense_Mutation_p.A416V	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1203	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AAAGACTGTGCAGAGCGAATT	0.353000													8	701					0	0	1	0	0
FAM120B	84498	broad.mit.edu	37	6	170627847	170627847	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr6:170627847C>T	ENST00000476287.1	+	2	1477	c.1369C>T	c.(1369-1371)Ccc>Tcc	p.P457S	FAM120B_ENST00000540480.1_Missense_Mutation_p.P469S|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.P480S	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	457					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AGGCTCTGAACCCAGGCAAGA	0.473000													5	188					0	0	1	0	0
AP1G2	8906	broad.mit.edu	37	14	24033790	24033790	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr14:24033790C>T	ENST00000308724.5	-	8	1657	c.902G>A	c.(901-903)cGc>cAc	p.R301H	AP1G2_ENST00000397120.3_Missense_Mutation_p.R301H|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	301					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		AGCTGCAGAGCGGATATCCAT	0.587000													5	216					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76764091	76764091	+	Missense_Mutation	SNP	T	T	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chrX:76764091T>A	ENST00000373344.5	-	35	7431	c.7217A>T	c.(7216-7218)cAg>cTg	p.Q2406L	ATRX_ENST00000395603.3_Missense_Mutation_p.Q2368L|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2406					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AAGTATTCGCTGAACACAGCT	0.393000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						4	184					0	0	1	0	0
MT1H	4496	broad.mit.edu	37	16	56704858	56704858	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr16:56704858G>T	ENST00000332374.4	+	3	214	c.143G>T	c.(142-144)tGc>tTc	p.C48F	MT1H_ENST00000569155.1_3'UTR	NM_005951.2	NP_005942.1	P80294	MT1H_HUMAN	metallothionein 1H	48	Alpha.						metal ion binding|protein binding			lung(5)	5						GCCCAGGGCTGCATCTGCAAA	0.567000													53	97					4.10029e-35	4.8534e-35	1	1	0
RHCE	6006	broad.mit.edu	37	1	25718602	25718602	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:25718602A>G	ENST00000349320.3	-	6	857	c.469T>C	c.(469-471)Tac>Cac	p.Y157H	RHCE_ENST00000349438.4_Missense_Mutation_p.Y173H|RHCE_ENST00000413854.1_Missense_Mutation_p.Y173H|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000243186.6_Missense_Mutation_p.Y173H|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000425135.1_Missense_Mutation_p.Y173H|RHCE_ENST00000294413.7_Missense_Mutation_p.Y173H|RHCE_ENST00000374352.2_Missense_Mutation_p.Y157H			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	173						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		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;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		GCGAACACGTAGAAGTGCCTC	0.537000													5	412					0	0	1	0	0
RCHY1	25898	broad.mit.edu	37	4	76407825	76407825	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr4:76407825C>T	ENST00000324439.5	-	9	1107	c.709G>A	c.(709-711)Ggc>Agc	p.G237S	RCHY1_ENST00000512706.1_Missense_Mutation_p.G215S|RCHY1_ENST00000380840.2_Missense_Mutation_p.G197S|RCHY1_ENST00000513257.1_Missense_Mutation_p.G228S|RCHY1_ENST00000451788.1_3'UTR	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	237					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CATTTCATGCCTAATATATGA	0.348000													4	214					0	0	1	0	0
KANSL2	54934	broad.mit.edu	37	12	49061476	49061476	+	Splice_Site	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:49061476G>A	ENST00000550347.1	-	6	1565	c.1522_splice	c.e6+1	p.H508_splice	KANSL2_ENST00000357861.3_Splice_Site_p.Q130_splice|KANSL2_ENST00000420613.2_Splice_Site_p.H325_splice|KANSL2_ENST00000553086.1_Splice_Site_p.H325_splice			Q9H9L4	CL041_HUMAN	KAT8 regulatory NSL complex subunit 2	325																	AAAAAGATACGGGTAAGGCAG	0.448000													6	346					0	0	1	0	0
CIDEC	63924	broad.mit.edu	37	3	9911695	9911695	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:9911695C>T	ENST00000336832.2	-	5	564	c.425G>A	c.(424-426)cGt>cAt	p.R142H	CIDEC_ENST00000443115.1_Intron|CIDEC_ENST00000430427.1_Missense_Mutation_p.R152H|CIDEC_ENST00000455015.1_Missense_Mutation_p.R68H|CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000423850.1_Missense_Mutation_p.R68H	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	142					apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					AAACGTTACACGGGCCACATC	0.488000													6	689					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110631148	110631148	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr8:110631148G>A	ENST00000399066.3	-	2	1068	c.341C>T	c.(340-342)aCg>aTg	p.T114M	SYBU_ENST00000440310.1_Missense_Mutation_p.T117M|SYBU_ENST00000533065.1_De_novo_Start_InFrame|SYBU_ENST00000419099.1_Missense_Mutation_p.T116M|SYBU_ENST00000533895.1_Missense_Mutation_p.T116M|SYBU_ENST00000528647.1_Missense_Mutation_p.T116M|SYBU_ENST00000276646.9_Missense_Mutation_p.T117M|SYBU_ENST00000528331.1_De_novo_Start_InFrame|SYBU_ENST00000408889.3_De_novo_Start_InFrame|SYBU_ENST00000422135.1_Missense_Mutation_p.T117M|SYBU_ENST00000446070.2_Missense_Mutation_p.T116M|SYBU_ENST00000533171.1_Missense_Mutation_p.T117M|SYBU_ENST00000424158.2_Missense_Mutation_p.T122M|SYBU_ENST00000532779.1_Missense_Mutation_p.T49M|SYBU_ENST00000408908.2_Missense_Mutation_p.T117M|SYBU_ENST00000433638.1_Missense_Mutation_p.T117M	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	117	Ser-rich.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CATTCCAATCGTGCATTTCTT	0.478000													7	362					0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33287346	33287346	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr6:33287346G>A	ENST00000374542.5	-	6	1955	c.1751C>T	c.(1750-1752)aCg>aTg	p.T584M	DAXX_ENST00000414083.2_Missense_Mutation_p.T509M|DAXX_ENST00000266000.6_Missense_Mutation_p.T584M	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	584	Interaction with MAP3K5.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GGAAATGTCCGTCTCCACAGA	0.532000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								4	122					0	0	1	0	0
MMP19	4327	broad.mit.edu	37	12	56230903	56230903	+	Missense_Mutation	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:56230903A>T	ENST00000394182.1	-	4	585	c.586T>A	c.(586-588)Tca>Aca	p.S196T	MMP19_ENST00000548629.1_Missense_Mutation_p.S459T|MMP19_ENST00000409200.3_3'UTR|MMP19_ENST00000322569.4_Missense_Mutation_p.S482T			Q99542	MMP19_HUMAN	matrix metallopeptidase 19	482					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						TTCCCACCTGATGGGGTAGTG	0.522000													5	556					0	0	1	0	0
ARNT	405	broad.mit.edu	37	1	150804293	150804293	+	Splice_Site	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:150804293C>T	ENST00000358595.5	-	10	1156		c.e10+1		ARNT_ENST00000468970.1_5'UTR|ARNT_ENST00000354396.2_Splice_Site|ARNT_ENST00000505755.1_Splice_Site|ARNT_ENST00000515192.1_Splice_Site	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator						positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	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;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CACTTTCTTACCTGCTGGGGG	0.438000			T	ETV6	AML								4	36					0	0	1	0	0
MAX	4149	broad.mit.edu	37	14	65544756	65544756	+	Splice_Site	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr14:65544756T>C	ENST00000284165.6	-	4	320		c.e4-2		MAX_ENST00000556979.1_Splice_Site|MAX_ENST00000358402.4_Splice_Site|MAX_ENST00000557746.1_Splice_Site|MAX_ENST00000358664.4_Splice_Site|MAX_ENST00000555932.1_Intron|MAX_ENST00000341653.2_Intron|MAX_ENST00000557277.1_Splice_Site|MAX_ENST00000555667.1_Splice_Site|MAX_ENST00000555419.1_Splice_Site|MAX_ENST00000556443.1_Splice_Site	NM_145113.1	NP_660088.1	P61244	MAX_HUMAN	MYC associated factor X						transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		CCGGGATGCCTGTGGCAATAT	0.498000													15	68					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210560726	210560726	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:210560726A>G	ENST00000360351.4	+	7	4338	c.3832A>G	c.(3832-3834)Aaa>Gaa	p.K1278E	MAP2_ENST00000447185.1_Missense_Mutation_p.K1274E|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1278					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AAGTGAACACAAAGGAGTGAT	0.498000													21	181					0	0	1	0	0
LARP1B	55132	broad.mit.edu	37	4	129098058	129098058	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr4:129098058G>A	ENST00000326639.6	+	13	1891	c.1680G>A	c.(1678-1680)aaG>aaA	p.K560K	LARP1B_ENST00000264584.5_Intron|LARP1B_ENST00000441387.1_Silent_p.K560K|LARP1B_ENST00000354456.3_5'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	560							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						acattcccaagaaaggtaaca	0.393000													6	102					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73414294	73414294	+	Silent	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr4:73414294T>C	ENST00000286657.4	-	3	441	c.405A>G	c.(403-405)agA>agG	p.R135R	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	135					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTCTCCGGATTCTATACGTAG	0.498000													5	279					0	0	1	0	0
DTL	51514	broad.mit.edu	37	1	212273684	212273684	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:212273684C>T	ENST00000366991.4	+	14	1666	c.1352C>T	c.(1351-1353)gCc>gTc	p.A451V	DTL_ENST00000542077.1_Missense_Mutation_p.A409V|DTL_ENST00000475419.1_3'UTR	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	451					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		GCAGCTTGTGCCCCAAGCTGT	0.522000													6	301					0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155931573	155931573	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:155931573C>T	ENST00000368316.1	-	15	1733	c.1263G>A	c.(1261-1263)atG>atA	p.M421I	ARHGEF2_ENST00000368315.3_Missense_Mutation_p.M450I|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.M449I|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.M448I|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.M421I			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	449	DH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCCGAGGGTCCATGCGGTTGT	0.597000													25	59					0	0	1	0	0
ZNF24	7572	broad.mit.edu	37	18	32917436	32917436	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr18:32917436G>A	ENST00000261332.6	-	4	1046	c.867C>T	c.(865-867)agC>agT	p.S289S	ZNF24_ENST00000589881.1_3'UTR|ZNF24_ENST00000399061.3_Silent_p.S289S	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	289					myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						TGGAACTTCGGCTGAATGCTT	0.453000													4	308					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125082753	125082753	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr8:125082753T>C	ENST00000522917.1	+	30	4086	c.3880T>C	c.(3880-3882)Tgg>Cgg	p.W1294R	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.W1294R	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1294						integral to membrane				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)			TTTTGAAGACTGGGTGAAAAC	0.418000													7	201					0	0	1	0	0
MAPRE3	22924	broad.mit.edu	37	2	27245090	27245090	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:27245090G>A	ENST00000233121.2	+	2	202	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	MAPRE3_ENST00000402218.1_Missense_Mutation_p.A2T|MAPRE3_ENST00000491354.1_3'UTR|MAPRE3_ENST00000405074.3_Missense_Mutation_p.A2T			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	2				A -> P (in Ref. 7; CAA72060).	cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGGGTATGGCCGTCAATGT	0.507000													18	609					0	0	1	0	0
ANKRD28	23243	broad.mit.edu	37	3	15726732	15726732	+	Splice_Site	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:15726732C>A	ENST00000399451.2	-	21	2667		c.e21+1		ANKRD28_ENST00000383777.1_Splice_Site|ANKRD28_ENST00000497037.1_Splice_Site	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28							nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GTATACTTAACCATTGTAGCA	0.373000													31	170					2.81731e-10	3.1832e-10	1	1	0
PLSCR4	57088	broad.mit.edu	37	3	145918825	145918825	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:145918825C>A	ENST00000354952.2	-	5	634	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	PLSCR4_ENST00000446574.2_Nonsense_Mutation_p.E132*|PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000493382.1_Nonsense_Mutation_p.E132*|PLSCR4_ENST00000383083.2_Intron	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	132					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						TACATACTTTCCAGAGGCTCA	0.318000													4	111					0.00116845	0.00123969	1	1	0
PKP2	5318	broad.mit.edu	37	12	32996139	32996139	+	Missense_Mutation	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:32996139A>T	ENST00000070846.6	-	6	1511	c.1487T>A	c.(1486-1488)gTt>gAt	p.V496D	PKP2_ENST00000340811.4_Intron	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	496					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ctggtctcgaactcctgacct	0.557000													4	251					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43783270	43783270	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:43783270G>A	ENST00000372476.3	+	16	2735	c.2656G>A	c.(2656-2658)Gga>Aga	p.G886R	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.G531R	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	886	Protein kinase.				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)				TGACTTTGCGGGAGAACTGGA	0.502000													3	192					0	0	1	0	0
RPL12P38	645688	broad.mit.edu	37	17	58511256	58511256	+	RNA	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr17:58511256C>A	ENST00000588627.1	-	0	2101																											GCAAGGTTGACGATCTCATCA	0.473000													3	60					1	1	1	1	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													4	215					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92533197	92533197	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:92533197G>T	ENST00000298047.6	+	9	7035	c.7018G>T	c.(7018-7020)Gat>Tat	p.D2340Y	FAT3_ENST00000525166.1_Missense_Mutation_p.D2190Y|FAT3_ENST00000409404.2_Missense_Mutation_p.D2340Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2340	Cadherin 21.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTTCACATAGATAGCTCAAG	0.383000										TCGA Ovarian(4;0.039)			8	110					2.17888e-05	2.41481e-05	1	1	0
ITGA5	3678	broad.mit.edu	37	12	54797447	54797447	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:54797447C>T	ENST00000293379.4	-	17	1999	c.1738G>A	c.(1738-1740)Gct>Act	p.A580T	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	580					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCCTCTCGAGCCCCATTCTGG	0.627000													9	90					0	0	1	0	0
RNF113B	140432	broad.mit.edu	37	13	98828727	98828727	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr13:98828727C>T	ENST00000267291.6	-	1	792	c.764G>A	c.(763-765)aGg>aAg	p.R255K	FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000319562.6_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	255							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TATGAAACACCTGAATGGTAT	0.557000													3	111					0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74627331	74627331	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr15:74627331C>T	ENST00000321288.5	+	21	2752	c.2752C>T	c.(2752-2754)Cga>Tga	p.R918*	CCDC33_ENST00000558821.1_Nonsense_Mutation_p.R274*|CCDC33_ENST00000398814.3_Nonsense_Mutation_p.R681*|CCDC33_ENST00000268082.4_Nonsense_Mutation_p.R308*			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	884							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGACTCAGCTCGACGCTGGGG	0.577000													5	209					0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158226831	158226831	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:158226831G>A	ENST00000289429.5	+	4	1393	c.860G>A	c.(859-861)gGc>gAc	p.G287D		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	287	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		p.G287V(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	AGTCTAGAGGGCCAGGACATC	0.592000													7	155					0	0	1	0	0
OR5K4	403278	broad.mit.edu	37	3	98072960	98072960	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:98072960A>G	ENST00000354924.2	+	1	263	c.263A>G	c.(262-264)gAg>gGg	p.E88G	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TTCTTTTCTGAGGATAGAATT	0.428000													8	1371					0	0	1	0	0
GADL1	339896	broad.mit.edu	37	3	30875766	30875766	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:30875766C>T	ENST00000454381.3	-	10	957	c.911G>A	c.(910-912)tGg>tAg	p.W304*	GADL1_ENST00000282538.5_Nonsense_Mutation_p.W304*			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	304					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	TGAGCCACCCCAAGAAGCCTG	0.443000													15	160					0	0	1	0	0
TFRC	7037	broad.mit.edu	37	3	195778819	195778819	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:195778819C>A	ENST00000360110.4	-	19	2446	c.2277G>T	c.(2275-2277)gaG>gaT	p.E759D	TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.E477D|TFRC_ENST00000420415.1_Missense_Mutation_p.E678D|TFRC_ENST00000392396.3_Missense_Mutation_p.E759D	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	759	Ligand-binding.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		ACATTTAAAACTCATTGTCAA	0.438000			T	BCL6	NHL								26	82					1.2476e-16	1.45693e-16	1	1	0
BMX	660	broad.mit.edu	37	X	15540535	15540535	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chrX:15540535C>T	ENST00000357607.2	+	7	765	c.577C>T	c.(577-579)Caa>Taa	p.Q193*	BMX_ENST00000342014.6_Nonsense_Mutation_p.Q193*|BMX_ENST00000348343.6_Nonsense_Mutation_p.Q193*			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	193					cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	p.Q193K(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CACTCTAGCCCAATATGACAA	0.428000													11	275					0	0	1	0	0
PELI1	57162	broad.mit.edu	37	2	64323337	64323337	+	Silent	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:64323337T>C	ENST00000358912.4	-	6	1054	c.612A>G	c.(610-612)ggA>ggG	p.G204G		NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	204					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						CTCTCCATATTCCAGGCTTGG	0.438000													78	72					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124380756	124380756	+	Missense_Mutation	SNP	G	G	A	rs111726992		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr10:124380756G>A	ENST00000338354.3	+	41	5187	c.5081G>A	c.(5080-5082)cGg>cAg	p.R1694Q	DMBT1_ENST00000330163.4_Missense_Mutation_p.R1066Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1684Q|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1066Q|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.R1694Q|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1684Q			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1694	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGAAATGCCCGGTTTGGCCAG	0.617000													7	340					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38568017	38568017	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr21:38568017C>T	ENST00000399017.2	+	42	8006	c.5259C>T	c.(5257-5259)ggC>ggT	p.G1753G	TTC3_ENST00000354749.2_Silent_p.G1753G|TTC3_ENST00000355666.1_Silent_p.G1753G|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1753					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GCGACGATGGCCAAGGGCTTG	0.557000													4	456					0	0	1	0	0
U2SURP	23350	broad.mit.edu	37	3	142772557	142772557	+	Missense_Mutation	SNP	A	A	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:142772557A>C	ENST00000397933.2	+	25	2750	c.1468A>C	c.(1468-1470)Aag>Cag	p.K490Q	U2SURP_ENST00000493598.2_Missense_Mutation_p.K898Q|U2SURP_ENST00000473835.2_Missense_Mutation_p.K899Q			O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	899					RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						agaaagagacaagaaagataa	0.303000													3	100					0	0	1	0	0
FCRLB	127943	broad.mit.edu	37	1	161693219	161693219	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:161693219C>T	ENST00000367948.2	+	5	330	c.115C>T	c.(115-117)Cgg>Tgg	p.R39W	FCRLB_ENST00000367944.3_Missense_Mutation_p.R32W|FCRLB_ENST00000392158.1_Missense_Mutation_p.R39W|FCRLB_ENST00000367946.3_Missense_Mutation_p.R39W|FCRLB_ENST00000367945.1_Missense_Mutation_p.R32W|FCRLB_ENST00000336830.5_Missense_Mutation_p.R39W			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	39	Ig-like C2-type 1.					endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CAAAGGGGAGCGGGTAACTTT	0.557000													4	229					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39265811	39265811	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr13:39265811C>T	ENST00000280481.7	+	1	4546	c.4330C>T	c.(4330-4332)Cta>Tta	p.L1444L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1444					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AACAGACCTACTAAGCACTAG	0.473000													5	83					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													5	282					0	0	1	0	0
LMNB1	4001	broad.mit.edu	37	5	126156699	126156699	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr5:126156699G>A	ENST00000261366.5	+	7	1619	c.1258G>A	c.(1258-1260)Gat>Aat	p.D420N	LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	420	Tail.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		GAAGAGGGTTGATGTGGAAGA	0.473000													16	70					0	0	1	0	0
ZFYVE27	118813	broad.mit.edu	37	10	99498404	99498404	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr10:99498404C>T	ENST00000393677.4	+	2	374	c.170C>T	c.(169-171)gCa>gTa	p.A57V	ZFYVE27_ENST00000453958.2_Missense_Mutation_p.A57V|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.A57V|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.A57V|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.A57V|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.A57V|ZFYVE27_ENST00000357540.4_Missense_Mutation_p.A57V|ZFYVE27_ENST00000370610.3_Intron	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	57	Necessary for interaction with RAB11A and function in neurite outgrowth.				cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		TTGAAGGATGCAGGTGATGGT	0.507000													6	372					0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116042303	116042303	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr10:116042303G>T	ENST00000603594.1	+	9	1183	c.862G>T	c.(862-864)Gcc>Tcc	p.A288S	VWA2_ENST00000392982.3_Missense_Mutation_p.A288S	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	288						extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AACCCACCCTGCCACCTGCTA	0.493000													5	107					0.00307968	0.0032281	1	1	0
MACF1	23499	broad.mit.edu	37	1	39916725	39916725	+	Splice_Site	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:39916725C>T	ENST00000564288.1	+	85	21037	c.20258_splice	c.e85-1	p.Q6754_splice	MACF1_ENST00000539005.1_Splice_Site_p.Q4565_splice|MACF1_ENST00000289893.4_Splice_Site_p.Q5197_splice|MACF1_ENST00000545844.1_Splice_Site_p.Q4695_splice|MACF1_ENST00000567887.1_Splice_Site_p.Q6791_splice|MACF1_ENST00000372915.3_Splice_Site_p.Q6653_splice|MACF1_ENST00000317713.7_Splice_Site_p.Q4695_splice|MACF1_ENST00000361689.2_Splice_Site_p.Q4695_splice			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6761					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATTTCTCAGGCAGCACAAGTT	0.473000													4	207					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39889745	39889745	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:39889745C>T	ENST00000564288.1	+	61	16972	c.16195C>T	c.(16195-16197)Ctt>Ttt	p.L5399F	MACF1_ENST00000539005.1_Missense_Mutation_p.L3316F|MACF1_ENST00000289893.4_Missense_Mutation_p.L3839F|MACF1_ENST00000545844.1_Missense_Mutation_p.L3337F|MACF1_ENST00000567887.1_Missense_Mutation_p.L5436F|MACF1_ENST00000372915.3_Missense_Mutation_p.L5404F|MACF1_ENST00000317713.7_Missense_Mutation_p.L3337F|MACF1_ENST00000361689.2_Missense_Mutation_p.L3337F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5404					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGTAGACATGCTTCAAGCAGA	0.443000													6	227					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr16:90161926T>C	ENST00000567960.1	+	0	662				TUBB8P7_ENST00000564451.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													3	22					0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76817422	76817422	+	Splice_Site	SNP	A	A	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr4:76817422A>G	ENST00000286719.7	-	2	412		c.e2+1		PPEF2_ENST00000510607.1_Splice_Site	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2						detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGAAACACGTACCTCTCTCTG	0.507000											OREG0016229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	356					0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6245420	6245420	+	Missense_Mutation	SNP	A	A	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:6245420A>T	ENST00000265978.4	-	3	555	c.197T>A	c.(196-198)cTc>cAc	p.L66H	FAM160A2_ENST00000449352.2_Missense_Mutation_p.L66H|FAM160A2_ENST00000524416.1_Missense_Mutation_p.L66H	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	66					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACAGCACTGAGATCGTCTGC	0.587000													4	302					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160885464	160885464	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:160885464G>A	ENST00000283243.7	-	5	1058	c.852C>T	c.(850-852)agC>agT	p.S284S	PLA2R1_ENST00000392771.1_Silent_p.S284S	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	284	C-type lectin 1.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CTGTTTTACTGCTCATGTGCT	0.453000													3	33					0	0	1	0	0
RAB43	339122	broad.mit.edu	37	3	128840237	128840237	+	Silent	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:128840237C>A	ENST00000315150.5	-	1	396	c.96G>T	c.(94-96)acG>acT	p.T32T	RAB43_ENST00000393307.1_Silent_p.T32T|RAB43_ENST00000393308.1_Silent_p.T32T|RAB43_ENST00000476465.1_Silent_p.T32T|ISY1-RAB43_ENST00000418265.1_Intron|RAB43_ENST00000393305.1_Silent_p.T32T|RAB43_ENST00000393304.1_Silent_p.T32T	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	Q86YS6	RAB43_HUMAN	RAB43, member RAS oncogene family	32					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			kidney(2)|liver(1)|lung(2)|skin(1)	6						GCACCACGCACGTCTTGCCCA	0.667000													3	10					0.014758	0.0152851	1	1	0
ARHGAP9	64333	broad.mit.edu	37	12	57866395	57866395	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:57866395G>A	ENST00000393797.2	-	21	2563	c.2371C>T	c.(2371-2373)Cca>Tca	p.P791S	ARHGAP9_ENST00000550288.1_3'UTR|ARHGAP9_ENST00000424809.2_3'UTR|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.P720S|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.P701S|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.P517S			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	720					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TCCTGCTCTGGCCGAAACAGG	0.557000													4	120					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129189922	129189922	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chrX:129189922C>T	ENST00000540052.1	+	12	4991	c.4947C>T	c.(4945-4947)acC>acT	p.T1649T	BCORL1_ENST00000303743.5_Silent_p.T1723T|BCORL1_ENST00000218147.7_Silent_p.T1649T|BCORL1_ENST00000359304.2_Silent_p.T1519T	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1649					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TTGAAATCACCACCATGCCCA	0.592000													4	295					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158815659	158815659	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:158815659T>C	ENST00000368141.4	+	5	1114	c.853T>C	c.(853-855)Tct>Cct	p.S285P		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	285	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GGAAGCATCATCTGTGTCTGA	0.348000													3	100					0	0	1	0	0
TMX4	56255	broad.mit.edu	37	20	7982163	7982163	+	Silent	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr20:7982163G>T	ENST00000246024.2	-	3	533	c.318C>A	c.(316-318)acC>acA	p.T106T	TMX4_ENST00000530935.1_5'UTR	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	106	Thioredoxin.				cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						CTGGGAGAGTGGTGACAAAGA	0.343000													4	12					0.00116845	0.00123969	1	1	0
PUS7L	83448	broad.mit.edu	37	12	44148483	44148483	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:44148483A>G	ENST00000416848.2	-	2	1054	c.566T>C	c.(565-567)gTa>gCa	p.V189A	PUS7L_ENST00000344862.5_Missense_Mutation_p.V189A|PUS7L_ENST00000553166.1_Missense_Mutation_p.V189A|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000551923.1_Missense_Mutation_p.V189A	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	189					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		GTTTTTTCCTACAGTTACTAA	0.338000													3	253					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135286243	135286243	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr7:135286243G>T	ENST00000285968.6	+	17	2526	c.2500G>T	c.(2500-2502)Gcc>Tcc	p.A834S		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	834					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TGACACCTATGCCCCCTTTCC	0.398000													17	323					5.03518e-11	5.76396e-11	1	1	0
CYP46A1	10858	broad.mit.edu	37	14	100165849	100165849	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr14:100165849G>A	ENST00000261835.3	+	4	433	c.329G>A	c.(328-330)cGt>cAt	p.R110H	CYP46A1_ENST00000423126.2_Missense_Mutation_p.R13H	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	110					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				AAGATGTACCGTGCGCTCCAG	0.537000													8	687					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57970616	57970616	+	Silent	SNP	C	C	T	rs146703120		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:57970616C>T	ENST00000455537.2	+	20	2545	c.2271C>T	c.(2269-2271)caC>caT	p.H757H	KIF5A_ENST00000286452.5_Silent_p.H668H	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	757					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GCGAAGAACACGAGAAGAGCA	0.488000													13	264					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2817632	2817632	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr16:2817632G>A	ENST00000301740.8	+	11	7652	c.7103G>A	c.(7102-7104)aGt>aAt	p.S2368N	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2368	Ala-rich.|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						AGCCTCACCAGTGCTAGGATG	0.627000													4	94					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152278999	152278999	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:152278999C>T	ENST00000368799.1	-	3	8398	c.8363G>A	c.(8362-8364)gGa>gAa	p.G2788E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2788	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCGGGTGTCCACGAATGGT	0.602000									Ichthyosis				7	221					0	0	1	0	0
PTTG1	9232	broad.mit.edu	37	5	159851297	159851297	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr5:159851297C>T	ENST00000393964.1	+	3	733	c.330C>T	c.(328-330)gcC>gcT	p.A110A	PTTG1_ENST00000352433.5_Silent_p.A110A|PTTG1_ENST00000519287.1_3'UTR|PTTG1_ENST00000520452.1_Silent_p.A110A			O95997	PTTG1_HUMAN	pituitary tumor-transforming 1	110					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter	cytosol|nucleus	cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding			breast(1)|large_intestine(1)|lung(4)	6	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		CAGATGATGCCTATCCAGAAA	0.383000													12	596					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35547638	35547638	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr9:35547638C>T	ENST00000455600.1	+	2	1689	c.1120C>T	c.(1120-1122)Cca>Tca	p.P374S		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	374						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TGAGCCGTGCCCAGCAGTGGC	0.547000													4	108					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43837052	43837052	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr20:43837052C>A	ENST00000372781.3	+	2	1171	c.1114C>A	c.(1114-1116)Cgc>Agc	p.R372S	SEMG1_ENST00000244069.6_Missense_Mutation_p.R312S	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGTATCCCAACGCAGTATTTA	0.418000													5	194					0.00116845	0.00123969	1	1	0
SNX25	83891	broad.mit.edu	37	4	186263224	186263224	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr4:186263224C>T	ENST00000504273.1	+	12	1943	c.1649C>T	c.(1648-1650)cCc>cTc	p.P550L	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.P550L			Q9H3E2	SNX25_HUMAN	sorting nexin 25	550	PX.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TGGACGGTCCCCAGAAGGCTC	0.438000													35	247					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122161947	122161947	+	Splice_Site	SNP	C	C	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:122161947C>A	ENST00000263710.4	-	26	3122	c.2733_splice	c.e26+1	p.K911_splice	CLASP1_ENST00000455322.2_Splice_Site_p.K883_splice|CLASP1_ENST00000541377.1_Splice_Site_p.K889_splice|CLASP1_ENST00000409078.3_Splice_Site_p.K883_splice|CLASP1_ENST00000541859.1_Splice_Site_p.K644_splice|CLASP1_ENST00000397587.3_Splice_Site_p.K891_splice|CLASP1_ENST00000545861.1_Splice_Site_p.K658_splice	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	911					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TCAGACTTACCTTGCTATGAG	0.428000													3	44					1	1	1	1	0
EDC4	23644	broad.mit.edu	37	16	67914536	67914536	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr16:67914536G>A	ENST00000358933.5	+	18	2413	c.2174G>A	c.(2173-2175)aGc>aAc	p.S725N		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	725					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GCCTCCCCTAGCCGCACTCGT	0.632000													4	171					0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194157925	194157925	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:194157925G>T	ENST00000439040.1	-	20	2810	c.2019C>A	c.(2017-2019)aaC>aaA	p.N673K	ATP13A3_ENST00000256031.4_Missense_Mutation_p.N673K			Q9H7F0	AT133_HUMAN	ATPase type 13A3	673					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CTTCCAAAACGTTTTGAAAAT	0.348000													10	213					1.76689e-08	1.97077e-08	1	1	0
SLC44A4	80736	broad.mit.edu	37	6	31842504	31842504	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr6:31842504C>T	ENST00000544672.1	-	6	530	c.234G>A	c.(232-234)tgG>tgA	p.W78*	SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000229729.6_Nonsense_Mutation_p.W154*|SLC44A4_ENST00000375562.4_Intron	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	154						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	TCACCATATTCCAGGGTACCC	0.532000													29	69					0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248128995	248128995	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:248128995C>T	ENST00000366480.3	+	1	461	c.362C>T	c.(361-363)gCc>gTc	p.A121V	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GTGTTCTTGGCCCTTGGTGGA	0.443000													5	451					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63030431	63030431	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr15:63030431C>T	ENST00000561311.1	+	29	3816	c.3586C>T	c.(3586-3588)Cac>Tac	p.H1196Y	TLN2_ENST00000306829.6_Missense_Mutation_p.H1196Y|TLN2_ENST00000559908.1_3'UTR			Q9Y4G6	TLN2_HUMAN	talin 2	1196					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			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						AGCCGTCTCACACTCCTTGAA	0.493000													6	542					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35969399	35969399	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chrX:35969399G>A	ENST00000297866.5	+	5	874	c.808G>A	c.(808-810)Gca>Aca	p.A270T		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	270										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AATTAAACATGCACGTGTATA	0.418000													39	67					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2963985	2963985	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr7:2963985G>A	ENST00000396946.4	-	15	2225	c.1822C>T	c.(1822-1824)Cgc>Tgc	p.R608C		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	608					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AAGGAGTAGCGTTCGTGACTG	0.642000			Mis		DLBCL								3	122					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137756470	137756470	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr5:137756470C>T	ENST00000314358.5	+	15	3991	c.3791C>T	c.(3790-3792)gCa>gTa	p.A1264V	KDM3B_ENST00000508386.1_3'UTR|KDM3B_ENST00000394866.1_Missense_Mutation_p.A920V|KDM3B_ENST00000542866.1_Missense_Mutation_p.A296V	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1264					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AACTCCACTGCAAAGGTCTCT	0.512000													5	431					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78225248	78225248	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:78225248G>A	ENST00000397909.2	+	1	180	c.7G>A	c.(7-9)Gtt>Att	p.V3I	NAV3_ENST00000266692.7_Missense_Mutation_p.V3I|NAV3_ENST00000228327.6_Missense_Mutation_p.V3I|NAV3_ENST00000536525.2_Missense_Mutation_p.V3I			Q8IVL0	NAV3_HUMAN	neuron navigator 3	3						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGCCATGCCTGTTCTTGGGGT	0.443000										HNSCC(70;0.22)			7	675					0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57125063	57125063	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr17:57125063C>A	ENST00000376149.3	-	16	2091	c.1282G>T	c.(1282-1284)Gat>Tat	p.D428Y	TRIM37_ENST00000393066.3_Missense_Mutation_p.D550Y|TRIM37_ENST00000393065.2_Missense_Mutation_p.D516Y|TRIM37_ENST00000262294.7_Missense_Mutation_p.D550Y			O94972	TRI37_HUMAN	tripartite motif containing 37	550						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCATCAATATCATTTTCTTCT	0.353000									Mulibrey Nanism				5	60					0.00116845	0.00132882	0.021553	1	0
TNFAIP2	7127	broad.mit.edu	37	14	103598002	103598002	+	Missense_Mutation	SNP	T	T	G			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr14:103598002T>G	ENST00000560869.1	+	8	1964	c.1325T>G	c.(1324-1326)gTa>gGa	p.V442G	TNFAIP2_ENST00000451723.2_Missense_Mutation_p.V111G|TNFAIP2_ENST00000333007.1_Missense_Mutation_p.V442G			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	442					angiogenesis|cell differentiation	extracellular space		p.V442G(1)		NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			AATTGGCAGGTACCCCAGGAC	0.622000													6	19					0	0	0.033300	0	0
ARAP2	116984	broad.mit.edu	37	4	36069579	36069579	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr4:36069579G>A	ENST00000303965.4	-	33	5554	c.5065C>T	c.(5065-5067)Cgg>Tgg	p.R1689W		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1689					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GTTCTTGACCGTTGTAGAACC	0.358000													15	285					0	0	0.033300	0	0
DEPDC7	91614	broad.mit.edu	37	11	33050304	33050304	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:33050304G>T	ENST00000311388.3	+	4	1097	c.721G>T	c.(721-723)Gat>Tat	p.D241Y	DEPDC7_ENST00000241051.3_Missense_Mutation_p.D250Y	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	250					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TAACTATCTGGATCGAGGGAT	0.403000													26	174					1.17739e-12	1.48454e-12	0.108266	1	0
PELI1	57162	broad.mit.edu	37	2	64323337	64323337	+	Silent	SNP	T	T	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:64323337T>C	ENST00000358912.4	-	6	1054	c.612A>G	c.(610-612)ggA>ggG	p.G204G		NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	204					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						CTCTCCATATTCCAGGCTTGG	0.438000													117	80					0	0	0.048971	0	0
NUP210L	91181	broad.mit.edu	37	1	154067513	154067513	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:154067513C>T	ENST00000368559.3	-	15	2156	c.2085G>A	c.(2083-2085)gcG>gcA	p.A695A	NUP210L_ENST00000271854.3_Silent_p.A695A	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	695						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTGTCTTCTCCGCATTCAATT	0.473000													8	65					0	0	0.038147	0	0
TECTA	7007	broad.mit.edu	37	11	120984322	120984322	+	Missense_Mutation	SNP	G	G	A	rs150098939	byFrequency	TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:120984322G>A	ENST00000392793.1	+	6	956	c.685G>A	c.(685-687)Gag>Aag	p.E229K	TECTA_ENST00000264037.2_Missense_Mutation_p.E229K			O75443	TECTA_HUMAN	tectorin alpha	229	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AAGAACCCCCGAGATCGTGAA	0.478000													5	149					0	0	0.014758	0	0
ARNT	405	broad.mit.edu	37	1	150804293	150804293	+	Splice_Site	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:150804293C>T	ENST00000358595.5	-	10	1156		c.e10+1		ARNT_ENST00000515192.1_Splice_Site|ARNT_ENST00000505755.1_Splice_Site|ARNT_ENST00000468970.1_5'UTR|ARNT_ENST00000354396.2_Splice_Site	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator						positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	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;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CACTTTCTTACCTGCTGGGGG	0.438000			T	ETV6	AML								5	63					0	0	0.014758	0	0
MAX	4149	broad.mit.edu	37	14	65544756	65544756	+	Splice_Site	SNP	T	T	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr14:65544756T>C	ENST00000284165.6	-	4	320		c.e4-2		MAX_ENST00000358402.4_Splice_Site|MAX_ENST00000358664.4_Splice_Site|MAX_ENST00000555419.1_Splice_Site|MAX_ENST00000555667.1_Splice_Site|MAX_ENST00000557277.1_Splice_Site|MAX_ENST00000555932.1_Intron|MAX_ENST00000557746.1_Splice_Site|MAX_ENST00000341653.2_Intron|MAX_ENST00000556443.1_Splice_Site|MAX_ENST00000556979.1_Splice_Site	NM_145113.1	NP_660088.1	P61244	MAX_HUMAN	MYC associated factor X						transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		CCGGGATGCCTGTGGCAATAT	0.498000													22	96					0	0	0.055883	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													5	54					0.000602214	0.000698569	0.014758	1	0
NID1	4811	broad.mit.edu	37	1	236212062	236212062	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:236212062G>A	ENST00000264187.6	-	2	535	c.453C>T	c.(451-453)agC>agT	p.S151S	NID1_ENST00000366595.3_Silent_p.S151S	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	151	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding	p.S151S(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CAACCACCGCGCTACTAGGCT	0.577000													9	66					0	0	0.047766	0	0
RAB43	339122	broad.mit.edu	37	3	128840237	128840237	+	Silent	SNP	C	C	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:128840237C>A	ENST00000315150.5	-	1	396	c.96G>T	c.(94-96)acG>acT	p.T32T	RAB43_ENST00000476465.1_Silent_p.T32T|RAB43_ENST00000393308.1_Silent_p.T32T|RAB43_ENST00000393307.1_Silent_p.T32T|ISY1-RAB43_ENST00000418265.1_Intron|RAB43_ENST00000393305.1_Silent_p.T32T|RAB43_ENST00000393304.1_Silent_p.T32T	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	Q86YS6	RAB43_HUMAN	RAB43, member RAS oncogene family	32					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			kidney(2)|liver(1)|lung(2)|skin(1)	6						GCACCACGCACGTCTTGCCCA	0.667000													9	19					0.00621372	0.00693068	0.058154	1	0
ITGA5	3678	broad.mit.edu	37	12	54797447	54797447	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:54797447C>T	ENST00000293379.4	-	17	1999	c.1738G>A	c.(1738-1740)Gct>Act	p.A580T	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	580					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCCTCTCGAGCCCCATTCTGG	0.627000													27	203					0	0	0.099896	0	0
ATP9A	10079	broad.mit.edu	37	20	50226667	50226667	+	Missense_Mutation	SNP	G	G	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr20:50226667G>C	ENST00000338821.5	-	24	2873	c.2609C>G	c.(2608-2610)cCt>cGt	p.P870R	ATP9A_ENST00000311637.5_Missense_Mutation_p.P734R|ATP9A_ENST00000402822.1_Missense_Mutation_p.P749R	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	870					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTGATAGAGAGGGACGGAGGC	0.423000													9	88					0	0	0.047766	0	0
ANKRD28	23243	broad.mit.edu	37	3	15726732	15726732	+	Splice_Site	SNP	C	C	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:15726732C>A	ENST00000399451.2	-	21	2667		c.e21+1		ANKRD28_ENST00000383777.1_Splice_Site|ANKRD28_ENST00000497037.1_Splice_Site	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28							nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GTATACTTAACCATTGTAGCA	0.373000													40	273					2.40579e-17	3.1008e-17	0.086207	1	0
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	C	T	rs144465613	byFrequency	TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr14:23887583C>T	ENST00000355349.3	-	30	4167	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.S1335S(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662000													5	85					0	0	0.021553	0	0
FREM2	341640	broad.mit.edu	37	13	39265811	39265811	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr13:39265811C>T	ENST00000280481.7	+	1	4546	c.4330C>T	c.(4330-4332)Cta>Tta	p.L1444L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1444					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AACAGACCTACTAAGCACTAG	0.473000													20	177					0	0	0.069288	0	0
QPCT	25797	broad.mit.edu	37	2	37586796	37586796	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:37586796C>T	ENST00000338415.3	+	3	499	c.341C>T	c.(340-342)cCc>cTc	p.P114L	QPCT_ENST00000537448.1_Missense_Mutation_p.P65L	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	114					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				AGTCAGACACCCTATGGGTAC	0.443000													48	29					0	0	0.048971	0	0
MNDA	4332	broad.mit.edu	37	1	158815659	158815659	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:158815659T>C	ENST00000368141.4	+	5	1114	c.853T>C	c.(853-855)Tct>Cct	p.S285P		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	285	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GGAAGCATCATCTGTGTCTGA	0.348000													5	129					0	0	0.021553	0	0
SLC12A2	6558	broad.mit.edu	37	5	127486938	127486938	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr5:127486938C>T	ENST00000262461.2	+	14	2302	c.2113C>T	c.(2113-2115)Cgt>Tgt	p.R705C	SLC12A2_ENST00000343225.4_Missense_Mutation_p.R705C	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	705					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTTAGGATGGCGTCCTGCATT	0.348000													33	259					0	0	0.074837	0	0
DSCAML1	57453	broad.mit.edu	37	11	117392010	117392010	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:117392010G>A	ENST00000321322.6	-	6	1229	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R140C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	350	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCCGTGTTGCGATACCAGCGG	0.627000													82	136					0	0	0.048971	0	0
MYO16	23026	broad.mit.edu	37	13	109379873	109379873	+	Missense_Mutation	SNP	C	C	T	rs150729745	by1000genomes	TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr13:109379873C>T	ENST00000356711.2	+	4	509	c.383C>T	c.(382-384)aCg>aTg	p.T128M	MYO16_ENST00000357550.2_Missense_Mutation_p.T128M|MYO16_ENST00000251041.5_Missense_Mutation_p.T128M	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	128					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.T128M(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GACTTCTGGACGCCCATGCAC	0.418000													25	125					0	0	0.076483	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69046326	69046326	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:69046326G>A	ENST00000295381.3	+	9	1491	c.1072G>A	c.(1072-1074)Gat>Aat	p.D358N	ARHGAP25_ENST00000479844.1_Missense_Mutation_p.D52N|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.D352N|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.D319N|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.D352N|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.D351N|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.D359N	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	358					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CAAGTCCAAGGATATACCCCT	0.498000													8	285					0	0	0.047766	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162340	90162340	+	RNA	SNP	C	C	T	rs138169571	by1000genomes	TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr16:90162340C>T	ENST00000564451.1	+	0	1693				TUBB8P7_ENST00000567960.1_RNA														p.R358W(1)									CATCCCACTCCGGGGGCTAAA	0.478000													7	283					0	0	0.069234	0	0
MT-CO3	4514	broad.mit.edu	37	MT	9384	9384	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chrM:9384G>A	ENST00000362079.2	+	1	178	c.178G>A	c.(178-180)Gat>Aat	p.60_60insN						mitochondrially encoded cytochrome c oxidase III											breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						AATGGTGGCGCGATGTAACAC	0.458000													5	148					0	0	0.021553	0	0
MYH2	4620	broad.mit.edu	37	17	10435042	10435042	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr17:10435042G>A	ENST00000245503.5	-	22	2989	c.2605C>T	c.(2605-2607)Ctt>Ttt	p.L869F	MYH2_ENST00000397183.2_Missense_Mutation_p.L869F|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	869					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GACTTGGCAAGTTCGTCTTTA	0.423000													9	184					0	0	0.058154	0	0
ALG13	79868	broad.mit.edu	37	X	111002972	111002972	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chrX:111002972G>A	ENST00000394780.3	+	27	3171	c.3159G>A	c.(3157-3159)ccG>ccA	p.P1053P	ALG13_ENST00000251943.4_Silent_p.P870P|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	1053					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						ATACTTTTCCGAATGCTGATT	0.408000													4	28					0	0	0.009096	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	G			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr22:23006960C>G	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													4	21					0	0	0.009096	0	0
CD2	914	broad.mit.edu	37	1	117303238	117303238	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:117303238G>T	ENST00000369478.3	+	3	705	c.597G>T	c.(595-597)gaG>gaT	p.E199D		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	199	Ig-like C2-type.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CCAGTGTCGAGCCTGTCAGCT	0.557000													4	39					0.00909568	0.00995376	0.009096	1	0
AHNAK	79026	broad.mit.edu	37	11	62291443	62291443	+	Missense_Mutation	SNP	G	G	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:62291443G>C	ENST00000378024.4	-	5	10720	c.10446C>G	c.(10444-10446)ttC>ttG	p.F3482L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3482					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)				CAGACACACTGAATTTGGGCA	0.453000													45	173					0	0	0.039052	0	0
BCRP7	100133163	broad.mit.edu	37	22	18845995	18845995	+	RNA	SNP	T	T	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr22:18845995T>C	ENST00000412938.1	+	0	3353																											CATCCCGTCCTGCGCAGGCCG	0.592000													6	60					0	0	0.047766	0	0
ARMC5	79798	broad.mit.edu	37	16	31476071	31476071	+	Missense_Mutation	SNP	A	A	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr16:31476071A>C	ENST00000457010.2	+	4	2428	c.1727A>C	c.(1726-1728)aAc>aCc	p.N576T	ARMC5_ENST00000563544.1_Missense_Mutation_p.N576T|ARMC5_ENST00000412665.2_Missense_Mutation_p.N220T|ARMC5_ENST00000538189.1_Missense_Mutation_p.N608T|ARMC5_ENST00000408912.3_Missense_Mutation_p.N671T|ARMC5_ENST00000268314.4_Missense_Mutation_p.N576T	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	576							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTCACCTGCAACCCTGCCTGC	0.721000													4	28					0	0	0.058154	0	0
TFRC	7037	broad.mit.edu	37	3	195778819	195778819	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:195778819C>A	ENST00000360110.4	-	19	2446	c.2277G>T	c.(2275-2277)gaG>gaT	p.E759D	TFRC_ENST00000392396.3_Missense_Mutation_p.E759D|TFRC_ENST00000420415.1_Missense_Mutation_p.E678D|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.E477D	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	759	Ligand-binding.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		ACATTTAAAACTCATTGTCAA	0.438000			T	BCL6	NHL								56	123					3.89483e-19	5.13409e-19	0.048971	1	0
CXorf22	170063	broad.mit.edu	37	X	35969399	35969399	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chrX:35969399G>A	ENST00000297866.5	+	5	874	c.808G>A	c.(808-810)Gca>Aca	p.A270T		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	270										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AATTAAACATGCACGTGTATA	0.418000													18	59					0	0	0.038395	0	0
UVSSA	57654	broad.mit.edu	37	4	1377656	1377656	+	Missense_Mutation	SNP	A	A	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr4:1377656A>C	ENST00000389851.4	+	13	2411	c.1964A>C	c.(1963-1965)tAc>tCc	p.Y655S	UVSSA_ENST00000511216.1_Missense_Mutation_p.Y655S|UVSSA_ENST00000511563.1_Missense_Mutation_p.Y206S|UVSSA_ENST00000507531.1_Missense_Mutation_p.Y655S|UVSSA_ENST00000512728.1_Missense_Mutation_p.Y206S	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	655																	AAGAGGAGGTACCCCAGCCTC	0.602000													11	100					0	0	0.039052	0	0
KRT85	3891	broad.mit.edu	37	12	52760942	52760942	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:52760942C>T	ENST00000257901.3	-	1	323	c.248G>A	c.(247-249)cGc>cAc	p.R83H		NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	83	Head.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCCCCGGAGCGGTAGCCGAA	0.692000													9	60					0	0	0.024245	0	0
SSU72	29101	broad.mit.edu	37	1	1500119	1500120	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:1500119_1500120insG	ENST00000359060.4	-	2	283_284	c.257_258insC	c.(256-258)ctgfs	p.L86fs	SSU72_ENST00000291386.3_Intron			Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	0					mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GAGGACCACACGGGGGGTTTTT	0.505													18	1797	---	---	---	---					
ERRFI1	54206	broad.mit.edu	37	1	8074377	8074378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:8074377_8074378insG	ENST00000377482.5	-	4	504_505	c.281_282insC	c.(280-282)cctfs	p.P94fs	ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_Frame_Shift_Ins_p.F69fs	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	94					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		GAATAAGAAGAGGGGGCAAGCT	0.460													7	2194	---	---	---	---					
VPS13D	55187	broad.mit.edu	37	1	12422832	12422833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:12422832_12422833insC	ENST00000358136.3	+	51	10328_10329	c.10198_10199insC	c.(10198-10200)cccfs	p.P3400fs	VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.P3375fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3399					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGTCATCTTTGCCCCCCGTTAC	0.426													8	356	---	---	---	---					
TMEM82	388595	broad.mit.edu	37	1	16073524	16073525	+	In_Frame_Ins	INS	-	-	GAT	rs55947911	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:16073524_16073525insGAT	ENST00000375782.1	+	5	1058_1059	c.920_921insGAT	c.(919-921)act>aGATct	p.307_307T>RS	RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	307						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGTCCGCACCCTGCTTGACC	0.624													4	6	---	---	---	---					
KIAA1522	57648	broad.mit.edu	37	1	33233494	33233495	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:33233494_33233495insC	ENST00000401073.2	+	2	412_413	c.342_343insC	c.(340-345)cgccccfs	p.RP114fs	KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.RP66fs|KIAA1522_ENST00000373480.1_Frame_Shift_Ins_p.RP55fs	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	55			S -> P (in dbSNP:rs3737994).							breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAGTGGGCGACCCCCCCACCT	0.614													7	176	---	---	---	---					
AGO1	26523	broad.mit.edu	37	1	36354044	36354045	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:36354044_36354045insC	ENST00000373204.4	+	2	255_256	c.42_43insC	c.(40-45)ctccccfs	p.LP14fs	AGO1_ENST00000373206.1_5'UTR	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		GCGCTTACCTGCCCCCCCTGCA	0.569													7	111	---	---	---	---					
PIK3R3	8503	broad.mit.edu	37	1	46546323	46546324	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:46546323_46546324insC	ENST00000262741.5	-	2	894_895	c.205_206insG	c.(205-207)tatfs	p.Y69fs	PIK3R3_ENST00000420542.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000423209.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000372006.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000354242.4_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000540385.1_Frame_Shift_Ins_p.Y115fs	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	69	SH2 1.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					CCTTGAAATATCCCCCCAGTAC	0.381													13	865	---	---	---	---					
LRP8	7804	broad.mit.edu	37	1	53728210	53728211	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:53728210_53728211insC	ENST00000306052.6	-	11	1782_1783	c.1681_1682insG	c.(1681-1683)ccafs	p.P561fs	LRP8_ENST00000371454.2_Frame_Shift_Ins_p.P561fs|LRP8_ENST00000465675.1_Frame_Shift_Ins_p.P114fs|LRP8_ENST00000347547.2_Frame_Shift_Ins_p.P391fs|LRP8_ENST00000354412.3_Frame_Shift_Ins_p.P432fs	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	561					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CTTGGCCTGGTCCCCCCAGTCA	0.515													10	389	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													19	262	---	---	---	---					
DAB1	1600	broad.mit.edu	37	1	57491653	57491654	+	Splice_Site	INS	-	-	G	rs138352976		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:57491653_57491654insG	ENST00000371236.2	-	10	1049_1050		c.e10+1		DAB1_ENST00000439789.2_Splice_Site|DAB1_ENST00000371231.1_Splice_Site|DAB1_ENST00000414851.2_Splice_Site|DAB1_ENST00000371234.4_Splice_Site|DAB1_ENST00000420954.2_Splice_Site|DAB1_ENST00000485760.1_Splice_Site			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)						cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGCATACTTACGGGGGGAGAGG	0.465													9	511	---	---	---	---					
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													14	165	---	---	---	---					
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													13	227	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													13	229	---	---	---	---					
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													14	277	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145585532	145585533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													15	190	---	---	---	---					
SV2A	9900	broad.mit.edu	37	1	149885018	149885019	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:149885018_149885019insC	ENST00000369146.3	-	2	864_865	c.374_375insG	c.(373-375)gttfs	p.V125fs	SV2A_ENST00000369145.1_Frame_Shift_Ins_p.V125fs	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	125					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CATCACTCAAGCCCCCCCTTAC	0.629													7	107	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154246356	154246357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:154246356_154246357insG	ENST00000328703.7	+	3	636_637	c.423_424insG	c.(421-426)ttggggfs	p.LG141fs	HAX1_ENST00000532105.1_Frame_Shift_Ins_p.LG13fs|HAX1_ENST00000457918.2_Frame_Shift_Ins_p.LG93fs|HAX1_ENST00000483970.2_Frame_Shift_Ins_p.LG149fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	141	Involved in HCLS1 binding.		F -> L (in SCN3; mild form).			actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGGATCTTTGGGGGGGTCTT	0.554									Kostmann syndrome				7	182	---	---	---	---					
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													10	164	---	---	---	---					
OR6K3	391114	broad.mit.edu	37	1	158686981	158686982	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:158686981_158686982insT	ENST00000368146.1	-	1	971_972	c.972_973insA	c.(970-975)aatgttfs	p.NV324fs	OR6K3_ENST00000368145.1_Frame_Shift_Ins_p.NV308fs			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	324					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TTGTTCAACACTTTTTGAAGAC	0.391													7	591	---	---	---	---					
ADCY10	55811	broad.mit.edu	37	1	167865905	167865906	+	Frame_Shift_Ins	INS	-	-	G	rs35604923		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:167865905_167865906insG	ENST00000367848.1	-	7	887_888	c.390_391insC	c.(388-393)ccatttfs	p.F131fs	ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.F223fs|ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.F70fs			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	223	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAATTAAAATTGGGGGGTGGTT	0.332													9	526	---	---	---	---					
GOLT1A	127845	broad.mit.edu	37	1	204170835	204170836	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													9	280	---	---	---	---					
PIK3C2B	5287	broad.mit.edu	37	1	204438071	204438072	+	Frame_Shift_Ins	INS	-	-	G	rs115574296	by1000genomes	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:204438071_204438072insG	ENST00000367187.3	-	3	1415_1416	c.859_860insC	c.(859-861)cacfs	p.H287fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.H287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	287	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.R287fs*92(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCATAGGTGCGGGGGGGCACC	0.624													17	153	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367059.3_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													16	413	---	---	---	---					
TRIM17	51127	broad.mit.edu	37	1	228596934	228596935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:228596934_228596935insG	ENST00000366697.2	-	5	1777_1778	c.821_822insC	c.(820-822)cacfs	p.H274fs	TRIM17_ENST00000456946.2_Frame_Shift_Ins_p.H274fs|TRIM17_ENST00000295033.3_Frame_Shift_Ins_p.H274fs|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366698.2_Frame_Shift_Ins_p.H274fs			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	274					protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TGGGTCTGGTTGGGGGGGCAAC	0.579													7	67	---	---	---	---					
SIPA1L2	57568	broad.mit.edu	37	1	232650637	232650638	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													7	277	---	---	---	---					
ITSN2	50618	broad.mit.edu	37	2	24439071	24439072	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:24439071_24439072insC	ENST00000355123.4	-	32	4279_4280	c.3836_3837insG	c.(3835-3837)ggafs	p.G1279fs	AC009228.1_ENST00000430105.1_RNA|AC009228.1_ENST00000413989.1_RNA|ITSN2_ENST00000361999.3_Frame_Shift_Ins_p.G1252fs|AC009228.1_ENST00000413254.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1279	DH.			GEKMPVQ -> VDAAANS (in Ref. 6; AAD00899).	endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATCTTCTCGCCCCCGGTCTT	0.525													7	928	---	---	---	---					
PAPOLG	64895	broad.mit.edu	37	2	61021134	61021135	+	Frame_Shift_Ins	INS	-	-	C	rs140373990		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:61021134_61021135insC	ENST00000238714.3	+	19	2046_2047	c.1797_1798insC	c.(1795-1800)tcccccfs	p.SP599fs		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	599					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AAACTGTATCACCCCCCACTGT	0.401													8	210	---	---	---	---					
ANKRD36BP2	645784	broad.mit.edu	37	2	89082293	89082294	+	RNA	INS	-	-	ATTT			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:89082293_89082294insATTT	ENST00000393525.3	+	0	503																											ATTAAAGTCTCATATGTTGAAC	0.332													8	40	---	---	---	---					
SAP130	79595	broad.mit.edu	37	2	128707524	128707525	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:128707524_128707525insG	ENST00000357702.5	-	18	2924_2925	c.2793_2794insC	c.(2791-2796)ccttacfs	p.Y932fs	SAP130_ENST00000259234.6_Frame_Shift_Ins_p.Y905fs|SAP130_ENST00000259235.3_Frame_Shift_Ins_p.Y897fs	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	897	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AGCAAAGTAATGGGGGGTCTTG	0.460													7	444	---	---	---	---					
FIGN	55137	broad.mit.edu	37	2	164467542	164467543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													8	105	---	---	---	---					
SCN1A	6323	broad.mit.edu	37	2	166903319	166903321	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:166903319_166903321delCTG	ENST00000423058.2	-	9	1353_1355	c.1336_1338delCAG	c.(1336-1338)del	p.Q446del	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_In_Frame_Del_p.Q446del|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_In_Frame_Del_p.Q446del|SCN1A_ENST00000303395.4_In_Frame_Del_p.Q446del	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	446						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GTTCAATCATCTGCTGAAATTCG	0.458													45	69	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													7	274	---	---	---	---					
HECW2	57520	broad.mit.edu	37	2	197171262	197171263	+	Frame_Shift_Ins	INS	-	-	G	rs144884935	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:197171262_197171263insG	ENST00000260983.2	-	13	2945_2946	c.2763_2764insC	c.(2761-2766)cctgaafs	p.E922fs	HECW2_ENST00000409111.1_Frame_Shift_Ins_p.E566fs	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	922	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGGAACTTCACGGGGGGAGACT	0.530													7	290	---	---	---	---					
RQCD1	9125	broad.mit.edu	37	2	219449363	219449364	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:219449363_219449364insT	ENST00000273064.6	+	4	724_725	c.349_350insT	c.(349-351)tttfs	p.F117fs	RQCD1_ENST00000295701.5_Frame_Shift_Ins_p.F117fs|RQCD1_ENST00000542068.1_Frame_Shift_Ins_p.F117fs|RQCD1_ENST00000509807.2_Frame_Shift_Ins_p.F117fs	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	117					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACACATCCCACTTTTTTTGTAC	0.416													7	582	---	---	---	---					
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)cccfs	p.P404fs	INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535													15	283	---	---	---	---					
SETD5	55209	broad.mit.edu	37	3	9517294	9517295	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:9517294_9517295insC	ENST00000402466.1	+	24	4322_4323	c.3554_3555insC	c.(3553-3555)accfs	p.T1185fs	SETD5_ENST00000402198.1_Frame_Shift_Ins_p.T1283fs|SETD5_ENST00000407969.1_Frame_Shift_Ins_p.T1302fs|SETD5_ENST00000302463.6_Frame_Shift_Ins_p.T1185fs|SETD5_ENST00000406341.1_Frame_Shift_Ins_p.T1283fs			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1283	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGACCTGGAAACCCCCCCTCTC	0.550													11	259	---	---	---	---					
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs146316187		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:10088407_10088410delAGTA	ENST00000287647.3	+	15	1371	c.1278_splice	c.e15+1	p.426_splice	FANCD2_ENST00000383806.1_Splice_Site_p.426_splice|FANCD2_ENST00000383807.1_Splice_Site_p.426_splice|FANCD2_ENST00000419585.1_Splice_Site_p.426_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				36	66	---	---	---	---					
ZFYVE20	64145	broad.mit.edu	37	3	15115298	15115299	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:15115298_15115299insC	ENST00000253699.3	-	14	2958_2959	c.2345_2346insG	c.(2344-2346)gacfs	p.D782fs	ZFYVE20_ENST00000476527.2_Frame_Shift_Ins_p.D782fs	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	782	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GTCAGTCAGTGCCCCCCTTCTG	0.624													8	385	---	---	---	---					
TRANK1	9881	broad.mit.edu	37	3	36876345	36876345	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:36876345delG	ENST00000429976.2	-	20	5686	c.5439delC	c.(5437-5439)ttfs	p.F1813fs	TRANK1_ENST00000301807.6_Frame_Shift_Del_p.F1263fs|TRANK1_ENST00000428977.2_Frame_Shift_Del_p.F1263fs			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1813					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CAAAGCATCTGAAAGCGTCTT	0.388													25	95	---	---	---	---					
TRAK1	22906	broad.mit.edu	37	3	42242449	42242450	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:42242449_42242450insC	ENST00000327628.5	+	12	1730_1731	c.1330_1331insC	c.(1330-1332)cccfs	p.P444fs	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Frame_Shift_Ins_p.P386fs|TRAK1_ENST00000341421.3_Frame_Shift_Ins_p.P386fs|TRAK1_ENST00000449246.1_Frame_Shift_Ins_p.P370fs	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	444	Interaction with HGS.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CTGCGTCAGCACCCCCCGGTCC	0.594													7	221	---	---	---	---					
ALAS1	211	broad.mit.edu	37	3	52246391	52246392	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:52246391_52246392insC	ENST00000394965.2	+	11	2077_2078	c.1717_1718insC	c.(1717-1719)cccfs	p.P573fs	ALAS1_ENST00000484952.1_Frame_Shift_Ins_p.P573fs|ALAS1_ENST00000469224.1_Frame_Shift_Ins_p.P573fs|ALAS1_ENST00000310271.2_Frame_Shift_Ins_p.P573fs	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	573					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CCTACGGATTGCCCCCACCCCT	0.515													12	1927	---	---	---	---					
PRKCD	5580	broad.mit.edu	37	3	53220652	53220653	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:53220652_53220653insG	ENST00000394729.2	+	13	1621_1622	c.1293_1294insG	c.(1291-1296)aaggggfs	p.KG431fs	PRKCD_ENST00000330452.3_Frame_Shift_Ins_p.KG431fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	431	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		AGTTCCTCAACGGGGGGGACCT	0.604													7	264	---	---	---	---					
ARHGEF3	50650	broad.mit.edu	37	3	56789130	56789131	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:56789130_56789131insG	ENST00000413728.2	-	3	814_815	c.271_272insC	c.(271-273)accfs	p.T91fs	ARHGEF3_ENST00000296315.3_Frame_Shift_Ins_p.T85fs|ARHGEF3_ENST00000338458.4_Frame_Shift_Ins_p.T117fs|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000495373.1_Frame_Shift_Ins_p.T85fs|ARHGEF3_ENST00000497267.1_Frame_Shift_Ins_p.T56fs|ARHGEF3_ENST00000496106.1_Frame_Shift_Ins_p.T91fs	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	85					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GGACCAGGGTCGGGGGGCGAGG	0.579													16	644	---	---	---	---					
ROBO2	6092	broad.mit.edu	37	3	77657037	77657038	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:77657037_77657038insC	ENST00000461745.1	+	21	4125_4126	c.3225_3226insC	c.(3223-3228)ccccccfs	p.PP1075fs	ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Frame_Shift_Ins_p.PP1075fs|ROBO2_ENST00000487694.3_Frame_Shift_Ins_p.PP1091fs	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1075					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.V1079fs*22(1)|p.V1095fs*22(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCCCTCTACCTCCCCCCCCAGT	0.431													11	85	---	---	---	---					
TAGLN3	29114	broad.mit.edu	37	3	111718404	111718405	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:111718404_111718405insC	ENST00000393917.2	+	2	687_688	c.135_136insC	c.(133-138)ccccccfs	p.PP45fs	TAGLN3_ENST00000478951.1_Frame_Shift_Ins_p.PP45fs|TAGLN3_ENST00000273368.4_Frame_Shift_Ins_p.PP45fs|TAGLN3_ENST00000455401.2_Frame_Shift_Ins_p.PP45fs	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	45	CH.				central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						TAGAGCACCCGCCCCCCGGCAG	0.614													10	215	---	---	---	---					
KIAA2018	205717	broad.mit.edu	37	3	113375177	113375178	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:113375177_113375178insG	ENST00000316407.4	-	7	5761_5762	c.5351_5352insC	c.(5350-5352)cccfs	p.P1784fs	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Ins_p.P1784fs	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1784					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.P1784Q(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGTCAATTGGTGGGGGGCCAGT	0.426													8	639	---	---	---	---					
GPR156	165829	broad.mit.edu	37	3	119885959	119885960	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:119885959_119885960insC	ENST00000464295.1	-	10	2809_2810	c.2364_2365insG	c.(2362-2367)ggtggcfs	p.G789fs	GPR156_ENST00000461057.1_Frame_Shift_Ins_p.G785fs|GPR156_ENST00000315843.3_Frame_Shift_Ins_p.G789fs			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	789						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CAGGAAGCCAGCCCCCCAGTAG	0.550													7	374	---	---	---	---					
MUC13	56667	broad.mit.edu	37	3	124646628	124646629	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													8	1117	---	---	---	---					
TRH	7200	broad.mit.edu	37	3	129695642	129695643	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													11	147	---	---	---	---					
TF	7018	broad.mit.edu	37	3	133476713	133476714	+	Frame_Shift_Ins	INS	-	-	C	rs148358704		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:133476713_133476714insC	ENST00000402696.3	+	8	1456_1457	c.971_972insC	c.(970-972)gccfs	p.A324fs	TF_ENST00000264998.3_Frame_Shift_Ins_p.A197fs	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	324	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TTTTTAAAAGTCCCCCCCAGGA	0.485													7	174	---	---	---	---					
ABCC5	10057	broad.mit.edu	37	3	183700629	183700630	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													11	555	---	---	---	---					
HTR3C	170572	broad.mit.edu	37	3	183777416	183777417	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:183777416_183777417insC	ENST00000318351.1	+	7	947_948	c.913_914insC	c.(913-915)cccfs	p.P305fs		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	305						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGCCAGTGGCACCCCCCTCATC	0.584													8	481	---	---	---	---					
TMEM41A	90407	broad.mit.edu	37	3	185212517	185212518	+	Frame_Shift_Ins	INS	-	-	A	rs150885877	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:185212517_185212518insA	ENST00000421852.1	-	4	562_563	c.467_468insT	c.(466-468)tttfs	p.F156fs	TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Intron	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	156						integral to membrane				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACAA	0.446													7	236	---	---	---	---					
UBXN7	26043	broad.mit.edu	37	3	196094916	196094917	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:196094916_196094917insG	ENST00000296328.4	-	8	890_891	c.816_817insC	c.(814-819)ccaaaafs	p.PK272fs	UBXN7_ENST00000535858.1_Frame_Shift_Ins_p.PK124fs|UBXN7_ENST00000428095.1_Frame_Shift_Ins_p.PK110fs	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	272							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GCACATTTTTTGGGGGGACTGC	0.396													8	412	---	---	---	---					
LETM1	3954	broad.mit.edu	37	4	1843235	1843236	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:1843235_1843236insG	ENST00000302787.2	-	3	728_729	c.432_433insC	c.(430-435)cccagafs	p.R145fs		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	145					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			ACCACCTCTGCGGGGGGGCTGT	0.604													22	278	---	---	---	---					
FAM193A	8603	broad.mit.edu	37	4	2661592	2661593	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:2661592_2661593insC	ENST00000324666.5	+	8	1034_1035	c.683_684insC	c.(682-684)gccfs	p.A228fs	FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.A252fs|FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.A228fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGTATCATGGACCCCCCCGTCA	0.525													14	285	---	---	---	---					
LGI2	55203	broad.mit.edu	37	4	25005320	25005321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:25005320_25005321insC	ENST00000382114.4	-	8	1575_1576	c.1390_1391insG	c.(1390-1392)catfs	p.H464fs		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	464						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CAGGGTCATGGCCCCCCGGGAT	0.515													12	421	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)agafs	p.R491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505													8	426	---	---	---	---					
FBXW7	55294	broad.mit.edu	37	4	153244155	153244156	+	Frame_Shift_Ins	INS	-	-	C	rs7679116		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:153244155_153244156insC	ENST00000281708.4	-	12	3230_3231	c.2001_2002insG	c.(1999-2004)gggtggfs	p.W668fs	FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.W492fs|FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.W550fs|FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.W668fs|FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.W668fs|FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.W588fs	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	442	---	---	---	---					
SORBS2	8470	broad.mit.edu	37	4	186515043	186515044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:186515043_186515044insC	ENST00000431808.1	-	20	3693_3694	c.3130_3131insG	c.(3130-3132)accfs	p.T1044fs	RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000449407.2_Frame_Shift_Ins_p.T588fs|SORBS2_ENST00000448662.2_Frame_Shift_Ins_p.T605fs|SORBS2_ENST00000284776.7_Frame_Shift_Ins_p.T1044fs|SORBS2_ENST00000437304.2_Frame_Shift_Ins_p.T768fs|SORBS2_ENST00000319471.9_Frame_Shift_Ins_p.T675fs|SORBS2_ENST00000418609.1_Frame_Shift_Ins_p.T948fs|SORBS2_ENST00000393528.3_Frame_Shift_Ins_p.T610fs|SORBS2_ENST00000355634.5_Frame_Shift_Ins_p.T1144fs			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	1044	SH3 3.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.E1044fs*8(2)|p.E605fs*8(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TACTTACGGTTCCCCCCCACCT	0.356													15	260	---	---	---	---					
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:186997804_186997805insG	ENST00000296795.2	+	2	135_136	c.31_32insG	c.(31-33)gggfs	p.G11fs		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	11					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TATCTACTTTTGGGGGGGCCTT	0.446													15	338	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187558038	187558039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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)			13	693	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	31799540	31799541	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:31799540_31799541insC	ENST00000438447.1	+	2	573_574	c.185_186insC	c.(184-186)accfs	p.T62fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.T62fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	62					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.E65fs*34(1)|p.E65fs*21(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCTGATCACAGCCCCCCCGAAA	0.589													13	318	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	31995791	31995797	+	Frame_Shift_Del	DEL	TCACTCA	TCACTCA	-			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:31995791_31995797delTCACTCA	ENST00000438447.1	+	4	1476_1482	c.1088_1094delTCACTCA	c.(1087-1095)gafs	p.VTQ363fs	PDZD2_ENST00000282493.3_Frame_Shift_Del_p.VTQ363fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	363	PDZ 2.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCTATCGTTGTCACTCAAGTGAAGGAA	0.570													134	187	---	---	---	---					
FYB	2533	broad.mit.edu	37	5	39202090	39202091	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:39202090_39202091insC	ENST00000351578.6	-	2	1162_1163	c.972_973insG	c.(970-975)ggcatgfs	p.M325fs	FYB_ENST00000515010.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.M335fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.M325fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	325					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	p.P325A(3)|p.P335A(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGCCCCATGGCCCCCCCACTG	0.540													7	118	---	---	---	---					
MOCS2	4338	broad.mit.edu	37	5	52402939	52402940	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:52402939_52402940insG	ENST00000361377.4	-	3	293_294	c.252_253insC	c.(250-255)ccttagfs	p.*85fs	MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000396954.3_Frame_Shift_Ins_p.L22fs|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.*85fs			O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	85					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCTCCACTAATGGGGGGGATAA	0.426													11	235	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													20	500	---	---	---	---					
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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	138	---	---	---	---					
POLK	51426	broad.mit.edu	37	5	74869655	74869656	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:74869655_74869656insC	ENST00000241436.4	+	5	673_674	c.501_502insC	c.(499-504)gtccccfs	p.VP167fs	POLK_ENST00000504026.1_Frame_Shift_Ins_p.VP167fs|POLK_ENST00000380481.3_Frame_Shift_Ins_p.VP77fs|POLK_ENST00000508526.1_Frame_Shift_Ins_p.VP167fs|POLK_ENST00000352007.5_Frame_Shift_Ins_p.VP167fs|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000515295.1_Frame_Shift_Ins_p.VP167fs	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	167	UmuC.				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TTATAATAGTGCCCCCCAACTT	0.441								DNA polymerases (catalytic subunits)					7	219	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:127648336_127648337insG	ENST00000508053.1	-	43	5842_5843	c.4868_4869insC	c.(4867-4869)cgtfs	p.R1623fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs			P35556	FBN2_HUMAN	fibrillin 2	1623	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.P1623P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCTATTGACAGGGGGGCATGT	0.505													8	665	---	---	---	---					
SLC22A5	6584	broad.mit.edu	37	5	131722730	131722731	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:131722730_131722731insC	ENST00000245407.3	+	5	1059_1060	c.838_839insC	c.(838-840)cccfs	p.P280fs	SLC22A5_ENST00000435065.2_Frame_Shift_Ins_p.P304fs	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	280					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	CATCCCTGAGTCCCCCCGATGG	0.545											OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	713	---	---	---	---					
EGR1	1958	broad.mit.edu	37	5	137803131	137803132	+	Frame_Shift_Ins	INS	-	-	C	rs148475837		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													8	105	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)ggggatfs	p.D763fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCTGGATCCTCCCCCCAGCGA	0.579													12	591	---	---	---	---					
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:141336747_141336748insG	ENST00000231484.3	-	1	1879_1880	c.669_670insC	c.(667-672)ccagtcfs	p.V224fs		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	224	Cadherin 2.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTCC	0.480													13	248	---	---	---	---					
PPP2R2B	5521	broad.mit.edu	37	5	145969651	145969652	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:145969651_145969652insC	ENST00000394413.3	-	9	1760_1761	c.1190_1191insG	c.(1189-1191)gaafs	p.E397fs	PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.E455fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.E463fs|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.E403fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.E400fs|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.E386fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000530902.1_5'UTR			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													7	666	---	---	---	---					
SLC6A7	6534	broad.mit.edu	37	5	149580754	149580755	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:149580754_149580755insC	ENST00000230671.2	+	6	1197_1198	c.826_827insC	c.(826-828)cccfs	p.P276fs	SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.P276fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	276						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GTTCTATCTCACCCCCCAGTTC	0.634													9	213	---	---	---	---					
SLC6A7	6534	broad.mit.edu	37	5	149581960	149581961	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:149581960_149581961insG	ENST00000230671.2	+	7	1280_1281	c.909_910insG	c.(907-912)ttggggfs	p.LG303fs	SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.LG303fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	303						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GTGTGGGCTTCGGGGGGCTCCT	0.569													16	544	---	---	---	---					
GALNT10	55568	broad.mit.edu	37	5	153756009	153756010	+	Frame_Shift_Ins	INS	-	-	C	rs139479065		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:153756009_153756010insC	ENST00000297107.6	+	5	878_879	c.741_742insC	c.(739-744)ctccccfs	p.LP247fs	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000425427.2_Frame_Shift_Ins_p.LP247fs|GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000377661.2_Intron	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	247	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TCAACTGGCTTCCCCCCTTGCT	0.584													7	254	---	---	---	---					
DOCK2	1794	broad.mit.edu	37	5	169141139	169141140	+	Frame_Shift_Ins	INS	-	-	G	rs34864600	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:169141139_169141140insG	ENST00000256935.8	+	18	1847_1848	c.1767_1768insG	c.(1765-1770)gtggggfs	p.VG589fs	DOCK2_ENST00000520908.1_Frame_Shift_Ins_p.VG81fs|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	589	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGCAGTGTTGGGGGGCTTTC	0.545													10	381	---	---	---	---					
KIAA1191	57179	broad.mit.edu	37	5	175774701	175774702	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:175774701_175774702insG	ENST00000298569.4	-	9	1352_1353	c.819_820insC	c.(817-822)ccagatfs	p.D274fs	KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.D255fs|KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.D274fs	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	KIAA1191	274							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)		ATGTCCATCTTGGGGGGCTTCA	0.579													7	345	---	---	---	---					
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Frame_Shift_Ins	INS	-	-	C	rs55808116		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:10557409_10557410insC	ENST00000316170.3	+	1	1170_1171	c.753_754insC	c.(751-756)ccccccfs	p.PP251fs	GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000397423.2_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	253						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGAAACCGCCTCCCCCCCATAA	0.485													18	369	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599													9	110	---	---	---	---					
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													19	1147	---	---	---	---					
GABBR1	2550	broad.mit.edu	37	6	29577143	29577144	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:29577143_29577144insG	ENST00000377034.4	-	15	2056_2057	c.1721_1722insC	c.(1720-1722)cgcfs	p.R574fs	GABBR1_ENST00000376977.3_Intron|GABBR1_ENST00000355973.3_Frame_Shift_Ins_p.R457fs|GABBR1_ENST00000377016.4_Frame_Shift_Ins_p.R512fs|GABBR1_ENST00000377012.4_Frame_Shift_Ins_p.R457fs	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	574					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	TCTGGTCAGCTGGGGGGGACCC	0.540													7	172	---	---	---	---					
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:29627216_29627217insC	ENST00000376894.4	+	2	327_328	c.209_210insC	c.(208-210)cccfs	p.P70fs	MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000490427.1_Intron|MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|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_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000483013.1_Intron			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													13	259	---	---	---	---					
C6orf25	80739	broad.mit.edu	37	6	31692528	31692529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:31692528_31692529insC	ENST00000375809.3	+	5	558_559	c.547_548insC	c.(547-549)cccfs	p.P183fs	C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TTCAGCTCTGTCCCCCCCACAT	0.579													13	236	---	---	---	---					
VARS	7407	broad.mit.edu	37	6	31759454	31759455	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:31759454_31759455insG	ENST00000375663.3	-	8	1472_1473	c.1032_1033insC	c.(1030-1035)ccatgtfs	p.C345fs	VARS_ENST00000444930.2_Frame_Shift_Ins_p.C50fs	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	345					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CCTGTCACATTGGGGGGTGGGA	0.564													8	156	---	---	---	---					
RING1	6015	broad.mit.edu	37	6	33178989	33178990	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:33178989_33178990insG	ENST00000374656.4	+	5	718_719	c.510_511insG	c.(508-513)agggggfs	p.RG170fs	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	170	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CAACGATGAGTGGGGGGGAAGG	0.619													9	282	---	---	---	---					
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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				47	660	---	---	---	---					
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													14	444	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)gcafs	p.A623fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401													23	351	---	---	---	---					
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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	364	---	---	---	---					
CARD11	84433	broad.mit.edu	37	7	2968322	2968323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:2968322_2968323insG	ENST00000396946.4	-	13	2066_2067	c.1663_1664insC	c.(1663-1665)gagfs	p.E555fs		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	555					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.R548L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCTGCGGCTCCGGGGGGGCTGC	0.589			Mis		DLBCL								12	357	---	---	---	---					
PMS2CL	441194	broad.mit.edu	37	7	6759412	6759413	+	RNA	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:6759412_6759413insG	ENST00000486256.1	+	0	346					NR_002217.1																						GTGTGCCTCCCGGGGGGGAGGT	0.569													9	126	---	---	---	---					
NUPL2	11097	broad.mit.edu	37	7	23224772	23224773	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:23224772_23224773insG	ENST00000258742.5	+	2	464_465	c.205_206insG	c.(205-207)gggfs	p.G69fs	NUPL2_ENST00000410002.3_Frame_Shift_Ins_p.G69fs|NUPL2_ENST00000487595.1_3'UTR|AC005082.1_ENST00000366347.4_Intron	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	69					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCACACCATGGGGGGGCAGC	0.406													14	186	---	---	---	---					
CLIP2	7461	broad.mit.edu	37	7	73731900	73731901	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:73731900_73731901insC	ENST00000223398.6	+	2	351_352	c.24_25insC	c.(22-27)aaccccfs	p.NP8fs	CLIP2_ENST00000361545.5_Frame_Shift_Ins_p.NP8fs|CLIP2_ENST00000395060.1_Frame_Shift_Ins_p.NP8fs	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	8						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCGGCCTGAAGCCCCCCGGCCG	0.668													7	319	---	---	---	---					
STAG3L1	54441	broad.mit.edu	37	7	74991539	74991539	+	RNA	DEL	C	C	-			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:74991539delC	ENST00000402225.5	+	0	434							P0CL83	ST3L1_HUMAN								nucleus	binding										AGAGCATGttctttttttttt	0.418													2	4	---	---	---	---					
SPDYE3	441272	broad.mit.edu	37	7	99912173	99912174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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	631	---	---	---	---					
FBXO24	26261	broad.mit.edu	37	7	100187685	100187686	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:100187685_100187686insC	ENST00000241071.6	+	2	447_448	c.125_126insC	c.(124-126)tccfs	p.S42fs	FBXO24_ENST00000360609.2_Frame_Shift_Ins_p.S42fs|FBXO24_ENST00000465843.1_Frame_Shift_Ins_p.S42fs|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Frame_Shift_Ins_p.S80fs|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000468962.1_Frame_Shift_Ins_p.S30fs	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													10	552	---	---	---	---					
CPED1	79974	broad.mit.edu	37	7	120911387	120911388	+	Frame_Shift_Ins	INS	-	-	A	rs141494536	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:120911387_120911388insA	ENST00000310396.5	+	22	3238_3239	c.2771_2772insA	c.(2770-2772)gaafs	p.E924fs		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		CTGGATACTGCAAAAAAACATG	0.351													7	413	---	---	---	---					
CCDC136	64753	broad.mit.edu	37	7	128457829	128457830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:128457829_128457830insC	ENST00000297788.4	+	17	3748_3749	c.3381_3382insC	c.(3379-3384)aaccccfs	p.NP1127fs	CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.NP407fs|CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.NP488fs|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.NP419fs	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1127						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTACCCCCAATCCCCCCATCTT	0.520													7	960	---	---	---	---					
CPA1	1357	broad.mit.edu	37	7	130023239	130023240	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:130023239_130023240insG	ENST00000011292.3	+	5	641_642	c.491_492insG	c.(490-492)aggfs	p.R164fs	CPA1_ENST00000484324.1_Frame_Shift_Ins_p.R76fs	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	164					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CAGTTCAGCACGGGGGGCAGTA	0.614													8	215	---	---	---	---					
KDM7A	80853	broad.mit.edu	37	7	139820279	139820280	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:139820279_139820280insC	ENST00000397560.2	-	8	1198_1199	c.1101_1102insG	c.(1099-1104)ggacttfs	p.L368fs	JHDM1D_ENST00000006967.5_Frame_Shift_Ins_p.L368fs	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		368	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TGCAGGAAGTTCCCCCCAAAAG	0.356													8	227	---	---	---	---					
TRBV4-2	28616	broad.mit.edu	37	7	142045511	142045512	+	RNA	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:142045511_142045512insC	ENST00000390392.3	+	0	160																											TTTGTCCCTTTCCCCCCGCAGT	0.485													7	669	---	---	---	---					
BNC2	54796	broad.mit.edu	37	9	16436374	16436375	+	Frame_Shift_Ins	INS	-	-	G	rs116528562	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr9:16436374_16436375insG	ENST00000380672.4	-	6	1874_1875	c.1817_1818insC	c.(1816-1818)cccfs	p.P606fs	BNC2_ENST00000380667.2_Frame_Shift_Ins_p.P539fs|BNC2_ENST00000380666.2_Frame_Shift_Ins_p.P606fs|BNC2_ENST00000545497.1_Frame_Shift_Ins_p.P511fs	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	606	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CAGAGGGTGGCGGGGGGTGCTG	0.564													11	380	---	---	---	---					
RECK	8434	broad.mit.edu	37	9	36112460	36112461	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr9:36112460_36112461insA	ENST00000377966.3	+	16	2613_2614	c.2047_2048insA	c.(2047-2049)aaafs	p.K683fs		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	683						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TAATCCCTGCCAAAAAAACCAA	0.416													32	1621	---	---	---	---					
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													8	148	---	---	---	---					
ZNF462	58499	broad.mit.edu	37	9	109691601	109691602	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr9:109691601_109691602insG	ENST00000277225.5	+	3	5697_5698	c.5408_5409insG	c.(5407-5409)tggfs	p.W1803fs	ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs|ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1803					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCCAGCAAGTTGGGGGGCTACT	0.550													8	173	---	---	---	---					
TNC	3371	broad.mit.edu	37	9	117797538	117797539	+	Frame_Shift_Ins	INS	-	-	G	rs148674204	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr9:117797538_117797539insG	ENST00000350763.4	-	22	6142_6143	c.5731_5732insC	c.(5731-5733)ggcfs	p.G1911fs	TNC_ENST00000346706.3_Frame_Shift_Ins_p.G1365fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.G1547fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.G1729fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.G1456fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.G1638fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.G1548fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1911	Fibronectin type-III 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACTGATGCCCGGGGGGGTCGC	0.475													12	274	---	---	---	---					
SEC16A	9919	broad.mit.edu	37	9	139345822	139345823	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr9:139345822_139345823insG	ENST00000313050.7	-	21	6270_6271	c.6197_6198insC	c.(6196-6198)cggfs	p.R2066fs	SEC16A_ENST00000371706.3_Frame_Shift_Ins_p.R1888fs|SEC16A_ENST00000431893.2_Frame_Shift_Ins_p.R1888fs|SEC16A_ENST00000290037.6_Frame_Shift_Ins_p.R1888fs	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1888	Pro-rich.|Required for interaction with SEC23A.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GATCCCACCCTGGGGGGGCCTC	0.629													7	32	---	---	---	---					
FAM171A1	221061	broad.mit.edu	37	10	15262984	15262985	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:15262984_15262985insG	ENST00000378116.4	-	6	835_836	c.829_830insC	c.(829-831)gttfs	p.V277fs	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	277						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GTACCCCAACTGGGGGGCAATG	0.564													7	310	---	---	---	---					
CUBN	8029	broad.mit.edu	37	10	16877089	16877090	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:16877089_16877090insG	ENST00000377833.4	-	64	10350_10351	c.10285_10286insC	c.(10285-10287)gaafs	p.E3429fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3429	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTGTGGTTCTGGGGGGCTGTG	0.450													7	326	---	---	---	---					
MKX	283078	broad.mit.edu	37	10	28023574	28023575	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:28023574_28023575insG	ENST00000375790.5	-	5	1080_1081	c.648_649insC	c.(646-651)ccaatafs	p.I217fs	MKX_ENST00000419761.1_Frame_Shift_Ins_p.I217fs			Q8IYA7	MKX_HUMAN	mohawk homeobox	217					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P216P(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CTCTTGTATTTGGGGGGTGCCA	0.485													12	403	---	---	---	---					
ZEB1	6935	broad.mit.edu	37	10	31809832	31809833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:31809832_31809833insG	ENST00000446923.2	+	7	1912_1913	c.1521_1522insG	c.(1519-1524)gaggggfs	p.EG507fs	ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs|ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs|ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs|ZEB1_ENST00000559858.1_3'UTR	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													12	382	---	---	---	---					
FAM21EP	100421577	broad.mit.edu	37	10	51820739	51820740	+	RNA	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:51820739_51820740insG	ENST00000456967.1	-	0	1397					NR_038275.1																						TTGCCAATCCTGGGGGGCTTCC	0.485													11	616	---	---	---	---					
FAM21EP	100421577	broad.mit.edu	37	10	51821327	51821328	+	RNA	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:51821327_51821328insG	ENST00000456967.1	-	0	1306_1307					NR_038275.1																						TCGGTCAGCTTGGGGGGTGCGA	0.520													11	554	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1366_splice	c.e11-1	p.VP456_splice	SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_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													41	695	---	---	---	---					
HECTD2	143279	broad.mit.edu	37	10	93272060	93272061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:93272060_93272061insC	ENST00000446394.1	+	22	2362_2363	c.2262_2263insC	c.(2260-2265)ctccccfs	p.LP754fs	HECTD2_ENST00000371667.1_Frame_Shift_Ins_p.LP400fs|HECTD2_ENST00000536715.1_Frame_Shift_Ins_p.LP339fs|HECTD2_ENST00000298068.5_Frame_Shift_Ins_p.LP750fs			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	750	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AACTTTGCCTTCCCCCCTACAA	0.356													8	519	---	---	---	---					
TLL2	7093	broad.mit.edu	37	10	98164994	98164995	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:98164994_98164995insG	ENST00000357947.3	-	10	1486_1487	c.1261_1262insC	c.(1261-1263)tttfs	p.F421fs	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	421	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CTTACCCAAAAGGGGGGCTTTT	0.480													8	511	---	---	---	---					
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													23	937	---	---	---	---					
SEC31B	25956	broad.mit.edu	37	10	102265153	102265154	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:102265153_102265154insG	ENST00000370345.3	-	10	1240_1241	c.1143_1144insC	c.(1141-1146)ccaatgfs	p.M382fs	SEC31B_ENST00000451524.1_Frame_Shift_Ins_p.M382fs	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	382					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CTAATCCATTTGGGGGGTTTTT	0.490													7	532	---	---	---	---					
BTRC	8945	broad.mit.edu	37	10	103310572	103310573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:103310572_103310573insC	ENST00000370187.3	+	14	1891_1892	c.1773_1774insC	c.(1771-1776)gaccccfs	p.DP591fs	BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs|BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs|BTRC_ENST00000493877.1_3'UTR	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	591					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTTC	0.431													12	416	---	---	---	---					
TRUB1	142940	broad.mit.edu	37	10	116730191	116730192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:116730191_116730192insC	ENST00000298746.3	+	5	649_650	c.588_589insC	c.(586-591)gtccccfs	p.VP196fs		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	196					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TAATGCAAGTGCCCCCCCTGTA	0.317													11	179	---	---	---	---					
SLC18A2	6571	broad.mit.edu	37	10	119014791	119014792	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr10:119014791_119014792insC	ENST00000298472.5	+	7	847_848	c.704_705insC	c.(703-705)gccfs	p.A235fs	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	235					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CCTGCAGTGGGCCCCCCCTTCG	0.569													9	112	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6662141	6662142	+	Frame_Shift_Ins	INS	-	-	G	rs143767864	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:6662141_6662142insG	ENST00000299441.3	-	2	1114_1115	c.703_704insC	c.(703-705)gagfs	p.E235fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	235	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R235Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGAA	0.589													7	136	---	---	---	---					
EIF4G2	1982	broad.mit.edu	37	11	10820934	10820935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:10820934_10820935insG	ENST00000526148.1	-	20	2871_2872	c.2361_2362insC	c.(2359-2364)ccgcgafs	p.R788fs	EIF4G2_ENST00000525681.1_Frame_Shift_Ins_p.R788fs|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Frame_Shift_Ins_p.R750fs|EIF4G2_ENST00000339995.5_Frame_Shift_Ins_p.R788fs	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	788	W2.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.S788R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTTTCATCGCTGGGGGGGTTTA	0.406													7	142	---	---	---	---					
LRP4	4038	broad.mit.edu	37	11	46880747	46880748	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													12	214	---	---	---	---					
SSRP1	6749	broad.mit.edu	37	11	57093916	57093917	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:57093916_57093917insG	ENST00000278412.2	-	17	2360_2361	c.2094_2095insC	c.(2092-2097)ccgctcfs	p.L699fs	RP11-872D17.4_ENST00000534162.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	699	Ser-rich.				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TCCTCTGAGCTGGGGGGAGTAC	0.540													8	291	---	---	---	---					
SLC43A3	29015	broad.mit.edu	37	11	57185234	57185235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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_ENST00000395124.1_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	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	220					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TAGCTGTAGTTGGGGGGCAGTG	0.564													11	289	---	---	---	---					
PATL1	219988	broad.mit.edu	37	11	59425145	59425146	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:59425145_59425146insG	ENST00000300146.9	-	5	562_563	c.478_479insC	c.(478-480)gggfs	p.G160fs		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	160	Pro-rich.|Region N; interaction with decapping machinery.			Q -> H (in Ref. 2; BAG54601).	cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TTCTGGACCCTGGGGGGGCCTC	0.455													11	250	---	---	---	---					
DDB1	1642	broad.mit.edu	37	11	61093159	61093160	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:61093159_61093160insC	ENST00000301764.7	-	6	1082_1083	c.685_686insG	c.(685-687)catfs	p.H229fs	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	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)					8	65	---	---	---	---					
DDB1	1642	broad.mit.edu	37	11	61094367	61094368	+	Splice_Site	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:61094367_61094368insG	ENST00000301764.7	-	5	947		c.e5-2		DDB1_ENST00000545930.1_Splice_Site|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa						cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGAGGGTCCTGGGGGGGAAAG	0.515								Nucleotide excision repair (NER)					8	185	---	---	---	---					
CPSF7	79869	broad.mit.edu	37	11	61183884	61183885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:61183884_61183885insG	ENST00000340437.4	-	6	866_867	c.786_787insC	c.(784-789)ccgtgtfs	p.C263fs	CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000448745.1_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													10	554	---	---	---	---					
MYRF	745	broad.mit.edu	37	11	61539012	61539013	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:61539012_61539013insC	ENST00000278836.5	+	6	877_878	c.781_782insC	c.(781-783)cccfs	p.P261fs	MYRF_ENST00000265460.5_Frame_Shift_Ins_p.P252fs|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor									p.S255fs*74(1)									GCACTCTGAATCCCCCCCCAGC	0.634													8	53	---	---	---	---					
HRASLS5	117245	broad.mit.edu	37	11	63257814	63257815	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:63257814_63257815insG	ENST00000539221.1	-	2	302_303	c.169_170insC	c.(169-171)tgafs	p.*57fs	HRASLS5_ENST00000540857.1_Intron|HRASLS5_ENST00000301790.4_Frame_Shift_Ins_p.*57fs			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	57										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TTCTAATTCAAGGGGGGAAATG	0.564													9	479	---	---	---	---					
DPP3	10072	broad.mit.edu	37	11	66272154	66272155	+	Frame_Shift_Ins	INS	-	-	C	rs142447712		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:66272154_66272155insC	ENST00000532677.1	+	17	2408_2409	c.2007_2008insC	c.(2005-2010)gcccccfs	p.AP669fs	DPP3_ENST00000531863.1_Frame_Shift_Ins_p.AP670fs|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000360510.2_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.AP620fs	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	650					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCACTGATGCGCCCCCCGAGTG	0.579													7	198	---	---	---	---					
NUMA1	4926	broad.mit.edu	37	11	71746964	71746965	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:71746964_71746965insC	ENST00000393695.3	-	3	356_357	c.25_26insG	c.(25-27)tgcfs	p.C9fs	NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.C9fs|NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.C9fs	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	9					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GAGGAGTGCAGCCCCCCGGGTG	0.505			T	RARA	APL								8	290	---	---	---	---					
MYO7A	4647	broad.mit.edu	37	11	76873960	76873961	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:76873960_76873961insC	ENST00000409709.3	+	14	1888_1889	c.1616_1617insC	c.(1615-1617)accfs	p.T539fs	MYO7A_ENST00000409893.1_Frame_Shift_Ins_p.T539fs|MYO7A_ENST00000409619.2_Frame_Shift_Ins_p.T528fs|MYO7A_ENST00000458637.2_Frame_Shift_Ins_p.T539fs	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	539	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.K542fs*80(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCCAACTACATCCCCCCCAAGA	0.564													23	252	---	---	---	---					
RSF1	51773	broad.mit.edu	37	11	77412023	77412024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:77412023_77412024insG	ENST00000308488.6	-	6	2552_2553	c.2250_2251insC	c.(2248-2253)ccaagtfs	p.S751fs	RSF1_ENST00000480887.1_Frame_Shift_Ins_p.S499fs|RSF1_ENST00000360355.2_Frame_Shift_Ins_p.S720fs			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	751					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TCTAGAACTTTGGGGGGAGAAT	0.411													10	699	---	---	---	---					
SRSF8	10929	broad.mit.edu	37	11	94801196	94801197	+	RNA	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:94801196_94801197insC	ENST00000529911.1	+	0	836_837					NM_032102.3	NP_115285.1	Q9BRL6	SRSF8_HUMAN	serine/arginine-rich splicing factor 8						mRNA processing|RNA splicing	nucleus	nucleotide binding|RNA binding										GATCCAAGAGGCCCCCCAAGTC	0.535													7	97	---	---	---	---					
CLDN25	644672	broad.mit.edu	37	11	113650550	113650551	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													8	217	---	---	---	---					
CCDC153	283152	broad.mit.edu	37	11	119061042	119061043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:119061042_119061043insG	ENST00000503566.2	-	6	598_599	c.599_600insC	c.(598-600)cggfs	p.R200fs	CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.R200fs			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	200										lung(3)|stomach(1)	4						TCAAAGATCCAGGGGGGGTGAG	0.569													15	284	---	---	---	---					
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													8	682	---	---	---	---					
ADAMTS8	11095	broad.mit.edu	37	11	130275723	130275724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:130275723_130275724insG	ENST00000257359.6	-	9	3105_3106	c.2399_2400insC	c.(2398-2400)caafs	p.Q800fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	800	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ATTTGACTTTTGGGGGGAAGAC	0.579													9	640	---	---	---	---					
NCAPD3	23310	broad.mit.edu	37	11	134048585	134048586	+	Frame_Shift_Ins	INS	-	-	G	rs138442478		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:134048585_134048586insG	ENST00000534548.2	-	22	2789_2790	c.2725_2726insC	c.(2725-2727)ggtfs	p.G909fs		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	909					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.Q909fs*12(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCTCTGACCTGGGGGGGTGGC	0.525													10	150	---	---	---	---					
VWF	7450	broad.mit.edu	37	12	6091108	6091109	+	Frame_Shift_Ins	INS	-	-	G	rs61750632		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													10	237	---	---	---	---					
MRPL51	51258	broad.mit.edu	37	12	6602094	6602095	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:6602094_6602095insG	ENST00000229238.3	-	2	584_585	c.123_124insC	c.(121-126)ccaagtfs	p.S42fs	MRPL51_ENST00000543164.1_5'UTR|MRPL51_ENST00000543703.1_Intron	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	42					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			kidney(2)|large_intestine(1)|lung(3)	6						TCAACCACTTTGGGGGGCGGGA	0.510													13	188	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-492)cggfs	p.R164fs	CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs|CD4_ENST00000538827.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAGA	0.564													9	521	---	---	---	---					
C1S	716	broad.mit.edu	37	12	7177938	7177939	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:7177938_7177939insC	ENST00000406697.1	+	15	2678_2679	c.2050_2051insC	c.(2050-2052)cccfs	p.P684fs	C1S_ENST00000402681.3_Frame_Shift_Ins_p.P517fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.P684fs|C1S_ENST00000328916.3_Frame_Shift_Ins_p.P684fs			P09871	C1S_HUMAN	complement component 1, s subcomponent	684					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGAAAATAGCACCCCCCGTGAG	0.490													8	351	---	---	---	---					
PRB1	5542	broad.mit.edu	37	12	11506884	11506885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													7	592	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:13142224_13142225insC	ENST00000536942.1	-	2	353_354	c.203_204insG	c.(202-204)gacfs	p.D68fs	HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs			Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554													15	647	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:14019043_14019044insG	ENST00000279593.3	-	2	308_309	c.99_100insC	c.(97-102)ccgcatfs	p.H34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCCAATGCTGGGGGGGCTCT	0.589													9	118	---	---	---	---					
AMHR2	269	broad.mit.edu	37	12	53819644	53819645	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:53819644_53819645insG	ENST00000257863.4	+	6	873_874	c.793_794insG	c.(793-795)gggfs	p.G265fs	AMHR2_ENST00000550311.1_Frame_Shift_Ins_p.G265fs|AMHR2_ENST00000379791.3_Frame_Shift_Ins_p.G265fs	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	265	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	p.R265W(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CACTGCCAGCCGGGGGGGTCCT	0.579													7	78	---	---	---	---					
PCBP2	5094	broad.mit.edu	37	12	53856277	53856278	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:53856277_53856278insC	ENST00000603815.1	+	8	867_868	c.517_518insC	c.(517-519)cccfs	p.P173fs	PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000359282.5_Splice_Site_p.P169_splice|PCBP2_ENST00000546463.1_Splice_Site_p.P169_splice|PCBP2_ENST00000455667.3_Splice_Site_p.P169_splice|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000439930.3_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000437231.1_Splice_Site_p.P169_splice|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.P173fs|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000541275.1_Splice_Site_p.P169_splice|PCBP2_ENST00000552296.2_Splice_Site_p.P169_splice|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000548933.1_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													8	190	---	---	---	---					
PDE1B	5153	broad.mit.edu	37	12	54971059	54971060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:54971059_54971060insC	ENST00000243052.3	+	15	1994_1995	c.1558_1559insC	c.(1558-1560)cccfs	p.P520fs	PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.P479fs|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.P500fs|PPP1R1A_ENST00000547431.1_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	520					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						TGAAGAAGAGGCCCCCCCATCC	0.559													25	498	---	---	---	---					
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													12	1107	---	---	---	---					
IKZF4	64375	broad.mit.edu	37	12	56429092	56429093	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:56429092_56429093insG	ENST00000262032.5	+	12	2102_2103	c.1735_1736insG	c.(1735-1737)gggfs	p.G579fs	IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.G534fs|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.G579fs|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.G477fs			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	579					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCACATTGTCCGGGGGGAGCAT	0.554													10	674	---	---	---	---					
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:56742816_56742817insG	ENST00000314128.4	-	17	1490_1491	c.1467_1468insC	c.(1465-1470)ccaggcfs	p.G490fs	STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	490					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594													14	231	---	---	---	---					
BAZ2A	11176	broad.mit.edu	37	12	57009177	57009178	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:57009177_57009178insC	ENST00000179765.5	-	3	549_550	c.350_351insG	c.(349-351)gcafs	p.A117fs	BAZ2A_ENST00000379441.3_Frame_Shift_Ins_p.A119fs|BAZ2A_ENST00000551812.1_Frame_Shift_Ins_p.A119fs|BAZ2A_ENST00000549884.1_Frame_Shift_Ins_p.A117fs			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	119					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GTGGGTATTGTCCCCCCGAGAA	0.584													7	292	---	---	---	---					
LRP1	4035	broad.mit.edu	37	12	57572241	57572242	+	Frame_Shift_Ins	INS	-	-	G	rs139915490		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:57572241_57572242insG	ENST00000243077.3	+	27	4927_4928	c.4461_4462insG	c.(4459-4464)taggggfs	p.*G1487fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1487					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACGCTGTACGGGGGGGAGGT	0.589													8	134	---	---	---	---					
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													38	626	---	---	---	---					
DCTN2	10540	broad.mit.edu	37	12	57927805	57927806	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:57927805_57927806insG	ENST00000548249.1	-	7	866_867	c.599_600insC	c.(598-600)cgafs	p.R200fs	DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.R177fs|DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.R205fs	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	200					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						GGCTGCTATCTGGGGGGGTCCC	0.500													24	695	---	---	---	---					
KIF5A	3798	broad.mit.edu	37	12	57972047	57972048	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:57972047_57972048insG	ENST00000455537.2	+	23	2734_2735	c.2460_2461insG	c.(2458-2463)agggggfs	p.RG820fs	KIF5A_ENST00000286452.5_Frame_Shift_Ins_p.RG731fs	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	820					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CCGAAGACAGTGGGGGGATTCA	0.505													8	1322	---	---	---	---					
PIP4K2C	79837	broad.mit.edu	37	12	57995030	57995031	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:57995030_57995031insC	ENST00000354947.5	+	9	1100_1101	c.1084_1085insC	c.(1084-1086)cccfs	p.P362fs	PIP4K2C_ENST00000540759.2_Frame_Shift_Ins_p.P362fs|PIP4K2C_ENST00000550465.1_Frame_Shift_Ins_p.P344fs|PIP4K2C_ENST00000422156.3_Frame_Shift_Ins_p.P314fs			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	362	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					TCTCCCAGGAGCCCCCCAGAAG	0.475													10	360	---	---	---	---					
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:69233089_69233090insC	ENST00000462284.1	+	11	1256_1257	c.954_955insC	c.(952-957)aaccccfs	p.NP318fs	MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	312	Necessary for interaction with USP2.|Region II.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""								12	416	---	---	---	---					
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1194)cccfs	p.P398fs	NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_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)			10	252	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)cgtfs	p.R1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371													38	601	---	---	---	---					
C12orf42	374470	broad.mit.edu	37	12	103695959	103695960	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:103695959_103695960insG	ENST00000548048.1	-	9	1304_1305	c.808_809insC	c.(808-810)cccfs	p.P270fs	C12orf42_ENST00000548883.1_Frame_Shift_Ins_p.P337fs|C12orf42_ENST00000378113.2_Frame_Shift_Ins_p.P337fs|C12orf42_ENST00000315192.8_Intron			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	337										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CCGGGTTGGGCGGGGGGGTGCT	0.584													20	414	---	---	---	---					
TCHP	84260	broad.mit.edu	37	12	110344434	110344435	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:110344434_110344435insA	ENST00000312777.5	+	5	728_729	c.514_515insA	c.(514-516)aaafs	p.K172fs	TCHP_ENST00000405876.4_Frame_Shift_Ins_p.K172fs	NM_032300.4	NP_115676.1	Q9BT92	TCHP_HUMAN	trichoplein, keratin filament binding	172	Glu-rich.|Interaction with keratin proteins.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						GCAGAAAGAAGAAAAAAAACAG	0.480													8	374	---	---	---	---					
TBX5	6910	broad.mit.edu	37	12	114793735	114793736	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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	184	---	---	---	---					
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													10	274	---	---	---	---					
POLE	5426	broad.mit.edu	37	12	133245023	133245024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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)					10	209	---	---	---	---					
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggagafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.470													8	164	---	---	---	---					
OR4N2	390429	broad.mit.edu	37	14	20295776	20295777	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:20295776_20295777insC	ENST00000315947.1	+	1	169_170	c.169_170insC	c.(169-171)cccfs	p.P57fs	OR4N2_ENST00000568211.1_Frame_Shift_Ins_p.P57fs	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGGCTCACAGCCCCCCTCTAT	0.475													12	937	---	---	---	---					
OR4N5	390437	broad.mit.edu	37	14	20612063	20612064	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:20612063_20612064insC	ENST00000333629.1	+	1	169_170	c.169_170insC	c.(169-171)cccfs	p.P57fs		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGGGCTCACAGCCCCCCTCTAT	0.460													20	1919	---	---	---	---					
TMEM55B	90809	broad.mit.edu	37	14	20928945	20928946	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:20928945_20928946insG	ENST00000250489.4	-	2	487_488	c.201_202insC	c.(199-204)ccattcfs	p.F68fs	TMEM55B_ENST00000398020.4_Frame_Shift_Ins_p.F75fs			Q86T03	TM55B_HUMAN	transmembrane protein 55B	68	Pro-rich.					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		AAGGGTGAATAGGGGGGTGGGT	0.574													8	288	---	---	---	---					
RNASE3	6037	broad.mit.edu	37	14	21359982	21359983	+	Frame_Shift_Ins	INS	-	-	C	rs142084658	by1000genomes	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:21359982_21359983insC	ENST00000304639.3	+	2	195_196	c.137_138insC	c.(136-138)accfs	p.T46fs		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	46					defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	ATCAGTCTGAACCCCCCTCGAT	0.480													9	606	---	---	---	---					
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													11	585	---	---	---	---					
REC8	9985	broad.mit.edu	37	14	24642563	24642564	+	Frame_Shift_Ins	INS	-	-	T	rs148175635	by1000genomes	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:24642563_24642564insT	ENST00000311457.3	+	6	1004_1005	c.405_406insT	c.(403-408)ccttttfs	p.PF135fs	REC8_ENST00000559919.1_Frame_Shift_Ins_p.PF135fs			O95072	REC8_HUMAN	REC8 meiotic recombination protein	135					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CTCCAGATCCCTTTTTTGGGAT	0.530													8	470	---	---	---	---					
AKAP6	9472	broad.mit.edu	37	14	32902724	32902725	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:32902724_32902725insC	ENST00000280979.4	+	2	195_196	c.25_26insC	c.(25-27)cccfs	p.P9fs	AKAP6_ENST00000557354.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000557272.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000554449.1_3'UTR	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	9					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CGTGACACTTTCCCCCCTGAGG	0.505													11	312	---	---	---	---					
C14orf28	122525	broad.mit.edu	37	14	45369723	45369724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:45369723_45369724insG	ENST00000325192.3	+	2	360_361	c.85_86insG	c.(85-87)gggfs	p.G29fs	C14orf28_ENST00000557112.1_Frame_Shift_Ins_p.G29fs|RP11-857B24.5_ENST00000555157.1_RNA	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	29										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						TGTTCTTCCTTGGGGGGGTGTT	0.376													7	88	---	---	---	---					
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													19	513	---	---	---	---					
GALNT16	57452	broad.mit.edu	37	14	69800299	69800300	+	Frame_Shift_Ins	INS	-	-	G	rs144140025		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:69800299_69800300insG	ENST00000337827.4	+	9	1276_1277	c.949_950insG	c.(949-951)gggfs	p.G317fs	GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.G317fs|GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.G317fs	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		GATGGACATCTGGGGGGGAGAG	0.470													14	226	---	---	---	---					
IGHV4-39	28394	broad.mit.edu	37	14	106877817	106877819	+	RNA	DEL	ACT	ACT	-	rs113800876		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:106877817_106877819delACT	ENST00000390619.2	-	0	224_226																											CCCAGTAGTAACTACTACTGCTG	0.596													19	63	---	---	---	---					
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)gggfs	p.G150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.500													21	890	---	---	---	---					
THBS1	7057	broad.mit.edu	37	15	39881488	39881489	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr15:39881488_39881489insC	ENST00000260356.5	+	12	2024_2025	c.1859_1860insC	c.(1858-1860)tccfs	p.S620fs		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	620	EGF-like 2; calcium-binding (Potential).				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TGCCTGCCCTGCCCCCCACGCT	0.569													8	594	---	---	---	---					
SORD	6652	broad.mit.edu	37	15	45353365	45353366	+	Frame_Shift_Ins	INS	-	-	C	rs11542063	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr15:45353365_45353366insC	ENST00000267814.9	+	4	546_547	c.366_367insC	c.(364-369)acccccfs	p.TP122fs	SORD_ENST00000558580.1_Frame_Shift_Ins_p.TP101fs	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	122					fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	NADH(DB00157)	TCTGTGCCACGCCCCCCGATGA	0.530													14	303	---	---	---	---					
UNC13C	440279	broad.mit.edu	37	15	54630575	54630576	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr15:54630575_54630576insC	ENST00000545554.1	+	16	4601_4602	c.4601_4602insC	c.(4600-4602)accfs	p.T1534fs	UNC13C_ENST00000260323.11_Frame_Shift_Ins_p.T1534fs|UNC13C_ENST00000537900.1_Frame_Shift_Ins_p.T1532fs			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1534					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAGCTGCAAAGCCCCCCAAAAG	0.401													11	419	---	---	---	---					
PRTG	283659	broad.mit.edu	37	15	55912218	55912219	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr15:55912218_55912219insG	ENST00000389286.4	-	20	3491_3492	c.3444_3445insC	c.(3442-3447)ccacctfs	p.P1149fs		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	1149					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AATCAGAGGTTGGGGGGTGTGG	0.490													12	462	---	---	---	---					
RFX7	64864	broad.mit.edu	37	15	56386880	56386881	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr15:56386880_56386881insG	ENST00000423270.1	-	9	3044_3045	c.3045_3046insC	c.(3043-3048)ccgcccfs	p.P1016fs	RFX7_ENST00000317318.6_Frame_Shift_Ins_p.P1016fs|RFX7_ENST00000559447.2_Frame_Shift_Ins_p.P919fs|RFX7_ENST00000422057.1_Frame_Shift_Ins_p.P919fs	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	919					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						TCAACAGGGCTGGGGGGGACAC	0.500													8	153	---	---	---	---					
ZNF609	23060	broad.mit.edu	37	15	64967993	64967994	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr15:64967993_64967994insC	ENST00000326648.3	+	4	3068_3069	c.2940_2941insC	c.(2938-2943)gtccccfs	p.VP980fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	980						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						ATGCCTATGTACCCCCCTATGG	0.550													10	799	---	---	---	---					
FURIN	5045	broad.mit.edu	37	15	91424956	91424957	+	Frame_Shift_Ins	INS	-	-	G	rs35641241	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr15:91424956_91424957insG	ENST00000268171.3	+	16	2512_2513	c.2233_2234insG	c.(2233-2235)gggfs	p.G745fs		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	745					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	p.R745L(1)		breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CTTTAGTTTTCGGGGGGTGAAG	0.619													8	247	---	---	---	---					
MSLNL	401827	broad.mit.edu	37	16	830785	830786	+	In_Frame_Ins	INS	-	-	CAG			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:830785_830786insCAG	ENST00000293892.3	-	3	214_215	c.215_216insCTG	c.(214-216)cca>cCTGca	p.72_73insA	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CGGGTAGGTGACGGTGTGCACG	0.589													9	238	---	---	---	---					
SRRM2	23524	broad.mit.edu	37	16	2815060	2815061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:2815060_2815061insC	ENST00000301740.8	+	11	5080_5081	c.4531_4532insC	c.(4531-4533)cccfs	p.P1511fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1511	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAAGTGTCTTACCCCCCAGAGA	0.525													7	672	---	---	---	---					
EMP2	2013	broad.mit.edu	37	16	10637490	10637491	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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	483	---	---	---	---					
CIITA	4261	broad.mit.edu	37	16	10995899	10995900	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:10995899_10995900insC	ENST00000324288.8	+	7	619_620	c.486_487insC	c.(484-489)gaccccfs	p.DP162fs	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_3'UTR	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, """								13	956	---	---	---	---					
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													7	567	---	---	---	---					
ACSM2B	348158	broad.mit.edu	37	16	20556547	20556548	+	Frame_Shift_Ins	INS	-	-	G	rs146499503		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:20556547_20556548insG	ENST00000329697.6	-	10	1380_1381	c.1212_1213insC	c.(1210-1215)ccgcacfs	p.H405fs	ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	405					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTTCTGTGCCGGGGGGCAGGA	0.515													8	312	---	---	---	---					
DNAH3	55567	broad.mit.edu	37	16	20976720	20976721	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:20976720_20976721insC	ENST00000261383.3	-	53	8484_8485	c.8485_8486insG	c.(8485-8487)atcfs	p.I2829fs	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2829	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)		CTTTTTGGATACCCCCCAGTAA	0.416													7	263	---	---	---	---					
TBX6	6911	broad.mit.edu	37	16	30100077	30100078	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:30100077_30100078insC	ENST00000553607.1	-	4	1397_1398	c.704_705insG	c.(703-705)gatfs	p.D235fs	TBX6_ENST00000395224.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000279386.2_Frame_Shift_Ins_p.D235fs			O95947	TBX6_HUMAN	T-box 6	235					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						AGGAGGCCATGCCCCCCCAGTG	0.629													9	128	---	---	---	---					
ITGAD	3681	broad.mit.edu	37	16	31422532	31422533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:31422532_31422533insG	ENST00000389202.2	+	13	1541_1542	c.1492_1493insG	c.(1492-1494)gggfs	p.G498fs		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	498					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCCCTTGCCTAGGGGGGTGAGT	0.629													7	928	---	---	---	---					
MT4	84560	broad.mit.edu	37	16	56602768	56602769	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:56602768_56602769insC	ENST00000219162.3	+	3	193_194	c.113_114insC	c.(112-114)tccfs	p.S38fs		NM_032935.2	NP_116324.1	P47944	MT4_HUMAN	metallothionein 4	38						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGCT	0.599													19	713	---	---	---	---					
KCTD19	146212	broad.mit.edu	37	16	67325657	67325658	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													7	71	---	---	---	---					
TERF2IP	54386	broad.mit.edu	37	16	75690386	75690388	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr16:75690386_75690388delTCC	ENST00000300086.4	+	3	1174_1176	c.1077_1079delTCC	c.(1075-1080)tac>ta	p.YP359del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	359					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						CTGATGGATATCCCATTTGGTCC	0.453													17	428	---	---	---	---					
PAFAH1B1	5048	broad.mit.edu	37	17	2583499	2583500	+	Frame_Shift_Ins	INS	-	-	G	rs113994201		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													10	545	---	---	---	---					
ALOX12	239	broad.mit.edu	37	17	6903739	6903740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:6903739_6903740insC	ENST00000251535.6	+	7	945_946	c.892_893insC	c.(892-894)cccfs	p.P298fs	AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	298	Lipoxygenase.		A -> T.		anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATACCTGGCTGCCCCCCTCGTT	0.554													15	1135	---	---	---	---					
CHD3	1107	broad.mit.edu	37	17	7798764	7798765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:7798764_7798765insC	ENST00000380358.4	+	10	1789_1790	c.1788_1789insC	c.(1786-1791)ccccccfs	p.PP596fs	CHD3_ENST00000358181.4_Frame_Shift_Ins_p.PP537fs|CHD3_ENST00000330494.7_Frame_Shift_Ins_p.PP537fs	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	537					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAGATGTCCCACCCCCCCGTCC	0.574													19	240	---	---	---	---					
PHF12	57649	broad.mit.edu	37	17	27244345	27244346	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:27244345_27244346insG	ENST00000577226.1	-	7	1437_1438	c.1091_1092insC	c.(1090-1092)caafs	p.Q364fs	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000332830.4_Frame_Shift_Ins_p.Q364fs|PHF12_ENST00000268756.3_Frame_Shift_Ins_p.Q364fs			Q96QT6	PHF12_HUMAN	PHD finger protein 12	364	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CACGCCGGTTAGGGGGGTGCTT	0.530													7	216	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:27959374_27959375insG	ENST00000269033.3	-	15	2907_2908	c.2756_2757insC	c.(2755-2757)cgafs	p.R919fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R946fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGAATGTTCTGGGGGGGCTTC	0.480													33	369	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27963294	27963295	+	Frame_Shift_Ins	INS	-	-	G	rs35554312		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:27963294_27963295insG	ENST00000269033.3	-	14	2023_2024	c.1872_1873insC	c.(1870-1875)cctgtcfs	p.V625fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.V652fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	625					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAGGGGACATGGGGGGGTCTT	0.470													11	161	---	---	---	---					
ACACA	31	broad.mit.edu	37	17	35600370	35600371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:35600370_35600371insG	ENST00000353139.5	-	22	3328_3329	c.2847_2848insC	c.(2845-2850)ccatgtfs	p.C950fs	ACACA_ENST00000360679.3_Frame_Shift_Ins_p.C855fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.C835fs|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.C913fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	913					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTCCACATTGGGGGGAATGC	0.470													7	506	---	---	---	---					
NAGLU	4669	broad.mit.edu	37	17	40690467	40690468	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:40690467_40690468insC	ENST00000225927.2	+	3	743_744	c.642_643insC	c.(640-645)ctccccfs	p.LP214fs	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	214						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	ATGGCCCCCTGCCCCCCTCCTG	0.594													7	831	---	---	---	---					
GPATCH8	23131	broad.mit.edu	37	17	42476034	42476035	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:42476034_42476035insG	ENST00000434000.1	-	9	3458_3459	c.3176_3177insC	c.(3175-3177)ctcfs	p.L1059fs	GPATCH8_ENST00000591680.1_Frame_Shift_Ins_p.L1137fs			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1137						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGCCAAGAGATGGGGGGAGCTT	0.554													7	2093	---	---	---	---					
MRPL10	124995	broad.mit.edu	37	17	45905873	45905874	+	Frame_Shift_Ins	INS	-	-	G	rs147331240		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:45905873_45905874insG	ENST00000290208.7	-	2	697_698	c.245_246insC	c.(244-246)ccafs	p.P82fs	MRPL10_ENST00000414011.1_Frame_Shift_Ins_p.P82fs|MRPL10_ENST00000351111.2_Frame_Shift_Ins_p.P72fs			Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	72					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						TTACCTCCTGTGGGGGGCTGGG	0.525													7	253	---	---	---	---					
MTMR4	9110	broad.mit.edu	37	17	56590245	56590246	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:56590245_56590246insG	ENST00000323456.5	-	3	184_185	c.60_61insC	c.(58-63)ccaggafs	p.G21fs	MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.G21fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	21						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	p.K21fs*20(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTAGTTCCTTGGGGGGGAACA	0.569													10	352	---	---	---	---					
AXIN2	8313	broad.mit.edu	37	17	63532584	63532585	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:63532584_63532585insC	ENST00000307078.5	-	8	2307_2308	c.1994_1995insG	c.(1993-1995)gaafs	p.E665fs	AXIN2_ENST00000375702.5_Frame_Shift_Ins_p.E600fs	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	665					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GCCCGCTGTTGCCCCCCCACAG	0.658									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				7	107	---	---	---	---					
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:71223356_71223357insG	ENST00000405159.3	-	2	332_333	c.268_269insC	c.(268-270)gacfs	p.D90fs	FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTTTTGGTCTGGGGGGGAAGA	0.416													8	156	---	---	---	---					
ZBTB7C	201501	broad.mit.edu	37	18	45566518	45566519	+	Frame_Shift_Ins	INS	-	-	C	rs113275715		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr18:45566518_45566519insC	ENST00000588982.1	-	3	1461_1462	c.960_961insG	c.(958-963)ggctctfs	p.S321fs	ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.S321fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.S321fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.S321fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.S321fs			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	321	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GGTCCCAGAGGCCCCCCCGGCA	0.624													17	520	---	---	---	---					
ZBTB7C	201501	broad.mit.edu	37	18	45567075	45567076	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr18:45567075_45567076insC	ENST00000588982.1	-	3	904_905	c.403_404insG	c.(403-405)ggafs	p.G135fs	ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.G135fs			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	135	Asp-rich.|Glu-rich.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						gtcatcctcctcccccccgtcc	0.574													7	246	---	---	---	---					
ZNF407	55628	broad.mit.edu	37	18	72343478	72343479	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr18:72343478_72343479insC	ENST00000299687.5	+	1	503_504	c.503_504insC	c.(502-504)tccfs	p.S168fs	ZNF407_ENST00000582337.1_Frame_Shift_Ins_p.S168fs|ZNF407_ENST00000577538.1_Frame_Shift_Ins_p.S168fs|ZNF407_ENST00000309902.6_Frame_Shift_Ins_p.S168fs	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAATCTCCTTTCCCCCCGAAAG	0.396													7	175	---	---	---	---					
LRG1	116844	broad.mit.edu	37	19	4538452	4538453	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:4538452_4538453insG	ENST00000306390.6	-	2	1003_1004	c.543_544insC	c.(541-546)ccggctfs	p.A182fs	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	182						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAGCAGCCCGGGGGGCAGTT	0.619													10	367	---	---	---	---					
TUBB4A	10382	broad.mit.edu	37	19	6496087	6496088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:6496087_6496088insC	ENST00000264071.2	-	4	793_794	c.422_423insG	c.(421-423)gggfs	p.G141fs	TUBB4A_ENST00000598006.1_3'UTR|TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000540257.1_Frame_Shift_Ins_p.G141fs			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	225	---	---	---	---					
C3	718	broad.mit.edu	37	19	6697480	6697481	+	Frame_Shift_Ins	INS	-	-	G	rs137956083		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													11	127	---	---	---	---					
SH2D3A	10045	broad.mit.edu	37	19	6755179	6755180	+	Frame_Shift_Ins	INS	-	-	G	rs139813452	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													33	497	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9059376	9059377	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:9059376_9059377insG	ENST00000397910.4	-	3	28272_28273	c.28069_28070insC	c.(28069-28071)cacfs	p.H9357fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9359	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTCCTTGTGAGGGGGGTAGAA	0.510													7	403	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:9064309_9064310insG	ENST00000397910.4	-	3	23339_23340	c.23136_23137insC	c.(23134-23139)ccctccfs	p.S7713fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7715	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGGGGAGAGGGGGGGATAT	0.530													9	482	---	---	---	---					
ZNF878	729747	broad.mit.edu	37	19	12155708	12155709	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:12155708_12155709insT	ENST00000602107.1	-	5	647_648	c.648_649insA	c.(646-651)aacctafs	p.NL216fs	CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL169fs|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CATTCATAGGGTTTTTTTGCAG	0.411													7	468	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769061	31769062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													16	378	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													13	588	---	---	---	---					
CD22	933	broad.mit.edu	37	19	35832248	35832249	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:35832248_35832249insC	ENST00000085219.5	+	8	1576_1577	c.1510_1511insC	c.(1510-1512)cccfs	p.P504fs	CD22_ENST00000419549.2_Frame_Shift_Ins_p.P332fs|CD22_ENST00000341773.6_Frame_Shift_Ins_p.P327fs|CD22_ENST00000270311.6_Frame_Shift_Ins_p.P384fs|CD22_ENST00000594250.1_Frame_Shift_Ins_p.P327fs|CD22_ENST00000544992.2_Frame_Shift_Ins_p.P504fs|CD22_ENST00000536635.2_Frame_Shift_Ins_p.P416fs	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	504					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CCCTCCAGATGCCCCCCGAGAC	0.619													7	213	---	---	---	---					
RYR1	6261	broad.mit.edu	37	19	39008211	39008212	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:39008211_39008212insC	ENST00000355481.4	+	66	10029_10030	c.9898_9899insC	c.(9898-9900)cccfs	p.P3300fs	RYR1_ENST00000360985.3_Frame_Shift_Ins_p.P3300fs|RYR1_ENST00000359596.3_Frame_Shift_Ins_p.P3300fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3300					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCCCGCCGGCGCCCCCCCACCC	0.658													7	52	---	---	---	---					
FCGBP	8857	broad.mit.edu	37	19	40433821	40433822	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													7	144	---	---	---	---					
C19orf47	126526	broad.mit.edu	37	19	40834398	40834399	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:40834398_40834399insG	ENST00000582783.1	-	6	483_484	c.471_472insC	c.(469-474)ccggcgfs	p.A158fs	C19orf47_ENST00000392035.2_Frame_Shift_Ins_p.A91fs	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	158										endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			TCCGGGCGCCTGGGGGGTGTGC	0.614													10	695	---	---	---	---					
CCDC97	90324	broad.mit.edu	37	19	41825594	41825595	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:41825594_41825595insC	ENST00000269967.3	+	3	740_741	c.618_619insC	c.(616-621)caccccfs	p.HP206fs		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	206										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						CAACCCACCAGCCCCCCAAGCC	0.649													8	267	---	---	---	---					
CEACAM5	1048	broad.mit.edu	37	19	42224865	42224866	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:42224865_42224866insC	ENST00000221992.6	+	8	1909_1910	c.1795_1796insC	c.(1795-1797)cccfs	p.P599fs	CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.P598fs|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.P599fs	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	599	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCCATCATTTCCCCCCCAGAC	0.545													12	289	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													10	771	---	---	---	---					
CLASRP	11129	broad.mit.edu	37	19	45556128	45556129	+	Frame_Shift_Ins	INS	-	-	C	rs146240710		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:45556128_45556129insC	ENST00000544944.2	+	3	969_970	c.277_278insC	c.(277-279)cccfs	p.P93fs	CLASRP_ENST00000221455.3_Frame_Shift_Ins_p.P93fs|CLASRP_ENST00000391953.4_Intron			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	93					mRNA processing|RNA splicing	nucleus		p.L96fs*17(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCCCGACTACACCCCCCCTCTG	0.614													7	147	---	---	---	---					
SLC8A2	6543	broad.mit.edu	37	19	47935586	47935587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:47935586_47935587insG	ENST00000236877.6	-	9	2621_2622	c.2226_2227insC	c.(2224-2229)ccccgafs	p.R743fs	SLC8A2_ENST00000542837.1_Frame_Shift_Ins_p.R499fs|SLC8A2_ENST00000539381.1_Frame_Shift_Ins_p.R206fs	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	743					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CAGTACTCGGTGGGGGGCACAC	0.649													8	293	---	---	---	---					
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:48737669_48737670insC	ENST00000391898.3	-	3	382_383	c.340_341insG	c.(340-342)catfs	p.H114fs	ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	0					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436													11	195	---	---	---	---					
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													16	359	---	---	---	---					
GPR32	2854	broad.mit.edu	37	19	51274914	51274915	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr19:51274914_51274915insC	ENST00000270590.4	+	1	1194_1195	c.1057_1058insC	c.(1057-1059)cccfs	p.P353fs		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	353						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCGTGGCAACGCCCCCCGGGAA	0.525													8	316	---	---	---	---					
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													12	225	---	---	---	---					
ZNF175	7728	broad.mit.edu	37	19	52090436	52090437	+	Frame_Shift_Ins	INS	-	-	G	rs138396190		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													8	413	---	---	---	---					
CNOT3	4849	broad.mit.edu	37	19	54649666	54649667	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													8	113	---	---	---	---					
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													9	321	---	---	---	---					
NSFL1C	55968	broad.mit.edu	37	20	1426464	1426465	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:1426464_1426465insG	ENST00000216879.4	-	8	1663_1664	c.796_797insC	c.(796-798)ggtfs	p.G266fs	NSFL1C_ENST00000476071.1_Frame_Shift_Ins_p.G268fs|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000353088.2_Frame_Shift_Ins_p.G235fs|NSFL1C_ENST00000350991.4_Frame_Shift_Ins_p.G268fs|NSFL1C_ENST00000381658.4_Frame_Shift_Ins_p.G155fs	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	266						chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						ACTCAACACCTGGGGGGCAGTG	0.510													7	588	---	---	---	---					
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:23667825_23667826insC	ENST00000217423.3	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAAG	0.554													15	255	---	---	---	---					
CST1	1469	broad.mit.edu	37	20	23729753	23729754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													14	261	---	---	---	---					
TM9SF4	9777	broad.mit.edu	37	20	30737490	30737491	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:30737490_30737491insC	ENST00000217315.5	+	10	1297_1298	c.957_958insC	c.(955-960)agccccfs	p.SP319fs	TM9SF4_ENST00000398022.2_Frame_Shift_Ins_p.SP336fs			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	336						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACGTCTTCAGGCCCCCCCAGTA	0.604													7	111	---	---	---	---					
CNBD2	140894	broad.mit.edu	37	20	34618503	34618504	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:34618503_34618504insC	ENST00000373973.3	+	12	1837_1838	c.1664_1665insC	c.(1663-1665)cccfs	p.P555fs	CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Frame_Shift_Ins_p.P551fs					cyclic nucleotide binding domain containing 2																		CAGAAATACCTCCCCCCATTGA	0.455													19	908	---	---	---	---					
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)cccfs	p.P379fs	RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs			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	147	---	---	---	---					
SLC13A3	64849	broad.mit.edu	37	20	45194969	45194970	+	Frame_Shift_Ins	INS	-	-	G	rs149123701	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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_ENST00000435032.1_Frame_Shift_Ins_p.PP49fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.PP382fs|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													7	456	---	---	---	---					
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)ccaaagfs	p.PK775fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	775					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGGAGGCTTTTGGGGGGGCTGG	0.545													28	708	---	---	---	---					
KCNB1	3745	broad.mit.edu	37	20	47989890	47989891	+	Frame_Shift_Ins	INS	-	-	G	rs151175979	by1000genomes	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:47989890_47989891insG	ENST00000371741.4	-	2	2372_2373	c.2206_2207insC	c.(2206-2208)gtcfs	p.V736fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	736					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTCAGGAGACCGGGGGGGTGTC	0.559													11	198	---	---	---	---					
SALL4	57167	broad.mit.edu	37	20	50400982	50400983	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:50400982_50400983insC	ENST00000217086.4	-	4	3094_3095	c.2983_2984insG	c.(2983-2985)tccfs	p.S995fs	SALL4_ENST00000371539.3_Frame_Shift_Ins_p.S218fs|SALL4_ENST00000395997.3_Frame_Shift_Ins_p.S558fs	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	995					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGGGTAGGAACCCCCCCACTC	0.559													9	112	---	---	---	---					
ZFP64	55734	broad.mit.edu	37	20	50769075	50769076	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:50769075_50769076insG	ENST00000216923.4	-	6	2004_2005	c.1655_1656insC	c.(1654-1656)ccafs	p.P552fs	ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371518.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCGAGGACTGAGGGGGGGCGAT	0.673													13	91	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11059172	11059175	+	RNA	DEL	CTAT	CTAT	-	rs56885467		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr21:11059172_11059175delCTAT	ENST00000470054.1	-	0	324									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)		TGGGAAATGACTATCTAACATAAA	0.373													5	1	---	---	---	---					
KLHL22	84861	broad.mit.edu	37	22	20819244	20819245	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr22:20819244_20819245insG	ENST00000328879.4	-	4	1168_1169	c.1012_1013insC	c.(1012-1014)catfs	p.H338fs	KLHL22_ENST00000440659.2_Frame_Shift_Ins_p.H195fs	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	338					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GTTGGACATGCGGGGGGCCAGG	0.574													7	198	---	---	---	---					
THOC5	8563	broad.mit.edu	37	22	29925230	29925231	+	Splice_Site	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr22:29925230_29925231insG	ENST00000490103.1	-	9	970		c.e9-2		THOC5_ENST00000397872.1_Splice_Site|THOC5_ENST00000397871.1_Splice_Site|THOC5_ENST00000397873.2_Splice_Site|CTA-256D12.11_ENST00000411969.1_RNA	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5						intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACGTCTTATCTGGGGGGCAAGA	0.535													16	997	---	---	---	---					
TMPRSS6	164656	broad.mit.edu	37	22	37499435	37499436	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr22:37499435_37499436insG	ENST00000381792.2	-	2	162_163	c.22_23insC	c.(22-24)ggtfs	p.G8fs	TMPRSS6_ENST00000406725.1_Frame_Shift_Ins_p.G8fs|TMPRSS6_ENST00000406856.1_Frame_Shift_Ins_p.G8fs|TMPRSS6_ENST00000442782.2_Frame_Shift_Ins_p.G17fs|TMPRSS6_ENST00000346753.3_Frame_Shift_Ins_p.G17fs			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	17					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GCCAGCCACCTGGGGGGCCTCG	0.658													7	641	---	---	---	---					
DDX17	10521	broad.mit.edu	37	22	38895454	38895455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr22:38895454_38895455insC	ENST00000396821.3	-	3	587_588	c.488_489insG	c.(487-489)ggafs	p.G163fs	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	84	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCAC	0.381													9	185	---	---	---	---					
SREBF2	6721	broad.mit.edu	37	22	42271636	42271637	+	Frame_Shift_Ins	INS	-	-	C	rs79727196		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr22:42271636_42271637insC	ENST00000361204.4	+	7	1460_1461	c.1294_1295insC	c.(1294-1296)cccfs	p.P432fs		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	432	Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCTTCTGATGTCCCCCCCAGCC	0.520													7	242	---	---	---	---					
DHRSX	207063	broad.mit.edu	37	X	2343335	2343336	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													9	517	---	---	---	---					
MID1	4281	broad.mit.edu	37	X	10417613	10417614	+	Frame_Shift_Ins	INS	-	-	G	rs1802191		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:10417613_10417614insG	ENST00000317552.4	-	10	2198_2199	c.1798_1799insC	c.(1798-1800)cctfs	p.P600fs	MID1_ENST00000380787.1_Frame_Shift_Ins_p.P600fs|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000453318.2_Frame_Shift_Ins_p.P600fs|MID1_ENST00000380779.1_Frame_Shift_Ins_p.P600fs|MID1_ENST00000380780.1_Frame_Shift_Ins_p.P600fs|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380785.1_Frame_Shift_Ins_p.P600fs	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	600	B30.2/SPRY.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCGCCGGAGGTGGGGGGCAGGC	0.540													13	1152	---	---	---	---					
PRRG1	5638	broad.mit.edu	37	X	37312610	37312611	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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_ENST00000378628.4_Frame_Shift_Ins_p.PP131fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000449135.2_Frame_Shift_Ins_p.PP131fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	131	Poly-Pro.					extracellular region|integral to plasma membrane	calcium ion binding	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TTATCACCCCACCCCCCCCACC	0.485													8	154	---	---	---	---					
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	Frame_Shift_Ins	INS	-	-	G	rs41305745	by1000genomes	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													8	337	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:48207024_48207025insC	ENST00000298396.2	-	7	533_534	c.481_482insG	c.(481-483)acafs	p.T161fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						CCAGGCATGTTCCCCCCTTTTG	0.480													14	675	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	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													10	360	---	---	---	---					
TFE3	7030	broad.mit.edu	37	X	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:48887951_48887952insC	ENST00000315869.7	-	10	1704_1705	c.1445_1446insG	c.(1444-1446)gccfs	p.A482fs	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								24	290	---	---	---	---					
NOX1	27035	broad.mit.edu	37	X	100117691	100117692	+	Frame_Shift_Ins	INS	-	-	C	rs145552525	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:100117691_100117692insC	ENST00000372966.3	-	5	660_661	c.455_456insG	c.(454-456)gtcfs	p.V152fs	NOX1_ENST00000217885.5_Frame_Shift_Ins_p.V152fs|NOX1_ENST00000372964.1_Frame_Shift_Ins_p.V152fs|NOX1_ENST00000372960.4_Frame_Shift_Ins_p.V115fs	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	152	Ferric oxidoreductase.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TTAGCCAAGAACCCCCCTTTTT	0.500													7	593	---	---	---	---					
ZNF449	203523	broad.mit.edu	37	X	134494267	134494268	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:134494267_134494268insC	ENST00000339249.4	+	5	963_964	c.823_824insC	c.(823-825)cccfs	p.P275fs		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	275					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCAATGGGAAACCCCCCCAGAG	0.436													7	141	---	---	---	---					
MAP7D3	79649	broad.mit.edu	37	X	135314193	135314194	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:135314193_135314194insG	ENST00000316077.9	-	8	1142_1143	c.922_923insC	c.(922-924)ggtfs	p.G308fs	MAP7D3_ENST00000370661.1_Frame_Shift_Ins_p.G273fs|MAP7D3_ENST00000370663.5_Frame_Shift_Ins_p.G290fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGCA	0.535													11	226	---	---	---	---					
SCN1A	6323	broad.mit.edu	37	2	166903319	166903321	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:166903319_166903321delCTG	ENST00000423058.2	-	9	1353_1355	c.1336_1338delCAG	c.(1336-1338)del	p.Q446del	SCN1A_ENST00000409050.1_In_Frame_Del_p.Q446del|SCN1A_ENST00000375405.3_In_Frame_Del_p.Q446del|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_In_Frame_Del_p.Q446del|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	446						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GTTCAATCATCTGCTGAAATTCG	0.458													45	42	---	---	---	---					
FIP1L1	81608	broad.mit.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:54319248_54319249delAG	ENST00000337488.6	+	16	1641_1642	c.1447_1448delAG	c.(1447-1449)afs	p.R483fs	FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000507166.1_Intron	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	483	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing	nucleus	RNA binding	p.R487fs*3(2)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			agaACGCACCAGAGAGAGAGAG	0.470			T	PDGFRA	idiopathic hypereosinophilic syndrome								8	167	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659		TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr7:131241030_131241035delGGCGAC	ENST00000541194.1	-	1	341_346	c.84_89delGTCGCC	c.(82-90)ccc>cc	p.PSP28del	PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748													4	4	---	---	---	---					
UBC	7316	broad.mit.edu	37	12	125398295	125398296	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:125398295_125398296delAG	ENST00000536769.1	-	1	1598_1599	c.22_23delCT	c.(22-24)gfs	p.L8fs	UBC_ENST00000536661.1_5'UTR|UBC_ENST00000339647.5_Frame_Shift_Del_p.L8fs|UBC_ENST00000538617.1_Frame_Shift_Del_p.L8fs|UBC_ENST00000546120.1_Frame_Shift_Del_p.L8fs			P0CG48	UBC_HUMAN	ubiquitin C	8	Ubiquitin-like 1.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTTACCAGTCAGAGTCTTCACG	0.450													7	352	---	---	---	---					
MESP2	145873	broad.mit.edu	37	15	90320135	90320146	+	In_Frame_Del	DEL	GGGCAGGGGCAG	GGGCAGGGGCAG	-	rs56192595	by1000genomes	TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr15:90320135_90320146delGGGCAGGGGCAG	ENST00000341735.3	+	1	547_558	c.547_558delGGGCAGGGGCAG	c.(547-558)del	p.GQGQ199del	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	199	13 X 2 AA tandem repeats of G-Q.				Notch signaling pathway	nucleus	DNA binding	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			gcaggggcaagggcaggggcaggggcaggggc	0.783													2	4	---	---	---	---					
CCDC144B	284047	broad.mit.edu	37	17	18498497	18498498	+	RNA	INS	-	-	A	rs72195768		TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:18498497_18498498insA	ENST00000442583.1	-	0	749																				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTGCAGGCCTGAAAAAAAAAAA	0.243													2	4	---	---	---	---					
NUFIP2	57532	broad.mit.edu	37	17	27620806	27620808	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:27620806_27620808delTTC	ENST00000225388.4	-	1	328_330	c.270_272delGAA	c.(268-273)aaa>aa	p.KK90del	NUFIP2_ENST00000579665.1_In_Frame_Del_p.KK90del	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	90						nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			caGACCTGTTTTCTTCTTCGGCG	0.645													9	260	---	---	---	---					
SERPINB3	6317	broad.mit.edu	37	18	61324536	61324537	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr18:61324536_61324537insT	ENST00000283752.5	-	6	722_723	c.579_580insA	c.(577-582)gaatacfs	p.Y194fs	SERPINB3_ENST00000332821.8_Frame_Shift_Ins_p.Y194fs|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	194					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TCTTTAGTATCTTCTTTATTAA	0.292													8	167	---	---	---	---					
ADNP2	22850	broad.mit.edu	37	18	77895551	77895552	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr18:77895551_77895552insT	ENST00000262198.4	+	4	2710_2711	c.2255_2256insT	c.(2254-2256)taafs	p.*752fs		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	752					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TGTCTGTCTTGTAAGTGCTTGG	0.475													14	344	---	---	---	---					
SSU72	29101	broad.mit.edu	37	1	1500119	1500120	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:1500119_1500120insG	ENST00000359060.4	-	2	283_284	c.257_258insC	c.(256-258)ctgfs	p.L86fs	SSU72_ENST00000291386.3_Intron			Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	0					mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GAGGACCACACGGGGGGTTTTT	0.505													18	1797	---	---	---	---					
ERRFI1	54206	broad.mit.edu	37	1	8073803	8073804	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:8073803_8073804insG	ENST00000377482.5	-	4	1078_1079	c.855_856insC	c.(853-858)ccgagtfs	p.S286fs	ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000467067.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	286					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		ATGGGAACTCTGGGGGGAACCT	0.475													8	323	---	---	---	---					
ERRFI1	54206	broad.mit.edu	37	1	8074377	8074378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:8074377_8074378insG	ENST00000377482.5	-	4	504_505	c.281_282insC	c.(280-282)cctfs	p.P94fs	ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_Frame_Shift_Ins_p.F69fs|ERRFI1_ENST00000467067.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	94					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		GAATAAGAAGAGGGGGCAAGCT	0.460													7	2194	---	---	---	---					
DAB1	1600	broad.mit.edu	37	1	57491653	57491654	+	Splice_Site	INS	-	-	G	rs138352976		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:57491653_57491654insG	ENST00000371236.2	-	10	1049_1050		c.e10+1		DAB1_ENST00000414851.2_Splice_Site|DAB1_ENST00000420954.2_Splice_Site|DAB1_ENST00000371231.1_Splice_Site|DAB1_ENST00000439789.2_Splice_Site|DAB1_ENST00000371234.4_Splice_Site|DAB1_ENST00000485760.1_Splice_Site			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)						cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGCATACTTACGGGGGGAGAGG	0.465													9	511	---	---	---	---					
LOC149351	149351	broad.mit.edu	37	1	91252142	91252143	+	RNA	DEL	AG	AG	-			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:91252142_91252143delAG	ENST00000435649.2	-	0	390																											ttcaagaggcagagagagagag	0.446													2	4	---	---	---	---					
KIF21B	23046	broad.mit.edu	37	1	200956270	200956271	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:200956270_200956271insG	ENST00000332129.2	-	25	3783_3784	c.3467_3468insC	c.(3466-3468)cctfs	p.P1156fs	KIF21B_ENST00000422435.2_Frame_Shift_Ins_p.P1156fs|KIF21B_ENST00000360529.5_Frame_Shift_Ins_p.P1156fs|KIF21B_ENST00000461742.2_Frame_Shift_Ins_p.P1156fs	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1156					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AGATATCCAGTGGGGGGCCCAG	0.559													40	1919	---	---	---	---					
PAPOLG	64895	broad.mit.edu	37	2	61021134	61021135	+	Frame_Shift_Ins	INS	-	-	C	rs140373990		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:61021134_61021135insC	ENST00000238714.3	+	19	2046_2047	c.1797_1798insC	c.(1795-1800)tcccccfs	p.SP599fs		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	599					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AAACTGTATCACCCCCCACTGT	0.401													8	210	---	---	---	---					
SCN1A	6323	broad.mit.edu	37	2	166903319	166903321	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:166903319_166903321delCTG	ENST00000423058.2	-	9	1353_1355	c.1336_1338delCAG	c.(1336-1338)del	p.Q446del	SCN1A_ENST00000409050.1_In_Frame_Del_p.Q446del|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_In_Frame_Del_p.Q446del|SCN1A_ENST00000303395.4_In_Frame_Del_p.Q446del|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	446						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GTTCAATCATCTGCTGAAATTCG	0.458													45	69	---	---	---	---					
ZFYVE20	64145	broad.mit.edu	37	3	15115298	15115299	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:15115298_15115299insC	ENST00000253699.3	-	14	2958_2959	c.2345_2346insG	c.(2344-2346)gacfs	p.D782fs	ZFYVE20_ENST00000476527.2_Frame_Shift_Ins_p.D782fs	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	782	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GTCAGTCAGTGCCCCCCTTCTG	0.624													8	385	---	---	---	---					
TRANK1	9881	broad.mit.edu	37	3	36876345	36876345	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:36876345delG	ENST00000429976.2	-	20	5686	c.5439delC	c.(5437-5439)ttfs	p.F1813fs	TRANK1_ENST00000428977.2_Frame_Shift_Del_p.F1263fs|TRANK1_ENST00000301807.6_Frame_Shift_Del_p.F1263fs			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1813					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CAAAGCATCTGAAAGCGTCTT	0.388													25	95	---	---	---	---					
TF	7018	broad.mit.edu	37	3	133476713	133476714	+	Frame_Shift_Ins	INS	-	-	C	rs148358704		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr3:133476713_133476714insC	ENST00000402696.3	+	8	1456_1457	c.971_972insC	c.(970-972)gccfs	p.A324fs	TF_ENST00000264998.3_Frame_Shift_Ins_p.A197fs	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	324	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TTTTTAAAAGTCCCCCCCAGGA	0.485													7	174	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	31995791	31995797	+	Frame_Shift_Del	DEL	TCACTCA	TCACTCA	-			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr5:31995791_31995797delTCACTCA	ENST00000438447.1	+	4	1476_1482	c.1088_1094delTCACTCA	c.(1087-1095)gafs	p.VTQ363fs	PDZD2_ENST00000282493.3_Frame_Shift_Del_p.VTQ363fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	363	PDZ 2.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCTATCGTTGTCACTCAAGTGAAGGAA	0.570													134	187	---	---	---	---					
SLC6A7	6534	broad.mit.edu	37	5	149580754	149580755	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr5:149580754_149580755insC	ENST00000230671.2	+	6	1197_1198	c.826_827insC	c.(826-828)cccfs	p.P276fs	SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.P276fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	276						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GTTCTATCTCACCCCCCAGTTC	0.634													9	213	---	---	---	---					
CPA1	1357	broad.mit.edu	37	7	130023239	130023240	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr7:130023239_130023240insG	ENST00000011292.3	+	5	641_642	c.491_492insG	c.(490-492)aggfs	p.R164fs	CPA1_ENST00000484324.1_Frame_Shift_Ins_p.R76fs	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	164					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CAGTTCAGCACGGGGGGCAGTA	0.614													8	215	---	---	---	---					
KDM7A	80853	broad.mit.edu	37	7	139820279	139820280	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr7:139820279_139820280insC	ENST00000397560.2	-	8	1198_1199	c.1101_1102insG	c.(1099-1104)ggacttfs	p.L368fs	JHDM1D_ENST00000006967.5_Frame_Shift_Ins_p.L368fs	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		368	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TGCAGGAAGTTCCCCCCAAAAG	0.356													8	227	---	---	---	---					
BNC2	54796	broad.mit.edu	37	9	16436374	16436375	+	Frame_Shift_Ins	INS	-	-	G	rs116528562	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr9:16436374_16436375insG	ENST00000380672.4	-	6	1874_1875	c.1817_1818insC	c.(1816-1818)cccfs	p.P606fs	BNC2_ENST00000380666.2_Frame_Shift_Ins_p.P606fs|BNC2_ENST00000545497.1_Frame_Shift_Ins_p.P511fs|BNC2_ENST00000380667.2_Frame_Shift_Ins_p.P539fs	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	606	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CAGAGGGTGGCGGGGGGTGCTG	0.564													11	380	---	---	---	---					
ZNF462	58499	broad.mit.edu	37	9	109691601	109691602	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr9:109691601_109691602insG	ENST00000277225.5	+	3	5697_5698	c.5408_5409insG	c.(5407-5409)tggfs	p.W1803fs	ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs|ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1803					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCCAGCAAGTTGGGGGGCTACT	0.550													8	173	---	---	---	---					
SEC16A	9919	broad.mit.edu	37	9	139345822	139345823	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr9:139345822_139345823insG	ENST00000313050.7	-	21	6270_6271	c.6197_6198insC	c.(6196-6198)cggfs	p.R2066fs	SEC16A_ENST00000371706.3_Frame_Shift_Ins_p.R1888fs|SEC16A_ENST00000431893.2_Frame_Shift_Ins_p.R1888fs|SEC16A_ENST00000290037.6_Frame_Shift_Ins_p.R1888fs	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1888	Pro-rich.|Required for interaction with SEC23A.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GATCCCACCCTGGGGGGGCCTC	0.629													7	32	---	---	---	---					
DLG2	1740	broad.mit.edu	37	11	84027990	84027991	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:84027990_84027991insC	ENST00000280241.8	-	1	197_198	c.198_199insG	c.(196-201)ggccagfs	p.Q67fs	DLG2_ENST00000398309.2_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000398301.2_Frame_Shift_Ins_p.Q67fs|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000376104.2_Intron	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TTGAAGCTGGACCCCCCGGTCC	0.609													8	392	---	---	---	---					
SRSF8	10929	broad.mit.edu	37	11	94801196	94801197	+	RNA	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:94801196_94801197insC	ENST00000529911.1	+	0	836_837					NM_032102.3	NP_115285.1	Q9BRL6	SRSF8_HUMAN	serine/arginine-rich splicing factor 8						mRNA processing|RNA splicing	nucleus	nucleotide binding|RNA binding										GATCCAAGAGGCCCCCCAAGTC	0.535													7	97	---	---	---	---					
CHD4	1108	broad.mit.edu	37	12	6701671	6701672	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:6701671_6701672insT	ENST00000309577.6	-	19	2998_2999	c.2835_2836insA	c.(2833-2838)aatgcafs	p.NA945fs	CHD4_ENST00000544484.1_Frame_Shift_Ins_p.NA942fs|CHD4_ENST00000544040.1_Frame_Shift_Ins_p.NA938fs|CHD4_ENST00000357008.2_Frame_Shift_Ins_p.NA945fs			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	945					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ATGTCATGCAGTTTTTTTATCT	0.460													7	695	---	---	---	---					
MFSD5	84975	broad.mit.edu	37	12	53647283	53647284	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:53647283_53647284insG	ENST00000534842.1	+	2	1132_1133	c.985_986insG	c.(985-987)gggfs	p.G329fs	MFSD5_ENST00000329548.4_Frame_Shift_Ins_p.G222fs	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	222					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						CCTTCGAAACTGGGGGGAGAAC	0.653													8	179	---	---	---	---					
REC8	9985	broad.mit.edu	37	14	24642563	24642564	+	Frame_Shift_Ins	INS	-	-	T	rs148175635	by1000genomes	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr14:24642563_24642564insT	ENST00000311457.3	+	6	1004_1005	c.405_406insT	c.(403-408)ccttttfs	p.PF135fs	REC8_ENST00000559919.1_Frame_Shift_Ins_p.PF135fs			O95072	REC8_HUMAN	REC8 meiotic recombination protein	135					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CTCCAGATCCCTTTTTTGGGAT	0.530													8	470	---	---	---	---					
RBM25	58517	broad.mit.edu	37	14	73572607	73572608	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr14:73572607_73572608delAG	ENST00000261973.7	+	11	1480_1481	c.1195_1196delAG	c.(1195-1197)afs	p.R399fs	RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	399	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		agagcgggaaagagagagagag	0.446													7	107	---	---	---	---					
THBS1	7057	broad.mit.edu	37	15	39881488	39881489	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr15:39881488_39881489insC	ENST00000260356.5	+	12	2024_2025	c.1859_1860insC	c.(1858-1860)tccfs	p.S620fs		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	620	EGF-like 2; calcium-binding (Potential).				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TGCCTGCCCTGCCCCCCACGCT	0.569													8	594	---	---	---	---					
GOLGA6C	653641	broad.mit.edu	37	15	75562488	75562489	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr15:75562488_75562489insC	ENST00000300576.5	+	18	2030_2031	c.2030_2031insC	c.(2029-2031)accfs	p.T677fs		NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	677										ovary(1)	1						CCCCATGACAACCCCCCGGTAC	0.604													7	307	---	---	---	---					
FURIN	5045	broad.mit.edu	37	15	91424956	91424957	+	Frame_Shift_Ins	INS	-	-	G	rs35641241	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr15:91424956_91424957insG	ENST00000268171.3	+	16	2512_2513	c.2233_2234insG	c.(2233-2235)gggfs	p.G745fs		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	745					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	p.R745L(1)		breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CTTTAGTTTTCGGGGGGTGAAG	0.619													8	247	---	---	---	---					
MSLNL	401827	broad.mit.edu	37	16	830785	830786	+	In_Frame_Ins	INS	-	-	CAG			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr16:830785_830786insCAG	ENST00000293892.3	-	3	214_215	c.215_216insCTG	c.(214-216)cca>cCTGca	p.72_73insA	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CGGGTAGGTGACGGTGTGCACG	0.589													9	238	---	---	---	---					
CIITA	4261	broad.mit.edu	37	16	10995899	10995900	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr16:10995899_10995900insC	ENST00000324288.8	+	7	619_620	c.486_487insC	c.(484-489)gaccccfs	p.DP162fs	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_3'UTR	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, """								13	956	---	---	---	---					
PRRT2	112476	broad.mit.edu	37	16	29825015	29825016	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr16:29825015_29825016insC	ENST00000300797.6	+	2	814_815	c.640_641insC	c.(640-642)cccfs	p.P214fs	PRRT2_ENST00000567659.1_Frame_Shift_Ins_p.P214fs|PRRT2_ENST00000567551.1_3'UTR|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000358758.7_Frame_Shift_Ins_p.P214fs			Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	214	Pro-rich.			A -> AP (in Ref. 3; CAD38881).	response to biotic stimulus	integral to membrane		p.R217fs*12(1)|p.A214P(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						AGCCAATGGGGCCCCCCCCCGA	0.653													3	5	---	---	---	---					
PLD2	5338	broad.mit.edu	37	17	4719138	4719139	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr17:4719138_4719139insG	ENST00000263088.6	+	14	1495_1496	c.1364_1365insG	c.(1363-1365)cggfs	p.R455fs	PLD2_ENST00000572940.1_Frame_Shift_Ins_p.R455fs	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	455	Catalytic.|PLD phosphodiesterase 1.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GTAGCATTCCTGGGGGGACTGG	0.594											OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	542	---	---	---	---					
GPATCH8	23131	broad.mit.edu	37	17	42476034	42476035	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr17:42476034_42476035insG	ENST00000434000.1	-	9	3458_3459	c.3176_3177insC	c.(3175-3177)ctcfs	p.L1059fs	GPATCH8_ENST00000591680.1_Frame_Shift_Ins_p.L1137fs			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1137						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGCCAAGAGATGGGGGGAGCTT	0.554													7	2093	---	---	---	---					
MRPL10	124995	broad.mit.edu	37	17	45905873	45905874	+	Frame_Shift_Ins	INS	-	-	G	rs147331240		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr17:45905873_45905874insG	ENST00000290208.7	-	2	697_698	c.245_246insC	c.(244-246)ccafs	p.P82fs	MRPL10_ENST00000351111.2_Frame_Shift_Ins_p.P72fs|MRPL10_ENST00000414011.1_Frame_Shift_Ins_p.P82fs			Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	72					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						TTACCTCCTGTGGGGGGCTGGG	0.525													7	253	---	---	---	---					
MRPL38	64978	broad.mit.edu	37	17	73895694	73895695	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr17:73895694_73895695insG	ENST00000309352.3	-	7	1308_1309	c.771_772insC	c.(769-774)cctcccfs	p.P258fs	RP11-552F3.10_ENST00000587267.1_RNA|MRPL38_ENST00000409963.3_Frame_Shift_Ins_p.P74fs	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	258						actin cytoskeleton|mitochondrion|ribosome				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGGCAGGGAAGGGGGGGAGGT	0.614													3	5	---	---	---	---					
ZBTB7C	201501	broad.mit.edu	37	18	45566518	45566519	+	Frame_Shift_Ins	INS	-	-	C	rs113275715		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr18:45566518_45566519insC	ENST00000588982.1	-	3	1461_1462	c.960_961insG	c.(958-963)ggctctfs	p.S321fs	ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.S321fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.S321fs|ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.S321fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.S321fs			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	321	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GGTCCCAGAGGCCCCCCCGGCA	0.624													17	520	---	---	---	---					
ZBTB7C	201501	broad.mit.edu	37	18	45567075	45567076	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr18:45567075_45567076insC	ENST00000588982.1	-	3	904_905	c.403_404insG	c.(403-405)ggafs	p.G135fs	ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.G135fs			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	135	Asp-rich.|Glu-rich.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						gtcatcctcctcccccccgtcc	0.574													7	246	---	---	---	---					
ECSIT	51295	broad.mit.edu	37	19	11618820	11618821	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr19:11618820_11618821insG	ENST00000270517.7	-	5	916_917	c.781_782insC	c.(781-783)gccfs	p.A261fs	ECSIT_ENST00000417981.2_Frame_Shift_Ins_p.A47fs|ECSIT_ENST00000591104.1_Frame_Shift_Ins_p.A261fs|ECSIT_ENST00000252440.7_Frame_Shift_Ins_p.A261fs|ECSIT_ENST00000588998.1_Frame_Shift_Ins_p.A47fs|ECSIT_ENST00000592312.1_Frame_Shift_Ins_p.A145fs|ECSIT_ENST00000591352.1_5'UTR	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	261					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GATGTGGGGCTGGGGGGGATCT	0.584													7	202	---	---	---	---					
MPV17L2	84769	broad.mit.edu	37	19	18305818	18305819	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr19:18305818_18305819insC	ENST00000599612.2	+	4	586_587	c.486_487insC	c.(484-489)gtccccfs	p.VP162fs	MPV17L2_ENST00000534474.2_Frame_Shift_Ins_p.P137fs	NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	162						integral to membrane				large_intestine(1)|lung(2)|urinary_tract(1)	4						TCCTCTTCGTGCCCCCCCAATT	0.653													15	259	---	---	---	---					
CD22	933	broad.mit.edu	37	19	35832248	35832249	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr19:35832248_35832249insC	ENST00000085219.5	+	8	1576_1577	c.1510_1511insC	c.(1510-1512)cccfs	p.P504fs	CD22_ENST00000536635.2_Frame_Shift_Ins_p.P416fs|CD22_ENST00000544992.2_Frame_Shift_Ins_p.P504fs|CD22_ENST00000419549.2_Frame_Shift_Ins_p.P332fs|CD22_ENST00000270311.6_Frame_Shift_Ins_p.P384fs|CD22_ENST00000341773.6_Frame_Shift_Ins_p.P327fs|CD22_ENST00000594250.1_Frame_Shift_Ins_p.P327fs	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	504					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CCCTCCAGATGCCCCCCGAGAC	0.619													7	213	---	---	---	---					
NSFL1C	55968	broad.mit.edu	37	20	1426464	1426465	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr20:1426464_1426465insG	ENST00000216879.4	-	8	1663_1664	c.796_797insC	c.(796-798)ggtfs	p.G266fs	NSFL1C_ENST00000350991.4_Frame_Shift_Ins_p.G268fs|NSFL1C_ENST00000353088.2_Frame_Shift_Ins_p.G235fs|NSFL1C_ENST00000381658.4_Frame_Shift_Ins_p.G155fs|NSFL1C_ENST00000476071.1_Frame_Shift_Ins_p.G268fs|NSFL1C_ENST00000461211.1_5'UTR	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	266						chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						ACTCAACACCTGGGGGGCAGTG	0.510													7	588	---	---	---	---					
MID1	4281	broad.mit.edu	37	X	10417613	10417614	+	Frame_Shift_Ins	INS	-	-	G	rs1802191		TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chrX:10417613_10417614insG	ENST00000317552.4	-	10	2198_2199	c.1798_1799insC	c.(1798-1800)cctfs	p.P600fs	MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380785.1_Frame_Shift_Ins_p.P600fs|MID1_ENST00000380780.1_Frame_Shift_Ins_p.P600fs|MID1_ENST00000453318.2_Frame_Shift_Ins_p.P600fs|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380787.1_Frame_Shift_Ins_p.P600fs|MID1_ENST00000380779.1_Frame_Shift_Ins_p.P600fs	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	600	B30.2/SPRY.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCGCCGGAGGTGGGGGGCAGGC	0.540													13	1152	---	---	---	---					
NOX1	27035	broad.mit.edu	37	X	100117691	100117692	+	Frame_Shift_Ins	INS	-	-	C	rs145552525	byFrequency	TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chrX:100117691_100117692insC	ENST00000372966.3	-	5	660_661	c.455_456insG	c.(454-456)gtcfs	p.V152fs	NOX1_ENST00000217885.5_Frame_Shift_Ins_p.V152fs|NOX1_ENST00000372960.4_Frame_Shift_Ins_p.V115fs|NOX1_ENST00000372964.1_Frame_Shift_Ins_p.V152fs	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	152	Ferric oxidoreductase.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TTAGCCAAGAACCCCCCTTTTT	0.500													7	593	---	---	---	---					
PASD1	139135	broad.mit.edu	37	X	150842424	150842425	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3777-01A-01W-0886-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792ef39b-84e5-490b-b594-4ad5adcf90ae	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chrX:150842424_150842425insC	ENST00000370357.4	+	15	2186_2187	c.1941_1942insC	c.(1939-1944)ggccccfs	p.GP647fs		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	647						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTATCAAGGGCCCCCCGTGAA	0.455													7	238	---	---	---	---					
SKI	6497	broad.mit.edu	37	1	2235396	2235397	+	Frame_Shift_Ins	INS	-	-	G	rs150033567	byFrequency	TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:2235396_2235397insG	ENST00000378536.4	+	4	1401_1402	c.1329_1330insG	c.(1327-1332)ccagccfs	p.A444fs		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	444					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CCCGGGCCCCCGAGCCTCTCGC	0.718													7	20	---	---	---	---					
SCN1A	6323	broad.mit.edu	37	2	166903319	166903321	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr2:166903319_166903321delCTG	ENST00000423058.2	-	9	1353_1355	c.1336_1338delCAG	c.(1336-1338)del	p.Q446del	SCN1A_ENST00000375405.3_In_Frame_Del_p.Q446del|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_In_Frame_Del_p.Q446del|SCN1A_ENST00000303395.4_In_Frame_Del_p.Q446del|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	446						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GTTCAATCATCTGCTGAAATTCG	0.458													45	42	---	---	---	---					
FIP1L1	81608	broad.mit.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr4:54319248_54319249delAG	ENST00000337488.6	+	16	1641_1642	c.1447_1448delAG	c.(1447-1449)afs	p.R483fs	FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	483	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing	nucleus	RNA binding	p.R487fs*3(2)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			agaACGCACCAGAGAGAGAGAG	0.470			T	PDGFRA	idiopathic hypereosinophilic syndrome								8	167	---	---	---	---					
UTP3	57050	broad.mit.edu	37	4	71554620	71554622	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr4:71554620_71554622delGAG	ENST00000254803.2	+	1	425_427	c.226_228delGAG	c.(226-228)del	p.E81del		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	81	Glu-rich.				brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			ggaggatggcgaggaggaggagg	0.567													7	102	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131195806	131195807	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr7:131195806_131195807insG	ENST00000541194.1	-	2	749_750	c.492_493insC	c.(490-495)aggccafs	p.RP164fs	PODXL_ENST00000322985.9_Frame_Shift_Ins_p.RP162fs|PODXL_ENST00000537928.1_Frame_Shift_Ins_p.RP162fs|PODXL_ENST00000378555.3_Frame_Shift_Ins_p.RP162fs	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	162	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ACACTGTGGCTGCTTTTCCCCC	0.535													7	767	---	---	---	---					
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754	byFrequency	TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cca>c	p.PPT469del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	469	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573													10	20	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	RNA	INS	-	-	C	rs36063533		TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													8	24	---	---	---	---					
RP11-114H23.1	0	broad.mit.edu	37	12	76082490	76082491	+	RNA	INS	-	-	T	rs141632958		TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:76082490_76082491insT	ENST00000552856.1	-	0	401																											cattctTTTTCTTTTTTTTTTT	0.361													7	11	---	---	---	---					
UBC	7316	broad.mit.edu	37	12	125398295	125398296	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:125398295_125398296delAG	ENST00000536769.1	-	1	1598_1599	c.22_23delCT	c.(22-24)gfs	p.L8fs	UBC_ENST00000546120.1_Frame_Shift_Del_p.L8fs|UBC_ENST00000339647.5_Frame_Shift_Del_p.L8fs|UBC_ENST00000538617.1_Frame_Shift_Del_p.L8fs|UBC_ENST00000536661.1_5'UTR			P0CG48	UBC_HUMAN	ubiquitin C	8	Ubiquitin-like 1.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTTACCAGTCAGAGTCTTCACG	0.450													7	352	---	---	---	---					
POLE	5426	broad.mit.edu	37	12	133220099	133220100	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:133220099_133220100delCA	ENST00000320574.5	-	34	4380_4381	c.4337_4338delTG	c.(4336-4338)gfs	p.V1447fs	POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1447					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)		GTTTATTGACCACACACACACA	0.604								DNA polymerases (catalytic subunits)					12	614	---	---	---	---					
GOLGA8DP	100132979	broad.mit.edu	37	15	22709277	22709278	+	RNA	INS	-	-	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr15:22709277_22709278insA	ENST00000314246.8	-	0	1157																											CTCTGGATTCCAaaaaaaaaag	0.515													9	150	---	---	---	---					
SCARF1	8578	broad.mit.edu	37	17	1548956	1548957	+	In_Frame_Ins	INS	-	-	AGC	rs142617742	by1000genomes	TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr17:1548956_1548957insAGC	ENST00000263071.4	-	1	84_85	c.35_36insGCT	c.(34-36)ctg>cGCTtg	p.11_12insR	SCARF1_ENST00000348987.3_In_Frame_Ins_p.11_12insR|SCARF1_ENST00000571272.1_In_Frame_Ins_p.11_12insR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	11					cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCCGAGTCCAGAGCAGCAGCAG	0.698													8	10	---	---	---	---					
CCDC144B	284047	broad.mit.edu	37	17	18498497	18498498	+	RNA	INS	-	-	A	rs72195768		TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr17:18498497_18498498insA	ENST00000442583.1	-	0	749																				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTGCAGGCCTGAAAAAAAAAAA	0.243													2	4	---	---	---	---					
NUFIP2	57532	broad.mit.edu	37	17	27620806	27620808	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr17:27620806_27620808delTTC	ENST00000225388.4	-	1	328_330	c.270_272delGAA	c.(268-273)aaa>aa	p.KK90del	NUFIP2_ENST00000579665.1_In_Frame_Del_p.KK90del	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	90						nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			caGACCTGTTTTCTTCTTCGGCG	0.645													9	260	---	---	---	---					
SERPINB3	6317	broad.mit.edu	37	18	61324536	61324537	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr18:61324536_61324537insT	ENST00000283752.5	-	6	722_723	c.579_580insA	c.(577-582)gaatacfs	p.Y194fs	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Frame_Shift_Ins_p.Y194fs	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	194					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TCTTTAGTATCTTCTTTATTAA	0.292													8	167	---	---	---	---					
ADNP2	22850	broad.mit.edu	37	18	77895551	77895552	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr18:77895551_77895552insT	ENST00000262198.4	+	4	2710_2711	c.2255_2256insT	c.(2254-2256)taafs	p.*752fs		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	752					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TGTCTGTCTTGTAAGTGCTTGG	0.475													14	344	---	---	---	---					
FAM98C	147965	broad.mit.edu	37	19	38899502	38899504	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr19:38899502_38899504delAAG	ENST00000252530.5	+	8	1049_1051	c.1030_1032delAAG	c.(1030-1032)del	p.K349del	FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del|FAM98C_ENST00000588262.1_3'UTR	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	349										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTGGGGTCGCAAGAAGAAGAAGA	0.606													10	132	---	---	---	---					
RSPH6A	81492	broad.mit.edu	37	19	46299147	46299149	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr19:46299147_46299149delCCT	ENST00000221538.3	-	6	2274_2276	c.2132_2134delAGG	c.(2131-2136)ggc>g	p.EG711del	RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG447del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	711	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GTctcctcgccctcctcctcctc	0.557													9	336	---	---	---	---					
