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
TRIM60	166655	broad.mit.edu	37	4	165962566	165962566	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr4:165962566G>A	ENST00000512596.1	+	3	1558	c.1342G>A	c.(1342-1344)Gtt>Att	p.V448I	TRIM60_ENST00000341062.5_Missense_Mutation_p.V448I|TRIM60_ENST00000508504.1_Missense_Mutation_p.V448I	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	448	B30.2/SPRY.					intracellular	zinc ion binding	p.V448I(2)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		CACAGAAGCCGTTTGGCCTTA	0.348000													6	40					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113364697	113364697	+	Missense_Mutation	SNP	T	T	C	rs139786530	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr8:113364697T>C	ENST00000297405.5	-	39	6447	c.6203A>G	c.(6202-6204)tAt>tGt	p.Y2068C	CSMD3_ENST00000352409.3_Missense_Mutation_p.Y1998C|CSMD3_ENST00000343508.3_Missense_Mutation_p.Y2028C|CSMD3_ENST00000455883.2_Missense_Mutation_p.Y1964C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2068	Sushi 11.					integral to membrane|plasma membrane		p.Y2028C(1)|p.Y2068C(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCAACCATATATCTGTCTCC	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	102					0	0	1	0	0
RMND5A	64795	broad.mit.edu	37	2	86993022	86993022	+	Silent	SNP	A	A	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr2:86993022A>G	ENST00000283632.4	+	6	1224	c.729A>G	c.(727-729)caA>caG	p.Q243Q	RMND5A_ENST00000472843.1_3'UTR	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	243								p.Q243Q(1)		kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						ACCTGAGACAAGGGATTGAGA	0.453000													5	95					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29614328	29614328	+	Splice_Site	SNP	G	G	A	rs137860963	by1000genomes	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr20:29614328G>A	ENST00000278882.3	+	2	320		c.e2+1		FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATACGTTGGTGAGTCAGTT	0.289000													3	38					0	0	1	0	0
TPTE2P2	644623	broad.mit.edu	37	13	52864001	52864001	+	RNA	SNP	A	A	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr13:52864001A>G	ENST00000451298.1	-	0	168				RP11-64P12.8_ENST00000606031.1_RNA																							GAAAAAATAAAGCAATAGCTA	0.313000													4	41					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241386	3241386	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chrX:3241386C>T	ENST00000217939.6	-	5	2494	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	780						extracellular region		p.P780P(4)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCCAGCGCTCCGGATTAATCT	0.453000													32	169					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34243574	34243574	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr14:34243574G>A	ENST00000346562.2	+	7	862	c.788G>A	c.(787-789)aGa>aAa	p.R263K	NPAS3_ENST00000356141.4_Missense_Mutation_p.R295K|NPAS3_ENST00000357798.5_Missense_Mutation_p.R282K|NPAS3_ENST00000548645.1_Missense_Mutation_p.R265K|NPAS3_ENST00000551492.1_Missense_Mutation_p.R300K	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.R282K(1)|p.R295K(1)|p.R263K(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CTACGCCTGAGAGTGTCGCTG	0.488000													7	188					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72131361	72131361	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr9:72131361C>T	ENST00000265381.4	-	2	988	c.766G>A	c.(766-768)Gcg>Acg	p.A256T		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	256	Munc-18-1 binding.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		p.A256T(2)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGGTAGGGCGCGAACTCGGCC	0.687000													6	17					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29938182	29938182	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chrX:29938182G>A	ENST00000378993.1	+	8	1701	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R343Q	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	343	Ig-like C2-type 3.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.R343Q(2)|p.R343L(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AATGGACGTCGACACGCCAGC	0.438000													20	228					0	0	1	0	0
SPRY4	81848	broad.mit.edu	37	5	141693820	141693820	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr5:141693820G>C	ENST00000344120.4	-	3	1109	c.923C>G	c.(922-924)gCa>gGa	p.A308G	SPRY4_ENST00000434127.2_Missense_Mutation_p.A285G	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	285					multicellular organismal development	cytoplasm|ruffle membrane	protein binding	p.A308G(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGCTGGCTGCTTTGCAGAT	0.627000									Testicular Cancer, Familial Clustering of				15	67					0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162740301	162740301	+	Splice_Site	SNP	A	A	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:162740301A>G	ENST00000367922.2	+	13	1941	c.1504_splice	c.e13+1	p.S501_splice	DDR2_ENST00000367921.3_Splice_Site_p.S501_splice	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	501					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.S501S(2)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			AGGAGGAGTCAGGTGAGGATG	0.527000													13	111					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6167746	6167746	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr6:6167746T>C	ENST00000264870.3	-	13	2118	c.1853A>G	c.(1852-1854)gAt>gGt	p.D618G		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	618					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.D618G(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGCCAGAACATCCCTGGTCTC	0.537000													27	201					0	0	1	0	0
KAT5	10524	broad.mit.edu	37	11	65482336	65482336	+	Silent	SNP	C	C	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr11:65482336C>G	ENST00000341318.4	+	8	1218	c.984C>G	c.(982-984)cgC>cgG	p.R328R	KAT5_ENST00000534650.1_Silent_p.R84R|KAT5_ENST00000377046.3_Silent_p.R295R|KAT5_ENST00000352980.4_Silent_p.R243R|KAT5_ENST00000530446.1_Silent_p.R276R	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	295					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	p.R328R(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						AGATTTACCGCAAGGGCACCA	0.522000													27	144					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													5	24					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53854397	53854397	+	Missense_Mutation	SNP	G	G	C	rs10415799	by1000genomes	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr19:53854397G>C	ENST00000458035.1	+	4	586	c.469G>C	c.(469-471)Gaa>Caa	p.E157Q	ZNF845_ENST00000595091.1_Missense_Mutation_p.E157Q	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E157Q(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAGACCGAAGGGAAAAT	0.408000													10	219					0	0	1	0	0
RSBN1L	222194	broad.mit.edu	37	7	77379331	77379331	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr7:77379331T>G	ENST00000334955.7	+	3	1321	c.1294T>G	c.(1294-1296)Ttg>Gtg	p.L432V	RSBN1L_ENST00000445288.1_Missense_Mutation_p.L162V	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	432						nucleus		p.L432V(11)		central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AATGGAGATATTGGGAAAGAA	0.303000													15	75					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30945312	30945312	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr8:30945312T>A	ENST00000298139.5	+	12	1701	c.1452T>A	c.(1450-1452)agT>agA	p.S484R		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	484					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	p.S484R(2)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ACCTCAATAGTGGCACGGTAG	0.333000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				47	246					0	0	1	0	0
NAA15	80155	broad.mit.edu	37	4	140265339	140265339	+	Splice_Site	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr4:140265339G>A	ENST00000296543.5	+	6	860		c.e6-1		NAA15_ENST00000480277.2_Splice_Site|NAA15_ENST00000398947.1_Splice_Site	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit						angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	p.?(2)		NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TCCATATACAGACATCCCCTG	0.333000													4	47					0	0	1	0	0
FOXA1	3169	broad.mit.edu	37	14	38061461	38061461	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr14:38061461G>C	ENST00000250448.2	-	2	589	c.528C>G	c.(526-528)atC>atG	p.I176M	FOXA1_ENST00000540786.1_Missense_Mutation_p.I143M|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	176					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.I176M(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TGATGAGCGAGATGTACGAGT	0.657000													21	61					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202131375	202131375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr2:202131375G>T	ENST00000358485.4	+	2	539	c.343G>T	c.(343-345)Gaa>Taa	p.E115*	CASP8_ENST00000392258.3_Nonsense_Mutation_p.E56*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.E56*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.E56*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.E56*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.E56*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.E56*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.E56*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	56	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.E56*(4)|p.E115*(2)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AATGTTGGAGGAAAGCAATCT	0.453000										HNSCC(4;0.00038)			22	111					1.55469e-16	1.64705e-16	1	1	0
C1orf94	84970	broad.mit.edu	37	1	34666634	34666634	+	Splice_Site	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:34666634G>A	ENST00000488417.1	+	3	1390		c.e3+1		C1orf94_ENST00000373374.3_Splice_Site	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94								protein binding	p.?(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GAGCTGAAATGTGAGCTGACC	0.567000													4	15					0	0	1	0	0
ZNF354C	30832	broad.mit.edu	37	5	178503470	178503470	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr5:178503470G>A	ENST00000315475.6	+	3	358	c.52G>A	c.(52-54)Gcc>Acc	p.A18T		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	18	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A18T(1)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		CAGGGATGTGGCCGTGTTCTT	0.552000													17	381					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28671107	28671107	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr18:28671107G>A	ENST00000280904.6	-	4	801	c.358C>T	c.(358-360)Cta>Tta	p.L120L	DSC2_ENST00000251081.6_Silent_p.L120L	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	120					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.L120L(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CTTTTCTTTAGGACCTCAATT	0.378000													11	67					0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681728	55681728	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr11:55681728C>T	ENST00000344514.1	-	1	330	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E111K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGTAGACACTCAGAATCTGCA	0.468000													10	250					0	0	1	0	0
CSF1	1435	broad.mit.edu	37	1	110465931	110465931	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:110465931G>A	ENST00000329608.6	+	6	1079	c.688G>A	c.(688-690)Gag>Aag	p.E230K	CSF1_ENST00000369801.1_Missense_Mutation_p.E230K|CSF1_ENST00000369802.3_Missense_Mutation_p.E230K|CSF1_ENST00000344188.5_Missense_Mutation_p.E230K|CSF1_ENST00000420111.2_Intron	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	230					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity	p.E230K(2)		breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGAGGGAACTGAGGGCAGCTC	0.662000											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	54					0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32893880	32893880	+	RNA	SNP	G	G	A	rs149083075		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr16:32893880G>A	ENST00000330048.5	-	0	1377					NR_003083.2																						GGGGACTGGCGGTCAGCAAGC	0.617000													6	71					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76083029	76083029	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr17:76083029G>A	ENST00000335749.4	+	13	4217	c.3648G>A	c.(3646-3648)ccG>ccA	p.P1216P	TNRC6C_ENST00000544502.1_Silent_p.P1216P|TNRC6C_ENST00000588847.1_Silent_p.P1216P|TNRC6C_ENST00000541771.1_Silent_p.P1219P|TNRC6C_ENST00000588061.1_Silent_p.P1219P|TNRC6C_ENST00000301624.4_Silent_p.P1219P	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1219	Pro-rich.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	p.P1216P(1)|p.P1219P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CACCGCCACCGCCCCCGCCGC	0.667000													2	7					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39895535	39895535	+	Missense_Mutation	SNP	G	G	A	rs148290248	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:39895535G>A	ENST00000564288.1	+	65	17702	c.16925G>A	c.(16924-16926)gGt>gAt	p.G5642D	MACF1_ENST00000372915.3_Missense_Mutation_p.G5538D|MACF1_ENST00000545844.1_Missense_Mutation_p.G3580D|MACF1_ENST00000539005.1_Missense_Mutation_p.G3450D|MACF1_ENST00000289893.4_Missense_Mutation_p.G4082D|MACF1_ENST00000317713.7_Missense_Mutation_p.G3580D|MACF1_ENST00000361689.2_Missense_Mutation_p.G3580D|MACF1_ENST00000567887.1_Missense_Mutation_p.G5679D			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5647					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	p.G4082D(1)|p.G3580D(1)		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)			AAACTAGATGGTATAAAGACT	0.453000													5	147					0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10500113	10500113	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr11:10500113C>T	ENST00000396554.3	+	3	630	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	AMPD3_ENST00000444303.2_Intron	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	88					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.L97L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GTCCCTGTCTCTGCAAATGCC	0.547000													10	295					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176740237	176740237	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:176740237C>T	ENST00000367662.3	+	17	5800	c.4636C>T	c.(4636-4638)Cac>Tac	p.H1546Y		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1546	Sushi 3.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.H1546Y(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCAGGACAACCACGACGTGGG	0.498000													12	413					0	0	1	0	0
GPN2	54707	broad.mit.edu	37	1	27216290	27216290	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:27216290C>T	ENST00000374135.4	-	1	498	c.298G>A	c.(298-300)Gac>Aac	p.D100N		NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	100							GTP binding	p.D100N(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						CGGAGGGGGTCGAGCTTGGCA	0.667000													7	53					0	0	1	0	0
TANGO6	79613	broad.mit.edu	37	16	68941376	68941376	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr16:68941376G>A	ENST00000261778.1	+	10	1710	c.1698G>A	c.(1696-1698)caG>caA	p.Q566Q		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)									p.Q95Q(2)|p.Q566Q(2)									CCCTGTACCAGAAGGTATCCT	0.473000													30	219					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32621515	32621515	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr8:32621515G>A	ENST00000338921.4	+	13	2059	c.1542G>A	c.(1540-1542)gcG>gcA	p.A514A	NRG1_ENST00000356819.4_Silent_p.A511A|NRG1_ENST00000287845.5_Silent_p.A477A|NRG1_ENST00000287840.5_Silent_p.A506A|NRG1_ENST00000287842.3_Silent_p.A503A|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000519301.1_Silent_p.A456A|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000405005.2_Silent_p.A506A|NRG1_ENST00000539990.1_Silent_p.A349A			Q02297	NRG1_HUMAN	neuregulin 1	506					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	p.A511A(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ACAACCCCGCGCATGACAGTA	0.542000													10	91					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202137390	202137390	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr2:202137390G>C	ENST00000358485.4	+	4	814	c.618G>C	c.(616-618)gaG>gaC	p.E206D	CASP8_ENST00000392258.3_Missense_Mutation_p.E147D|CASP8_ENST00000323492.7_Missense_Mutation_p.E147D|CASP8_ENST00000392266.3_Missense_Mutation_p.E147D|CASP8_ENST00000392259.2_Missense_Mutation_p.E147D|CASP8_ENST00000432109.2_Missense_Mutation_p.E147D|CASP8_ENST00000264274.9_Missense_Mutation_p.E147D|CASP8_ENST00000264275.5_Missense_Mutation_p.E179D	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	147					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.E179D(4)|p.E206D(2)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TAGAGATGGAGAAGAGGGTCA	0.398000										HNSCC(4;0.00038)			53	263					0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72404811	72404811	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr11:72404811A>G	ENST00000359373.5	-	28	4585	c.3734T>C	c.(3733-3735)cTg>cCg	p.L1245P	ARAP1_ENST00000495878.1_5'UTR|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000334211.8_Missense_Mutation_p.L1000P|ARAP1_ENST00000393609.3_Missense_Mutation_p.L1245P|ARAP1_ENST00000426523.1_Missense_Mutation_p.L1000P|ARAP1_ENST00000393605.3_Missense_Mutation_p.L1005P|ARAP1_ENST00000429686.1_Missense_Mutation_p.L939P|ARAP1_ENST00000455638.2_Missense_Mutation_p.L1245P			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1245	Ras-associating.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	p.L1005P(1)|p.L1245P(1)		cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CAGCCCGTGCAGGATGGGCAG	0.652000													9	31					0	0	1	0	0
TMEM106B	54664	broad.mit.edu	37	7	12263990	12263990	+	Silent	SNP	T	T	G	rs140753733	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr7:12263990T>G	ENST00000396667.2	+	5	742	c.420T>G	c.(418-420)cgT>cgG	p.R140R	TMEM106B_ENST00000396668.3_Silent_p.R140R	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	140						integral to membrane		p.R140R(8)		NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		TTCAGAAGCGTACAATTTATT	0.343000													23	273					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146351336	146351336	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr6:146351336C>T	ENST00000392299.2	+	2	1153	c.683C>T	c.(682-684)tCt>tTt	p.S228F	GRM1_ENST00000492807.2_Missense_Mutation_p.S228F|GRM1_ENST00000507907.1_Missense_Mutation_p.S228F|GRM1_ENST00000361719.2_Missense_Mutation_p.S228F|GRM1_ENST00000282753.1_Missense_Mutation_p.S228F|GRM1_ENST00000355289.4_Missense_Mutation_p.S228F			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	228					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.S228F(4)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ACCTATGTCTCTGCAGTCCAC	0.448000													28	176					0	0	1	0	0
AQP10	89872	broad.mit.edu	37	1	154296116	154296116	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:154296116C>T	ENST00000484864.1	+	5	577	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	AQP10_ENST00000324978.3_Missense_Mutation_p.R181W|AQP10_ENST00000355197.4_3'UTR			Q96PS8	AQP10_HUMAN	aquaporin 10	181					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	p.R181W(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTGGACAGACGGAACAAGGG	0.612000													8	132					0	0	1	0	0
PAPOLA	10914	broad.mit.edu	37	14	97022682	97022682	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr14:97022682A>G	ENST00000216277.8	+	19	2156	c.1936A>G	c.(1936-1938)Ata>Gta	p.I646V	PAPOLA_ENST00000392990.2_Missense_Mutation_p.I646V	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	646					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	p.I646V(2)		breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ACCTACTCCTATAGTAGGAGT	0.398000													60	246					0	0	1	0	0
FAM149A	25854	broad.mit.edu	37	4	187084634	187084634	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr4:187084634C>T	ENST00000356371.5	+	10	1763	c.1763C>T	c.(1762-1764)cCg>cTg	p.P588L	FAM149A_ENST00000502970.1_Missense_Mutation_p.P297L|FAM149A_ENST00000227065.4_Missense_Mutation_p.P297L|FAM149A_ENST00000503432.1_Missense_Mutation_p.P297L|FAM149A_ENST00000389354.5_Missense_Mutation_p.P297L|FAM149A_ENST00000514153.1_Missense_Mutation_p.P297L			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	588								p.P297L(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		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;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TCCTCCGCACCGCACAGACTG	0.557000													43	172					0	0	1	0	0
EFCAB12	90288	broad.mit.edu	37	3	129137132	129137132	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr3:129137132T>G	ENST00000505956.1	-	3	808	c.646A>C	c.(646-648)Atc>Ctc	p.I216L	EFCAB12_ENST00000326085.3_Missense_Mutation_p.I216L	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12									p.I216L(2)									TCCCTGGTGATTCTCTGGTTC	0.547000													11	123					0	0	1	0	0
PFKL	5211	broad.mit.edu	37	21	45738376	45738376	+	Silent	SNP	G	G	A	rs142092923		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr21:45738376G>A	ENST00000403390.1	+	11	1101	c.1101G>A	c.(1099-1101)gcG>gcA	p.A367A	PFKL_ENST00000349048.4_Silent_p.A320A			P17858	K6PL_HUMAN	phosphofructokinase, liver	320					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	p.A367A(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GCATGGAGGCGGTGATGGCGC	0.642000													2	4					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115393903	115393903	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr10:115393903G>C	ENST00000369358.4	-	15	1739	c.1495C>G	c.(1495-1497)Caa>Gaa	p.Q499E	NRAP_ENST00000360478.3_Missense_Mutation_p.Q464E|NRAP_ENST00000359988.3_Missense_Mutation_p.Q499E|NRAP_ENST00000369360.3_Missense_Mutation_p.Q464E			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	499						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.Q499E(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATTTTGGCTTGAACAATCTGT	0.473000													16	626					0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122774779	122774779	+	Missense_Mutation	SNP	A	A	G	rs147035469	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr11:122774779A>G	ENST00000227349.2	+	3	788	c.491A>G	c.(490-492)tAc>tGc	p.Y164C	C11orf63_ENST00000531316.1_Missense_Mutation_p.Y164C|C11orf63_ENST00000307257.6_Missense_Mutation_p.Y164C	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	164								p.Y164C(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GCTCCCCTCTACCCTTCCCAG	0.517000													10	47					0	0	1	0	0
MSN	4478	broad.mit.edu	37	X	64959737	64959737	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chrX:64959737C>T	ENST00000360270.5	+	13	1888	c.1716C>T	c.(1714-1716)gaC>gaT	p.D572D	MSN_ENST00000486030.1_3'UTR	NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	572					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	p.D572D(1)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						AGCGCATTGACGAATTTGAGT	0.532000			T	ALK	ALCL								64	980					0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1238077	1238077	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr5:1238077A>C	ENST00000324642.3	+	5	757	c.634A>C	c.(634-636)Aca>Cca	p.T212P	SLC6A18_ENST00000296821.4_Missense_Mutation_p.T212P	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	212					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GATTTACTTCACAGCTTTGTT	0.512000													7	34					0	0	1	0	0
PLP2	5355	broad.mit.edu	37	X	49029495	49029495	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chrX:49029495T>C	ENST00000376327.5	+	2	191	c.116T>C	c.(115-117)cTg>cCg	p.L39P	PLP2_ENST00000376322.3_Missense_Mutation_p.L39P	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	39	MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity	p.L39P(2)		endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						CTGGTGATCCTGATCTGCTTC	0.493000													12	88					0	0	1	0	0
HSPA5	3309	broad.mit.edu	37	9	128000573	128000573	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr9:128000573G>A	ENST00000324460.6	-	7	1452	c.1249C>T	c.(1249-1251)Ctt>Ttt	p.L417F		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	417					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	p.L417F(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	CATACATCAAGCAGTACCAGG	0.398000										Prostate(1;0.17)			21	102					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229779279	229779279	+	Splice_Site	SNP	G	G	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:229779279G>T	ENST00000258243.2	+	5	3770		c.e5-1			NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							nucleolus		p.?(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TTCCCACACAGATCCTGAAAT	0.458000													6	108					1.06961e-07	1.10047e-07	1	1	0
BROX	148362	broad.mit.edu	37	1	222900585	222900585	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:222900585T>C	ENST00000340934.5	+	8	1062	c.656T>C	c.(655-657)tTc>tCc	p.F219S	BROX_ENST00000539697.1_Missense_Mutation_p.F187S|BROX_ENST00000537020.1_Missense_Mutation_p.F219S	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	219	BRO1.					membrane		p.F219S(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						ACAGCCAATTTCTATCAAAAA	0.343000													26	119					0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51487353	51487353	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chrX:51487353C>T	ENST00000340438.4	+	1	873	c.631C>T	c.(631-633)Cat>Tat	p.H211Y		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	211					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding	p.H211Y(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					ATTCATTGGCCATGTAGACGC	0.403000													5	72					0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064470	78064470	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr16:78064470A>G	ENST00000299642.4	+	3	438	c.353A>G	c.(352-354)gAc>gGc	p.D118G	CLEC3A_ENST00000565808.1_3'UTR|CLEC3A_ENST00000575655.1_Missense_Mutation_p.D109G|RP11-281J9.2_ENST00000563114.1_RNA	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	109	C-type lectin.				skeletal system development	extracellular region	sugar binding	p.D109G(2)		NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						AGGAACTCCGACGAAATCAAC	0.473000													25	178					0	0	1	0	0
PTMA	5757	broad.mit.edu	37	2	232577559	232577559	+	Nonstop_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr2:232577559T>C	ENST00000409115.3	+	5	529	c.331T>C	c.(331-333)Tag>Cag	p.*111Q	PTMA_ENST00000466801.1_3'UTR|PTMA_ENST00000410064.1_Nonstop_Mutation_p.*137Q|PTMA_ENST00000409683.1_Nonstop_Mutation_p.*108Q|PTMA_ENST00000409321.1_Nonstop_Mutation_p.*132Q|PTMA_ENST00000341369.7_Nonstop_Mutation_p.*112Q	NM_002823.4	NP_002814.3	P06454	PTMA_HUMAN	prothymosin, alpha	0					transcription, DNA-dependent	nucleus		p.*111Q(1)		lung(3)|ovary(1)|prostate(1)|skin(1)	6		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CGAGGATGACTAGACAGCAAA	0.488000													2	7					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101073106	101073106	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr6:101073106C>T	ENST00000369162.2	-	30	5091	c.4747G>A	c.(4747-4749)Gaa>Aaa	p.E1583K		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1583	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.E1583K(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TTTGGATCTTCTTCAGTAGCC	0.378000													6	117					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125671706	125671706	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr2:125671706C>T	ENST00000431078.1	+	24	4126	c.3762C>T	c.(3760-3762)atC>atT	p.I1254I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1254					cell adhesion|signal transduction	integral to membrane	receptor binding	p.I1254I(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCTTCTGTATCATCGGCATCA	0.473000													46	626					0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53012246	53012246	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr12:53012246G>A	ENST00000305748.3	-	1	97	c.63C>T	c.(61-63)tcC>tcT	p.S21S		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	21	Gly-rich.|Head.					keratin filament	structural molecule activity	p.S21S(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGAGCACAGCGGAGCAGCCGC	0.642000													10	22					0	0	1	0	0
KCNMB1	3779	broad.mit.edu	37	5	169812334	169812334	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr5:169812334G>T	ENST00000274629.4	-	2	560	c.118C>A	c.(118-120)Ccc>Acc	p.P40T	KCNMB1_ENST00000521859.1_Missense_Mutation_p.P40T|KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	40					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity	p.P40T(2)		endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		TGGTAGAGGGGCAGCACAGTC	0.597000													19	117					2.21704e-12	2.32571e-12	1	1	0
SCN7A	6332	broad.mit.edu	37	2	167301341	167301341	+	Silent	SNP	T	T	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr2:167301341T>C	ENST00000409855.1	-	12	1683	c.1557A>G	c.(1555-1557)gtA>gtG	p.V519V		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	519					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V519V(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TCAGAAAACATACGTTTAAAA	0.323000													12	39					0	0	1	0	0
FAM46D	169966	broad.mit.edu	37	X	79698599	79698599	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chrX:79698599C>A	ENST00000538312.1	+	5	895	c.561C>A	c.(559-561)taC>taA	p.Y187*	FAM46D_ENST00000308293.5_Nonsense_Mutation_p.Y187*	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	187								p.Y187*(1)		kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TAGACTTCTACAGTGACAAAA	0.383000													16	140					5.3912e-06	5.44206e-06	1	1	0
NDUFAF3	25915	broad.mit.edu	37	3	49060156	49060156	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr3:49060156A>G	ENST00000326925.6	+	3	1426	c.292A>G	c.(292-294)Acc>Gcc	p.T98A	NDUFAF3_ENST00000395458.2_Missense_Mutation_p.T41A|NDUFAF3_ENST00000326912.4_Missense_Mutation_p.T41A|NDUFAF3_ENST00000451378.2_Missense_Mutation_p.T41A	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	98					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding	p.T98A(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						CCAGGACATCACCGAAGACAG	0.592000													20	123					0	0	1	0	0
C14orf177	283598	broad.mit.edu	37	14	99183502	99183502	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr14:99183502G>T	ENST00000325812.2	+	4	688	c.269G>T	c.(268-270)gGg>gTg	p.G90V		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	90								p.G90V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				ACTTCTCCAGGGTCATGTAAT	0.433000													14	256					1.75922e-31	1.88236e-31	1	1	0
NGLY1	55768	broad.mit.edu	37	3	25824758	25824758	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr3:25824758T>C	ENST00000428257.1	-	1	231	c.124A>G	c.(124-126)Atc>Gtc	p.I42V	NGLY1_ENST00000280700.5_Missense_Mutation_p.I42V|NGLY1_ENST00000417874.2_Intron|NGLY1_ENST00000396649.3_Missense_Mutation_p.I42V	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	42	PUB.				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	p.I42V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CACCTGAGGATGTTGTCAGCA	0.682000													6	14					0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978972	247978972	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:247978972A>C	ENST00000357627.1	-	1	59	c.60T>G	c.(58-60)aaT>aaG	p.N20K		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N20K(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AAATGCACATATTTTTATTGG	0.383000													40	127					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89923108	89923108	+	Silent	SNP	C	C	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr5:89923108C>A	ENST00000405460.2	+	7	849	c.753C>A	c.(751-753)tcC>tcA	p.S251S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	251					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.S251S(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTAGGAATTCCATTGAGATCA	0.343000													9	75					3.09899e-07	3.15801e-07	1	1	0
SOS1	6654	broad.mit.edu	37	2	39278344	39278344	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr2:39278344T>C	ENST00000426016.1	-	7	891	c.805A>G	c.(805-807)Atg>Gtg	p.M269V	SOS1_ENST00000428721.2_Missense_Mutation_p.M212V|SOS1_ENST00000402219.2_Missense_Mutation_p.M269V|SOS1_ENST00000395038.2_Missense_Mutation_p.M269V			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	269	DH.		M -> R (in NS4).|M -> T (in NS4).		apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.M269V(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TCATCTGTCATTTCTACTGTA	0.378000									Noonan syndrome				37	115					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72020908	72020908	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr15:72020908C>T	ENST00000355327.3	+	9	1512	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.R100C|THSD4_ENST00000261862.6_Missense_Mutation_p.R460C			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	460						proteinaceous extracellular matrix	metalloendopeptidase activity	p.R460C(2)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCGTTCTGGACGCTCCATCAT	0.507000													120	431					0	0	1	0	0
RNASE4	6038	broad.mit.edu	37	14	21167803	21167803	+	Silent	SNP	A	A	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr14:21167803A>G	ENST00000555835.1	+	2	949	c.273A>G	c.(271-273)caA>caG	p.Q91Q	AL163636.6_ENST00000553909.1_RNA|RNASE4_ENST00000555597.1_Silent_p.Q91Q|RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000397995.2_Silent_p.Q91Q|RNASE4_ENST00000304704.4_Silent_p.Q91Q	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	91					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.Q91Q(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		CCAATATCCAATGCAAGAACG	0.483000													38	800					0	0	1	0	0
PDIA3	2923	broad.mit.edu	37	15	44038800	44038800	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr15:44038800C>T	ENST00000300289.5	+	1	211	c.63C>T	c.(61-63)ctC>ctT	p.L21L	PDIA3_ENST00000538521.1_5'UTR|PDIA3_ENST00000469684.1_3'UTR	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	21					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.L21L(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		CGGCCCGCCTCGCCGCTGCCT	0.706000													3	9					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136681011	136681011	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr6:136681011G>A	ENST00000354570.3	-	15	2269	c.1859C>T	c.(1858-1860)aCc>aTc	p.T620I	MAP7_ENST00000438100.2_Missense_Mutation_p.T605I|MAP7_ENST00000454590.1_Missense_Mutation_p.T642I|MAP7_ENST00000544465.1_Missense_Mutation_p.T605I|MAP7_ENST00000432797.2_Missense_Mutation_p.T474I	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	620					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	p.T620I(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CTGATCACTGGTTTTCTACGA	0.328000													30	109					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49928032	49928032	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr3:49928032G>A	ENST00000296474.3	-	18	3723	c.3696C>T	c.(3694-3696)gaC>gaT	p.D1232D	MST1R_ENST00000344206.4_Silent_p.D1183D	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1232	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	p.D1232D(4)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGTCCAGGATGTCGCGGGCCA	0.557000													8	45					0	0	1	0	0
GPALPP1	55425	broad.mit.edu	37	13	45582975	45582975	+	Silent	SNP	A	A	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr13:45582975A>G	ENST00000361121.2	+	4	404	c.369A>G	c.(367-369)acA>acG	p.T123T	KIAA1704_ENST00000379151.4_Silent_p.T123T|KIAA1704_ENST00000357537.3_5'UTR|RP11-321C24.1_ENST00000437748.2_lincRNA			Q8IXQ4	K1704_HUMAN		123								p.T123T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		TTAAATCTACACAGAAAAGTG	0.358000													12	56					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29819539	29819539	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr10:29819539G>A	ENST00000375398.2	-	13	2552	c.2103C>T	c.(2101-2103)ttC>ttT	p.F701F	SVIL_ENST00000355867.4_Silent_p.F701F|SVIL_ENST00000375400.3_Silent_p.F307F			O95425	SVIL_HUMAN	supervillin	701					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	p.F701F(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)				AGCTTACCCTGAAAAGCAACC	0.483000													103	350					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115222965	115222965	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:115222965C>T	ENST00000369538.3	-	5	816	c.769G>A	c.(769-771)Gag>Aag	p.E257K	AMPD1_ENST00000520113.2_Missense_Mutation_p.E261K|AMPD1_ENST00000353928.6_Missense_Mutation_p.E228K	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	228					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.E228K(1)|p.E261K(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GGCTTAGGCTCATCTTTGCTG	0.423000													27	290					0	0	1	0	0
LOC284009	284009	broad.mit.edu	37	17	2318695	2318695	+	RNA	SNP	G	G	A	rs4790335	by1000genomes	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr17:2318695G>A	ENST00000571332.1	-	0	684					NR_028335.1																						AGCAACACACGACATGCATGG	0.463000													8	103					0	0	1	0	0
ATF2	1386	broad.mit.edu	37	2	175982723	175982723	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr2:175982723C>T	ENST00000264110.2	-	7	740	c.442G>A	c.(442-444)Gag>Aag	p.E148K	ATF2_ENST00000409499.1_Intron|ATF2_ENST00000345739.5_Missense_Mutation_p.E90K|ATF2_ENST00000409437.1_Missense_Mutation_p.E130K|ATF2_ENST00000538946.1_Missense_Mutation_p.E130K|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000392544.1_Missense_Mutation_p.E148K|ATF2_ENST00000487334.2_Missense_Mutation_p.E130K|ATF2_ENST00000426833.3_Missense_Mutation_p.E130K|ATF2_ENST00000409635.1_Missense_Mutation_p.E90K|ATF2_ENST00000409833.1_Missense_Mutation_p.E148K	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	148					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	p.E148K(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			CTAACCTTCTCATCACTGGTA	0.353000													39	129					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61655283	61655283	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr8:61655283C>G	ENST00000423902.2	+	2	1771	c.1292C>G	c.(1291-1293)cCc>cGc	p.P431R	CHD7_ENST00000525508.1_Missense_Mutation_p.P431R|CHD7_ENST00000524602.1_Missense_Mutation_p.P431R	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	431	Pro-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.P431R(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCAAATATGCCCCATCCTCAG	0.537000													11	301					0	0	1	0	0
SNHG7	84973	broad.mit.edu	37	9	139621120	139621120	+	RNA	SNP	A	A	G	rs10781513	by1000genomes	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr9:139621120A>G	ENST00000414282.1	-	0	345				SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000447221.1_RNA																							CCAGCGCGAGAGTTAGAAAGC	0.537000											OREG0019621	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	3					0	0	1	0	0
TRAV29DV5	28653	broad.mit.edu	37	14	22631217	22631217	+	RNA	SNP	C	C	T	rs2075492	by1000genomes	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr14:22631217C>T	ENST00000390458.3	+	0	84																											AGGCAGGAGACAAGACAATCT	0.493000											OREG0022575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	117					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109817864	109817864	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr4:109817864C>T	ENST00000399132.1	-	16	1395	c.865G>A	c.(865-867)Gac>Aac	p.D289N	COL25A1_ENST00000399126.1_Missense_Mutation_p.D289N|COL25A1_ENST00000399127.1_Missense_Mutation_p.D285N	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	289	Collagen-like 3.					collagen|extracellular space	beta-amyloid binding|heparin binding	p.D289N(7)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TCTCCAGCGTCTCCCTGAGGA	0.393000													69	246					0	0	1	0	0
TMEM107	84314	broad.mit.edu	37	17	8079029	8079029	+	Nonsense_Mutation	SNP	G	G	C	rs8064449	by1000genomes	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr17:8079029G>C	ENST00000532998.1	-	3	388	c.302C>G	c.(301-303)tCa>tGa	p.S101*	TMEM107_ENST00000316425.5_Intron|TMEM107_ENST00000533070.1_Intron|TMEM107_ENST00000449985.2_Intron|TMEM107_ENST00000437139.2_Intron|TMEM107_ENST00000431792.2_Intron			Q6UX40	TM107_HUMAN	transmembrane protein 107	0						integral to membrane				large_intestine(1)|lung(4)|ovary(1)	6						AGGGAGTCCTGATAGAAGTGG	0.512000													4	90					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73047023	73047023	+	RNA	SNP	C	C	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chrX:73047023C>G	ENST00000604411.1	+	0	34984				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GATCATCTCACATGGCAGCCT	0.527000													72	350					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20370667	20370667	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr16:20370667T>C	ENST00000302451.4	-	12	1977	c.1729A>G	c.(1729-1731)Aaa>Gaa	p.K577E		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	577					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.K577E(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ACTTTTGGTTTCTTCTTTTGC	0.448000													45	433					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126747837	126747837	+	Splice_Site	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr3:126747837G>A	ENST00000251772.4	+	25	4671	c.4600_splice	c.e25-1	p.E1534_splice	PLXNA1_ENST00000393409.2_Splice_Site_p.E1557_splice			Q9UIW2	PLXA1_HUMAN	plexin A1	1557					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.E1534E(2)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTCCCCCAGAGTGGCGCCAGG	0.647000													7	14					0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165962566	165962566	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr4:165962566G>A	ENST00000512596.1	+	3	1558	c.1342G>A	c.(1342-1344)Gtt>Att	p.V448I	TRIM60_ENST00000508504.1_Missense_Mutation_p.V448I|TRIM60_ENST00000341062.5_Missense_Mutation_p.V448I	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	448	B30.2/SPRY.					intracellular	zinc ion binding	p.V448I(2)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		CACAGAAGCCGTTTGGCCTTA	0.348000													4	24					0	0	0.150653	0	0
MSL3	10943	broad.mit.edu	37	X	11783605	11783605	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chrX:11783605C>T	ENST00000337339.2	+	9	955	c.928C>T	c.(928-930)Ccc>Tcc	p.P310S	MSL3_ENST00000398527.2_Missense_Mutation_p.P298S|MSL3_ENST00000312196.4_Missense_Mutation_p.P310S|MSL3_ENST00000380693.3_Missense_Mutation_p.P144S|MSL3_ENST00000361672.2_Missense_Mutation_p.P161S	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	310					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						GGAACTCTCTCCCAGTCCGCC	0.557000													4	119					0	0	0.184627	0	0
MAP7	9053	broad.mit.edu	37	6	136681011	136681011	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr6:136681011G>A	ENST00000354570.3	-	15	2269	c.1859C>T	c.(1858-1860)aCc>aTc	p.T620I	MAP7_ENST00000438100.2_Missense_Mutation_p.T605I|MAP7_ENST00000454590.1_Missense_Mutation_p.T642I|MAP7_ENST00000432797.2_Missense_Mutation_p.T474I|MAP7_ENST00000544465.1_Missense_Mutation_p.T605I	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	620					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	p.T620I(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CTGATCACTGGTTTTCTACGA	0.328000													14	60					0	0	0.146539	0	0
C11orf63	79864	broad.mit.edu	37	11	122774779	122774779	+	Missense_Mutation	SNP	A	A	G	rs147035469	byFrequency	TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr11:122774779A>G	ENST00000227349.2	+	3	788	c.491A>G	c.(490-492)tAc>tGc	p.Y164C	C11orf63_ENST00000531316.1_Missense_Mutation_p.Y164C|C11orf63_ENST00000307257.6_Missense_Mutation_p.Y164C	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	164								p.Y164C(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GCTCCCCTCTACCCTTCCCAG	0.517000													15	61					0	0	0.119110	0	0
MSN	4478	broad.mit.edu	37	X	64959737	64959737	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chrX:64959737C>T	ENST00000360270.5	+	13	1888	c.1716C>T	c.(1714-1716)gaC>gaT	p.D572D	MSN_ENST00000486030.1_3'UTR	NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	572					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	p.D572D(1)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						AGCGCATTGACGAATTTGAGT	0.532000			T	ALK	ALCL								7	82					0	0	0.047766	0	0
BRSK2	9024	broad.mit.edu	37	11	1432844	1432844	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr11:1432844C>A	ENST00000382179.1	+	1	463	c.210C>A	c.(208-210)tgC>tgA	p.C70*	BRSK2_ENST00000528710.1_Intron|BRSK2_ENST00000526678.1_Intron|BRSK2_ENST00000531197.1_Intron|BRSK2_ENST00000308230.5_Intron|BRSK2_ENST00000528841.1_Intron|BRSK2_ENST00000308219.9_Intron	NM_001256630.1	NP_001243559.1	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	30	Protein kinase.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CCTGGCTCTGCCTGCAGCCCA	0.697000													3	7					0.115264	0.116959	0.115264	1	0
TNFRSF10B	8795	broad.mit.edu	37	8	22926500	22926500	+	Translation_Start_Site	SNP	G	G	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr8:22926500G>C	ENST00000276431.4	-	0	192				TNFRSF10B_ENST00000347739.3_De_novo_Start_OutOfFrame|TNFRSF10B_ENST00000542226.1_De_novo_Start_OutOfFrame|RP11-875O11.2_ENST00000501897.1_RNA	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b						activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TGGGCGCAGAGATTGCGGGGT	0.597000													6	25					0	0	0.217242	0	0
CSF1	1435	broad.mit.edu	37	1	110465931	110465931	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:110465931G>A	ENST00000329608.6	+	6	1079	c.688G>A	c.(688-690)Gag>Aag	p.E230K	CSF1_ENST00000369801.1_Missense_Mutation_p.E230K|CSF1_ENST00000369802.3_Missense_Mutation_p.E230K|CSF1_ENST00000344188.5_Missense_Mutation_p.E230K|CSF1_ENST00000420111.2_Intron	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	230					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity	p.E230K(2)		breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGAGGGAACTGAGGGCAGCTC	0.662000											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	49					0	0	0.093190	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125671706	125671706	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr2:125671706C>T	ENST00000431078.1	+	24	4126	c.3762C>T	c.(3760-3762)atC>atT	p.I1254I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1254					cell adhesion|signal transduction	integral to membrane	receptor binding	p.I1254I(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCTTCTGTATCATCGGCATCA	0.473000													5	41					0	0	0.248553	0	0
MST1R	4486	broad.mit.edu	37	3	49928032	49928032	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr3:49928032G>A	ENST00000296474.3	-	18	3723	c.3696C>T	c.(3694-3696)gaC>gaT	p.D1232D	MST1R_ENST00000344206.4_Silent_p.D1183D	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1232	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	p.D1232D(4)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGTCCAGGATGTCGCGGGCCA	0.557000													6	24					0	0	0.217242	0	0
SVIL	6840	broad.mit.edu	37	10	29819539	29819539	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr10:29819539G>A	ENST00000375398.2	-	13	2552	c.2103C>T	c.(2101-2103)ttC>ttT	p.F701F	SVIL_ENST00000375400.3_Silent_p.F307F|SVIL_ENST00000355867.4_Silent_p.F701F			O95425	SVIL_HUMAN	supervillin	701					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	p.F701F(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)				AGCTTACCCTGAAAAGCAACC	0.483000													16	73					0	0	0.160694	0	0
MXRA5	25878	broad.mit.edu	37	X	3241386	3241386	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chrX:3241386C>T	ENST00000217939.6	-	5	2494	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	780						extracellular region		p.P780P(4)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCCAGCGCTCCGGATTAATCT	0.453000													14	55					0	0	0.119110	0	0
MT-ND1	4535	broad.mit.edu	37	MT	3526	3526	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chrM:3526G>A	ENST00000361390.2	+	1	220	c.220G>A	c.(220-222)Gcc>Acc	p.74_74insT						mitochondrially encoded NADH dehydrogenase 1											breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34						TCTACATCACCGCCCCGACCT	0.542000													5	1					0	0	0.217242	0	0
BROX	148362	broad.mit.edu	37	1	222900585	222900585	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:222900585T>C	ENST00000340934.5	+	8	1062	c.656T>C	c.(655-657)tTc>tCc	p.F219S	BROX_ENST00000537020.1_Missense_Mutation_p.F219S|BROX_ENST00000539697.1_Missense_Mutation_p.F187S	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	219	BRO1.					membrane		p.F219S(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						ACAGCCAATTTCTATCAAAAA	0.343000													10	41					0	0	0.080935	0	0
SOS1	6654	broad.mit.edu	37	2	39278344	39278344	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr2:39278344T>C	ENST00000426016.1	-	7	891	c.805A>G	c.(805-807)Atg>Gtg	p.M269V	SOS1_ENST00000428721.2_Missense_Mutation_p.M212V|SOS1_ENST00000395038.2_Missense_Mutation_p.M269V|SOS1_ENST00000402219.2_Missense_Mutation_p.M269V			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	269	DH.		M -> R (in NS4).|M -> T (in NS4).		apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.M269V(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TCATCTGTCATTTCTACTGTA	0.378000									Noonan syndrome				4	22					0	0	0.150653	0	0
AMPD1	270	broad.mit.edu	37	1	115222965	115222965	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:115222965C>T	ENST00000369538.3	-	5	816	c.769G>A	c.(769-771)Gag>Aag	p.E257K	AMPD1_ENST00000520113.2_Missense_Mutation_p.E261K|AMPD1_ENST00000353928.6_Missense_Mutation_p.E228K	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	228					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.E228K(1)|p.E261K(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GGCTTAGGCTCATCTTTGCTG	0.423000													4	52					0	0	0.150653	0	0
GPN2	54707	broad.mit.edu	37	1	27216290	27216290	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:27216290C>T	ENST00000374135.4	-	1	498	c.298G>A	c.(298-300)Gac>Aac	p.D100N		NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	100							GTP binding	p.D100N(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						CGGAGGGGGTCGAGCTTGGCA	0.667000													16	68					0	0	0.146539	0	0
PTCH2	8643	broad.mit.edu	37	1	45298004	45298004	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:45298004C>A	ENST00000447098.2	-	3	286	c.275G>T	c.(274-276)cGg>cTg	p.R92L	PTCH2_ENST00000372192.3_Missense_Mutation_p.R92L	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	92					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	p.R92P(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CTGGCTCACCCGGCTGCCCAC	0.607000									Basal Cell Nevus syndrome				4	178					0.000602214	0.000629588	0.184627	1	0
KIAA1522	57648	broad.mit.edu	37	1	33237497	33237497	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:33237497C>T	ENST00000401073.2	+	6	2787	c.2717C>T	c.(2716-2718)tCg>tTg	p.S906L	KIAA1522_ENST00000373481.3_Missense_Mutation_p.S858L|KIAA1522_ENST00000373480.1_Missense_Mutation_p.S847L|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	847	Pro-rich.							p.S906L(2)		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)				CTGGGGCCATCGGCCCCCCAG	0.721000													8	15					0	0	0.047766	0	0
PRDM1	639	broad.mit.edu	37	6	106554875	106554875	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr6:106554875C>T	ENST00000369096.4	+	7	2226	c.1992C>T	c.(1990-1992)tgC>tgT	p.C664C	PRDM1_ENST00000369091.2_Silent_p.C628C|PRDM1_ENST00000369089.3_Silent_p.C530C	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	664					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GCAAGGTGTGCCCTGCCAAGT	0.547000			"""D, N, Mis, F, S"""		DLBCL								4	120					0	0	0.150653	0	0
KRT73	319101	broad.mit.edu	37	12	53012246	53012246	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr12:53012246G>A	ENST00000305748.3	-	1	97	c.63C>T	c.(61-63)tcC>tcT	p.S21S		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	21	Gly-rich.|Head.					keratin filament	structural molecule activity	p.S21S(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGAGCACAGCGGAGCAGCCGC	0.642000													26	86					0	0	0.099896	0	0
SPRY4	81848	broad.mit.edu	37	5	141693820	141693820	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr5:141693820G>C	ENST00000344120.4	-	3	1109	c.923C>G	c.(922-924)gCa>gGa	p.A308G	SPRY4_ENST00000434127.2_Missense_Mutation_p.A285G	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	285					multicellular organismal development	cytoplasm|ruffle membrane	protein binding	p.A308G(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGCTGGCTGCTTTGCAGAT	0.627000									Testicular Cancer, Familial Clustering of				8	60					0	0	0.047766	0	0
GPR17	2840	broad.mit.edu	37	2	128409116	128409116	+	Silent	SNP	C	C	T	rs144990681		TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr2:128409116C>T	ENST00000544369.1	+	4	1502	c.891C>T	c.(889-891)tgC>tgT	p.C297C	LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000272644.3_Silent_p.C297C|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409455.1_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000393018.3_Silent_p.C297C|LIMS2_ENST00000355119.4_Intron	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	297						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	p.C297C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		GGGCCTCCTGCGCCACCCAGC	0.622000													9	58					0	0	0.047766	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								4	31					0	0	0.184627	0	0
KCNMB1	3779	broad.mit.edu	37	5	169812334	169812334	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr5:169812334G>T	ENST00000274629.4	-	2	560	c.118C>A	c.(118-120)Ccc>Acc	p.P40T	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron|KCNMB1_ENST00000521859.1_Missense_Mutation_p.P40T	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	40					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity	p.P40T(2)		endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		TGGTAGAGGGGCAGCACAGTC	0.597000													13	107					0.00136819	0.00140904	0.093190	1	0
PLP2	5355	broad.mit.edu	37	X	49029495	49029495	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chrX:49029495T>C	ENST00000376327.5	+	2	191	c.116T>C	c.(115-117)cTg>cCg	p.L39P	PLP2_ENST00000376322.3_Missense_Mutation_p.L39P	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	39	MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity	p.L39P(2)		endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						CTGGTGATCCTGATCTGCTTC	0.493000													6	28					0	0	0.248553	0	0
APBA1	320	broad.mit.edu	37	9	72131361	72131361	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr9:72131361C>T	ENST00000265381.4	-	2	988	c.766G>A	c.(766-768)Gcg>Acg	p.A256T		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	256	Munc-18-1 binding.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		p.A256T(2)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGGTAGGGCGCGAACTCGGCC	0.687000													7	32					0	0	0.278610	0	0
COL25A1	84570	broad.mit.edu	37	4	109817864	109817864	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr4:109817864C>T	ENST00000399132.1	-	16	1395	c.865G>A	c.(865-867)Gac>Aac	p.D289N	COL25A1_ENST00000399127.1_Missense_Mutation_p.D285N|COL25A1_ENST00000399126.1_Missense_Mutation_p.D289N	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	289	Collagen-like 3.					collagen|extracellular space	beta-amyloid binding|heparin binding	p.D289N(7)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TCTCCAGCGTCTCCCTGAGGA	0.393000													8	19					0	0	0.047766	0	0
NRG1	3084	broad.mit.edu	37	8	32621515	32621515	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr8:32621515G>A	ENST00000338921.4	+	13	2059	c.1542G>A	c.(1540-1542)gcG>gcA	p.A514A	NRG1_ENST00000539990.1_Silent_p.A349A|NRG1_ENST00000287842.3_Silent_p.A503A|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000405005.2_Silent_p.A506A|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287845.5_Silent_p.A477A|NRG1_ENST00000287840.5_Silent_p.A506A|NRG1_ENST00000519301.1_Silent_p.A456A|NRG1_ENST00000356819.4_Silent_p.A511A			Q02297	NRG1_HUMAN	neuregulin 1	506					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	p.A511A(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ACAACCCCGCGCATGACAGTA	0.542000													4	32					0	0	0.150653	0	0
DDR2	4921	broad.mit.edu	37	1	162740301	162740301	+	Splice_Site	SNP	A	A	G			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:162740301A>G	ENST00000367922.2	+	13	1941	c.1504_splice	c.e13+1	p.S501_splice	DDR2_ENST00000367921.3_Splice_Site_p.S501_splice	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	501					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.S501S(2)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			AGGAGGAGTCAGGTGAGGATG	0.527000													5	26					0	0	0.184627	0	0
LONP1	9361	broad.mit.edu	37	19	5694505	5694505	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr19:5694505G>A	ENST00000360614.3	-	15	2370	c.2213C>T	c.(2212-2214)aCg>aTg	p.T738M	LONP1_ENST00000590729.1_Missense_Mutation_p.T608M|LONP1_ENST00000540670.2_Missense_Mutation_p.T542M|LONP1_ENST00000593119.1_Missense_Mutation_p.T674M|LONP1_ENST00000585374.1_Missense_Mutation_p.T624M	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	738					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	p.T738M(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTTCTCGGGCGTCACCTCCAC	0.647000													11	75					0	0	0.080935	0	0
F13A1	2162	broad.mit.edu	37	6	6167746	6167746	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr6:6167746T>C	ENST00000264870.3	-	13	2118	c.1853A>G	c.(1852-1854)gAt>gGt	p.D618G		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	618					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.D618G(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGCCAGAACATCCCTGGTCTC	0.537000													10	35					0	0	0.058154	0	0
HSPA5	3309	broad.mit.edu	37	9	128000573	128000573	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr9:128000573G>A	ENST00000324460.6	-	7	1452	c.1249C>T	c.(1249-1251)Ctt>Ttt	p.L417F		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	417					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	p.L417F(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	CATACATCAAGCAGTACCAGG	0.398000										Prostate(1;0.17)			11	32					0	0	0.119110	0	0
PAPOLA	10914	broad.mit.edu	37	14	97022682	97022682	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr14:97022682A>G	ENST00000216277.8	+	19	2156	c.1936A>G	c.(1936-1938)Ata>Gta	p.I646V	PAPOLA_ENST00000392990.2_Missense_Mutation_p.I646V	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	646					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	p.I646V(2)		breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ACCTACTCCTATAGTAGGAGT	0.398000													6	33					0	0	0.217242	0	0
GRM1	2911	broad.mit.edu	37	6	146351336	146351336	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr6:146351336C>T	ENST00000392299.2	+	2	1153	c.683C>T	c.(682-684)tCt>tTt	p.S228F	GRM1_ENST00000282753.1_Missense_Mutation_p.S228F|GRM1_ENST00000507907.1_Missense_Mutation_p.S228F|GRM1_ENST00000492807.2_Missense_Mutation_p.S228F|GRM1_ENST00000361719.2_Missense_Mutation_p.S228F|GRM1_ENST00000355289.4_Missense_Mutation_p.S228F			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	228					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.S228F(4)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ACCTATGTCTCTGCAGTCCAC	0.448000													10	45					0	0	0.069234	0	0
NDUFAF3	25915	broad.mit.edu	37	3	49060156	49060156	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr3:49060156A>G	ENST00000326925.6	+	3	1426	c.292A>G	c.(292-294)Acc>Gcc	p.T98A	NDUFAF3_ENST00000326912.4_Missense_Mutation_p.T41A|NDUFAF3_ENST00000451378.2_Missense_Mutation_p.T41A|NDUFAF3_ENST00000395458.2_Missense_Mutation_p.T41A	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	98					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding	p.T98A(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						CCAGGACATCACCGAAGACAG	0.592000													31	197					0	0	0.163468	0	0
KAT5	10524	broad.mit.edu	37	11	65482336	65482336	+	Silent	SNP	C	C	G			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr11:65482336C>G	ENST00000341318.4	+	8	1218	c.984C>G	c.(982-984)cgC>cgG	p.R328R	KAT5_ENST00000377046.3_Silent_p.R295R|KAT5_ENST00000352980.4_Silent_p.R243R|KAT5_ENST00000530446.1_Silent_p.R276R|KAT5_ENST00000534650.1_Silent_p.R84R	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	295					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	p.R328R(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						AGATTTACCGCAAGGGCACCA	0.522000													25	66					0	0	0.099896	0	0
TSIX	9383	broad.mit.edu	37	X	73047023	73047023	+	RNA	SNP	C	C	G			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chrX:73047023C>G	ENST00000604411.1	+	0	34984				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GATCATCTCACATGGCAGCCT	0.527000													18	86					0	0	0.204396	0	0
WRN	7486	broad.mit.edu	37	8	30945312	30945312	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr8:30945312T>A	ENST00000298139.5	+	12	1701	c.1452T>A	c.(1450-1452)agT>agA	p.S484R		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	484					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	p.S484R(2)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ACCTCAATAGTGGCACGGTAG	0.333000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				4	23					0	0	0.184627	0	0
TANGO6	79613	broad.mit.edu	37	16	68941376	68941376	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr16:68941376G>A	ENST00000261778.1	+	10	1710	c.1698G>A	c.(1696-1698)caG>caA	p.Q566Q		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)									p.Q95Q(2)|p.Q566Q(2)									CCCTGTACCAGAAGGTATCCT	0.473000													8	76					0	0	0.058154	0	0
PDILT	204474	broad.mit.edu	37	16	20370667	20370667	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr16:20370667T>C	ENST00000302451.4	-	12	1977	c.1729A>G	c.(1729-1731)Aaa>Gaa	p.K577E		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	577					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.K577E(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ACTTTTGGTTTCTTCTTTTGC	0.448000													26	164					0	0	0.279207	0	0
NAA15	80155	broad.mit.edu	37	4	140265339	140265339	+	Splice_Site	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr4:140265339G>A	ENST00000296543.5	+	6	860		c.e6-1		NAA15_ENST00000398947.1_Splice_Site|NAA15_ENST00000480277.2_Splice_Site	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit						angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	p.?(2)		NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TCCATATACAGACATCCCCTG	0.333000													4	22					0	0	0.150653	0	0
AQP10	89872	broad.mit.edu	37	1	154296116	154296116	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:154296116C>T	ENST00000484864.1	+	5	577	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000324978.3_Missense_Mutation_p.R181W			Q96PS8	AQP10_HUMAN	aquaporin 10	181					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	p.R181W(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTGGACAGACGGAACAAGGG	0.612000													31	272					0	0	0.144211	0	0
CASP8	841	broad.mit.edu	37	2	202131375	202131375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr2:202131375G>T	ENST00000358485.4	+	2	539	c.343G>T	c.(343-345)Gaa>Taa	p.E115*	CASP8_ENST00000264274.9_Nonsense_Mutation_p.E56*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.E56*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.E56*|CASP8_ENST00000392258.3_Nonsense_Mutation_p.E56*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.E56*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.E56*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.E56*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	56	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.E56*(4)|p.E115*(2)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AATGTTGGAGGAAAGCAATCT	0.453000										HNSCC(4;0.00038)			5	26					0.000602214	0.000629588	0.184627	1	0
OR14A16	284532	broad.mit.edu	37	1	247978972	247978972	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:247978972A>C	ENST00000357627.1	-	1	59	c.60T>G	c.(58-60)aaT>aaG	p.N20K		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N20K(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AAATGCACATATTTTTATTGG	0.383000													8	18					0	0	0.080935	0	0
THSD4	79875	broad.mit.edu	37	15	72020908	72020908	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr15:72020908C>T	ENST00000355327.3	+	9	1512	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C	THSD4_ENST00000261862.6_Missense_Mutation_p.R460C|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.R100C			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	460						proteinaceous extracellular matrix	metalloendopeptidase activity	p.R460C(2)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCGTTCTGGACGCTCCATCAT	0.507000													9	48					0	0	0.069234	0	0
FAM149A	25854	broad.mit.edu	37	4	187084634	187084634	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr4:187084634C>T	ENST00000356371.5	+	10	1763	c.1763C>T	c.(1762-1764)cCg>cTg	p.P588L	FAM149A_ENST00000503432.1_Missense_Mutation_p.P297L|FAM149A_ENST00000227065.4_Missense_Mutation_p.P297L|FAM149A_ENST00000502970.1_Missense_Mutation_p.P297L|FAM149A_ENST00000389354.5_Missense_Mutation_p.P297L|FAM149A_ENST00000514153.1_Missense_Mutation_p.P297L			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	588								p.P297L(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		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;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TCCTCCGCACCGCACAGACTG	0.557000													10	59					0	0	0.080935	0	0
GPR98	84059	broad.mit.edu	37	5	89923108	89923108	+	Silent	SNP	C	C	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr5:89923108C>A	ENST00000405460.2	+	7	849	c.753C>A	c.(751-753)tcC>tcA	p.S251S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	251					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.S251S(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTAGGAATTCCATTGAGATCA	0.343000													3	14					6.4e-05	6.9e-05	0.115264	1	0
PLXNA1	5361	broad.mit.edu	37	3	126747837	126747837	+	Splice_Site	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr3:126747837G>A	ENST00000251772.4	+	25	4671	c.4600_splice	c.e25-1	p.E1534_splice	PLXNA1_ENST00000393409.2_Splice_Site_p.E1557_splice			Q9UIW2	PLXA1_HUMAN	plexin A1	1557					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.E1534E(2)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTCCCCCAGAGTGGCGCCAGG	0.647000													6	27					0	0	0.217242	0	0
CASP8	841	broad.mit.edu	37	2	202137390	202137390	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr2:202137390G>C	ENST00000358485.4	+	4	814	c.618G>C	c.(616-618)gaG>gaC	p.E206D	CASP8_ENST00000264274.9_Missense_Mutation_p.E147D|CASP8_ENST00000264275.5_Missense_Mutation_p.E179D|CASP8_ENST00000432109.2_Missense_Mutation_p.E147D|CASP8_ENST00000392258.3_Missense_Mutation_p.E147D|CASP8_ENST00000392259.2_Missense_Mutation_p.E147D|CASP8_ENST00000323492.7_Missense_Mutation_p.E147D|CASP8_ENST00000392266.3_Missense_Mutation_p.E147D	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	147					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.E179D(4)|p.E206D(2)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TAGAGATGGAGAAGAGGGTCA	0.398000										HNSCC(4;0.00038)			22	70					0	0	0.219247	0	0
ANO7	50636	broad.mit.edu	37	2	242148934	242148934	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr2:242148934G>C	ENST00000274979.8	+	13	1508	c.1405G>C	c.(1405-1407)Gcc>Ccc	p.A469P	ANO7_ENST00000402430.3_Missense_Mutation_p.A468P	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	469						cell junction|chloride channel complex|cytosol	chloride channel activity	p.A469P(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCCCCAGTTTGCCGCCTCAGC	0.711000													4	23					0	0	0.150653	0	0
EFCAB12	90288	broad.mit.edu	37	3	129137132	129137132	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr3:129137132T>G	ENST00000505956.1	-	3	808	c.646A>C	c.(646-648)Atc>Ctc	p.I216L	EFCAB12_ENST00000326085.3_Missense_Mutation_p.I216L	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12									p.I216L(2)									TCCCTGGTGATTCTCTGGTTC	0.547000													7	26					0	0	0.278610	0	0
ZNF407	55628	broad.mit.edu	37	18	72344697	72344697	+	Silent	SNP	A	A	G			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr18:72344697A>G	ENST00000299687.5	+	1	1722	c.1722A>G	c.(1720-1722)gaA>gaG	p.E574E	ZNF407_ENST00000309902.6_Silent_p.E574E|ZNF407_ENST00000582337.1_Silent_p.E574E|ZNF407_ENST00000577538.1_Silent_p.E574E	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	574					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E574E(2)		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)		ACTTAGATGAACATTTGCACA	0.398000													7	112					0	0	0.248553	0	0
PDIA3	2923	broad.mit.edu	37	15	44038800	44038800	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr15:44038800C>T	ENST00000300289.5	+	1	211	c.63C>T	c.(61-63)ctC>ctT	p.L21L	PDIA3_ENST00000469684.1_3'UTR|PDIA3_ENST00000538521.1_5'UTR	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	21					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.L21L(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		CGGCCCGCCTCGCCGCTGCCT	0.706000													12	26					0	0	0.080935	0	0
FOXA1	3169	broad.mit.edu	37	14	38061461	38061461	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr14:38061461G>C	ENST00000250448.2	-	2	589	c.528C>G	c.(526-528)atC>atG	p.I176M	FOXA1_ENST00000540786.1_Missense_Mutation_p.I143M|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	176					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.I176M(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TGATGAGCGAGATGTACGAGT	0.657000													15	72					0	0	0.132662	0	0
AMPD3	272	broad.mit.edu	37	11	10500113	10500113	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr11:10500113C>T	ENST00000396554.3	+	3	630	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	AMPD3_ENST00000444303.2_Intron	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	88					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.L97L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GTCCCTGTCTCTGCAAATGCC	0.547000													11	229					0	0	0.080935	0	0
TRIM60	166655	broad.mit.edu	37	4	165962566	165962566	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr4:165962566G>A	ENST00000512596.1	+	3	1558	c.1342G>A	c.(1342-1344)Gtt>Att	p.V448I	TRIM60_ENST00000341062.5_Missense_Mutation_p.V448I|TRIM60_ENST00000508504.1_Missense_Mutation_p.V448I	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	448	B30.2/SPRY.					intracellular	zinc ion binding	p.V448I(2)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		CACAGAAGCCGTTTGGCCTTA	0.348000													6	40					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113364697	113364697	+	Missense_Mutation	SNP	T	T	C	rs139786530	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr8:113364697T>C	ENST00000297405.5	-	39	6447	c.6203A>G	c.(6202-6204)tAt>tGt	p.Y2068C	CSMD3_ENST00000352409.3_Missense_Mutation_p.Y1998C|CSMD3_ENST00000455883.2_Missense_Mutation_p.Y1964C|CSMD3_ENST00000343508.3_Missense_Mutation_p.Y2028C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2068	Sushi 11.					integral to membrane|plasma membrane		p.Y2028C(1)|p.Y2068C(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCAACCATATATCTGTCTCC	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	102					0	0	1	0	0
RMND5A	64795	broad.mit.edu	37	2	86993022	86993022	+	Silent	SNP	A	A	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr2:86993022A>G	ENST00000283632.4	+	6	1224	c.729A>G	c.(727-729)caA>caG	p.Q243Q	RMND5A_ENST00000472843.1_3'UTR	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	243								p.Q243Q(1)		kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						ACCTGAGACAAGGGATTGAGA	0.453000													5	95					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29614328	29614328	+	Splice_Site	SNP	G	G	A	rs137860963	by1000genomes	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr20:29614328G>A	ENST00000278882.3	+	2	320		c.e2+1		FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATACGTTGGTGAGTCAGTT	0.289000													3	38					0	0	1	0	0
TPTE2P2	644623	broad.mit.edu	37	13	52864001	52864001	+	RNA	SNP	A	A	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr13:52864001A>G	ENST00000451298.1	-	0	168				RP11-64P12.8_ENST00000606031.1_RNA																							GAAAAAATAAAGCAATAGCTA	0.313000													4	41					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241386	3241386	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chrX:3241386C>T	ENST00000217939.6	-	5	2494	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	780						extracellular region		p.P780P(4)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCCAGCGCTCCGGATTAATCT	0.453000													32	169					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34243574	34243574	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr14:34243574G>A	ENST00000346562.2	+	7	862	c.788G>A	c.(787-789)aGa>aAa	p.R263K	NPAS3_ENST00000551492.1_Missense_Mutation_p.R300K|NPAS3_ENST00000356141.4_Missense_Mutation_p.R295K|NPAS3_ENST00000357798.5_Missense_Mutation_p.R282K|NPAS3_ENST00000548645.1_Missense_Mutation_p.R265K	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.R282K(1)|p.R295K(1)|p.R263K(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CTACGCCTGAGAGTGTCGCTG	0.488000													7	188					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29938182	29938182	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chrX:29938182G>A	ENST00000378993.1	+	8	1701	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R343Q	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	343	Ig-like C2-type 3.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.R343Q(2)|p.R343L(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AATGGACGTCGACACGCCAGC	0.438000													20	228					0	0	1	0	0
SPRY4	81848	broad.mit.edu	37	5	141693820	141693820	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr5:141693820G>C	ENST00000344120.4	-	3	1109	c.923C>G	c.(922-924)gCa>gGa	p.A308G	SPRY4_ENST00000434127.2_Missense_Mutation_p.A285G	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	285					multicellular organismal development	cytoplasm|ruffle membrane	protein binding	p.A308G(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGCTGGCTGCTTTGCAGAT	0.627000									Testicular Cancer, Familial Clustering of				15	67					0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162740301	162740301	+	Splice_Site	SNP	A	A	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:162740301A>G	ENST00000367922.2	+	13	1941	c.1504_splice	c.e13+1	p.S501_splice	DDR2_ENST00000367921.3_Splice_Site_p.S501_splice	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	501					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.S501S(2)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			AGGAGGAGTCAGGTGAGGATG	0.527000													13	111					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6167746	6167746	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr6:6167746T>C	ENST00000264870.3	-	13	2118	c.1853A>G	c.(1852-1854)gAt>gGt	p.D618G		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	618					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.D618G(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGCCAGAACATCCCTGGTCTC	0.537000													27	201					0	0	1	0	0
KAT5	10524	broad.mit.edu	37	11	65482336	65482336	+	Silent	SNP	C	C	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr11:65482336C>G	ENST00000341318.4	+	8	1218	c.984C>G	c.(982-984)cgC>cgG	p.R328R	KAT5_ENST00000534650.1_Silent_p.R84R|KAT5_ENST00000352980.4_Silent_p.R243R|KAT5_ENST00000377046.3_Silent_p.R295R|KAT5_ENST00000530446.1_Silent_p.R276R	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	295					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	p.R328R(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						AGATTTACCGCAAGGGCACCA	0.522000													27	144					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53854397	53854397	+	Missense_Mutation	SNP	G	G	C	rs10415799	by1000genomes	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr19:53854397G>C	ENST00000458035.1	+	4	586	c.469G>C	c.(469-471)Gaa>Caa	p.E157Q	ZNF845_ENST00000595091.1_Missense_Mutation_p.E157Q	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E157Q(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAGACCGAAGGGAAAAT	0.408000													10	219					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30945312	30945312	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr8:30945312T>A	ENST00000298139.5	+	12	1701	c.1452T>A	c.(1450-1452)agT>agA	p.S484R		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	484					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	p.S484R(2)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ACCTCAATAGTGGCACGGTAG	0.333000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				47	246					0	0	1	0	0
NAA15	80155	broad.mit.edu	37	4	140265339	140265339	+	Splice_Site	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr4:140265339G>A	ENST00000296543.5	+	6	860		c.e6-1		NAA15_ENST00000480277.2_Splice_Site|NAA15_ENST00000398947.1_Splice_Site	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit						angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	p.?(2)		NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TCCATATACAGACATCCCCTG	0.333000													4	47					0	0	1	0	0
FOXA1	3169	broad.mit.edu	37	14	38061461	38061461	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr14:38061461G>C	ENST00000250448.2	-	2	589	c.528C>G	c.(526-528)atC>atG	p.I176M	FOXA1_ENST00000540786.1_Missense_Mutation_p.I143M|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	176					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.I176M(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TGATGAGCGAGATGTACGAGT	0.657000													21	61					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202131375	202131375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr2:202131375G>T	ENST00000358485.4	+	2	539	c.343G>T	c.(343-345)Gaa>Taa	p.E115*	CASP8_ENST00000432109.2_Nonsense_Mutation_p.E56*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.E56*|CASP8_ENST00000392258.3_Nonsense_Mutation_p.E56*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.E56*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.E56*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.E56*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.E56*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	56	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.E56*(4)|p.E115*(2)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AATGTTGGAGGAAAGCAATCT	0.453000										HNSCC(4;0.00038)			22	111					1.55469e-16	1.65393e-16	1	1	0
C1orf94	84970	broad.mit.edu	37	1	34666634	34666634	+	Splice_Site	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:34666634G>A	ENST00000488417.1	+	3	1390		c.e3+1		C1orf94_ENST00000373374.3_Splice_Site	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94								protein binding	p.?(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GAGCTGAAATGTGAGCTGACC	0.567000													4	15					0	0	1	0	0
ZNF354C	30832	broad.mit.edu	37	5	178503470	178503470	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr5:178503470G>A	ENST00000315475.6	+	3	358	c.52G>A	c.(52-54)Gcc>Acc	p.A18T		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	18	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A18T(1)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		CAGGGATGTGGCCGTGTTCTT	0.552000													17	381					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28671107	28671107	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr18:28671107G>A	ENST00000280904.6	-	4	801	c.358C>T	c.(358-360)Cta>Tta	p.L120L	DSC2_ENST00000251081.6_Silent_p.L120L	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	120					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.L120L(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CTTTTCTTTAGGACCTCAATT	0.378000													11	67					0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681728	55681728	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr11:55681728C>T	ENST00000344514.1	-	1	330	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E111K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGTAGACACTCAGAATCTGCA	0.468000													10	250					0	0	1	0	0
CSF1	1435	broad.mit.edu	37	1	110465931	110465931	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:110465931G>A	ENST00000329608.6	+	6	1079	c.688G>A	c.(688-690)Gag>Aag	p.E230K	CSF1_ENST00000369802.3_Missense_Mutation_p.E230K|CSF1_ENST00000344188.5_Missense_Mutation_p.E230K|CSF1_ENST00000369801.1_Missense_Mutation_p.E230K|CSF1_ENST00000420111.2_Intron	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	230					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity	p.E230K(2)		breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGAGGGAACTGAGGGCAGCTC	0.662000											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	54					0	0	1	0	0
KRTAP9-8	83901	broad.mit.edu	37	17	39394482	39394482	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr17:39394482T>C	ENST00000254072.6	+	1	186	c.179T>C	c.(178-180)aTc>aCc	p.I60T		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	60	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCCAGCCCATCTGTGTGACC	0.637000													8	214					0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60351457	60351457	+	Silent	SNP	G	G	A	rs4968502	by1000genomes	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr17:60351457G>A	ENST00000602932.1	-	2	234	c.204C>T	c.(202-204)cgC>cgT	p.R68R	TBC1D3P2_ENST00000581291.1_RNA																							CCAACTACCCGCGACCTCTAC	0.537000													9	172					0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32893880	32893880	+	RNA	SNP	G	G	A	rs149083075		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr16:32893880G>A	ENST00000330048.5	-	0	1377					NR_003083.2																						GGGGACTGGCGGTCAGCAAGC	0.617000													6	71					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76083029	76083029	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr17:76083029G>A	ENST00000335749.4	+	13	4217	c.3648G>A	c.(3646-3648)ccG>ccA	p.P1216P	TNRC6C_ENST00000588061.1_Silent_p.P1219P|TNRC6C_ENST00000544502.1_Silent_p.P1216P|TNRC6C_ENST00000541771.1_Silent_p.P1219P|TNRC6C_ENST00000588847.1_Silent_p.P1216P|TNRC6C_ENST00000301624.4_Silent_p.P1219P	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1219	Pro-rich.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	p.P1216P(1)|p.P1219P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CACCGCCACCGCCCCCGCCGC	0.667000													2	7					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39895535	39895535	+	Missense_Mutation	SNP	G	G	A	rs148290248	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:39895535G>A	ENST00000564288.1	+	65	17702	c.16925G>A	c.(16924-16926)gGt>gAt	p.G5642D	MACF1_ENST00000317713.7_Missense_Mutation_p.G3580D|MACF1_ENST00000361689.2_Missense_Mutation_p.G3580D|MACF1_ENST00000545844.1_Missense_Mutation_p.G3580D|MACF1_ENST00000289893.4_Missense_Mutation_p.G4082D|MACF1_ENST00000372915.3_Missense_Mutation_p.G5538D|MACF1_ENST00000539005.1_Missense_Mutation_p.G3450D|MACF1_ENST00000567887.1_Missense_Mutation_p.G5679D			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5647					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	p.G4082D(1)|p.G3580D(1)		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)			AAACTAGATGGTATAAAGACT	0.453000													5	147					0	0	1	0	0
TPTE2P2	644623	broad.mit.edu	37	13	52864028	52864028	+	RNA	SNP	C	C	T	rs138483057	by1000genomes	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr13:52864028C>T	ENST00000451298.1	-	0	141				RP11-64P12.8_ENST00000606031.1_RNA																							TAGAATGATACTCCAAAGGAA	0.313000													4	67					0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10500113	10500113	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr11:10500113C>T	ENST00000396554.3	+	3	630	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	AMPD3_ENST00000444303.2_Intron	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	88					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.L97L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GTCCCTGTCTCTGCAAATGCC	0.547000													10	295					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176740237	176740237	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:176740237C>T	ENST00000367662.3	+	17	5800	c.4636C>T	c.(4636-4638)Cac>Tac	p.H1546Y		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1546	Sushi 3.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.H1546Y(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCAGGACAACCACGACGTGGG	0.498000													12	413					0	0	1	0	0
GPN2	54707	broad.mit.edu	37	1	27216290	27216290	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:27216290C>T	ENST00000374135.4	-	1	498	c.298G>A	c.(298-300)Gac>Aac	p.D100N		NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	100							GTP binding	p.D100N(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						CGGAGGGGGTCGAGCTTGGCA	0.667000													7	53					0	0	1	0	0
TANGO6	79613	broad.mit.edu	37	16	68941376	68941376	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr16:68941376G>A	ENST00000261778.1	+	10	1710	c.1698G>A	c.(1696-1698)caG>caA	p.Q566Q		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)									p.Q95Q(2)|p.Q566Q(2)									CCCTGTACCAGAAGGTATCCT	0.473000													30	219					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32621515	32621515	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr8:32621515G>A	ENST00000338921.4	+	13	2059	c.1542G>A	c.(1540-1542)gcG>gcA	p.A514A	NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287840.5_Silent_p.A506A|NRG1_ENST00000405005.2_Silent_p.A506A|NRG1_ENST00000519301.1_Silent_p.A456A|NRG1_ENST00000287845.5_Silent_p.A477A|NRG1_ENST00000287842.3_Silent_p.A503A|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000356819.4_Silent_p.A511A|NRG1_ENST00000539990.1_Silent_p.A349A			Q02297	NRG1_HUMAN	neuregulin 1	506					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	p.A511A(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ACAACCCCGCGCATGACAGTA	0.542000													10	91					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202137390	202137390	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr2:202137390G>C	ENST00000358485.4	+	4	814	c.618G>C	c.(616-618)gaG>gaC	p.E206D	CASP8_ENST00000432109.2_Missense_Mutation_p.E147D|CASP8_ENST00000392259.2_Missense_Mutation_p.E147D|CASP8_ENST00000392258.3_Missense_Mutation_p.E147D|CASP8_ENST00000392266.3_Missense_Mutation_p.E147D|CASP8_ENST00000264274.9_Missense_Mutation_p.E147D|CASP8_ENST00000264275.5_Missense_Mutation_p.E179D|CASP8_ENST00000323492.7_Missense_Mutation_p.E147D	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	147					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.E179D(4)|p.E206D(2)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TAGAGATGGAGAAGAGGGTCA	0.398000										HNSCC(4;0.00038)			53	263					0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72404811	72404811	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr11:72404811A>G	ENST00000359373.5	-	28	4585	c.3734T>C	c.(3733-3735)cTg>cCg	p.L1245P	ARAP1_ENST00000455638.2_Missense_Mutation_p.L1245P|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000334211.8_Missense_Mutation_p.L1000P|ARAP1_ENST00000426523.1_Missense_Mutation_p.L1000P|ARAP1_ENST00000393605.3_Missense_Mutation_p.L1005P|ARAP1_ENST00000393609.3_Missense_Mutation_p.L1245P|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000429686.1_Missense_Mutation_p.L939P			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1245	Ras-associating.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	p.L1005P(1)|p.L1245P(1)		cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CAGCCCGTGCAGGATGGGCAG	0.652000													9	31					0	0	1	0	0
TMEM106B	54664	broad.mit.edu	37	7	12263990	12263990	+	Silent	SNP	T	T	G	rs140753733	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr7:12263990T>G	ENST00000396667.2	+	5	742	c.420T>G	c.(418-420)cgT>cgG	p.R140R	TMEM106B_ENST00000396668.3_Silent_p.R140R	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	140						integral to membrane		p.R140R(8)		NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		TTCAGAAGCGTACAATTTATT	0.343000													23	273					0	0	1	0	0
PAPOLA	10914	broad.mit.edu	37	14	97022682	97022682	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr14:97022682A>G	ENST00000216277.8	+	19	2156	c.1936A>G	c.(1936-1938)Ata>Gta	p.I646V	PAPOLA_ENST00000392990.2_Missense_Mutation_p.I646V	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	646					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	p.I646V(2)		breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ACCTACTCCTATAGTAGGAGT	0.398000													60	246					0	0	1	0	0
FAM149A	25854	broad.mit.edu	37	4	187084634	187084634	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr4:187084634C>T	ENST00000356371.5	+	10	1763	c.1763C>T	c.(1762-1764)cCg>cTg	p.P588L	FAM149A_ENST00000389354.5_Missense_Mutation_p.P297L|FAM149A_ENST00000227065.4_Missense_Mutation_p.P297L|FAM149A_ENST00000514153.1_Missense_Mutation_p.P297L|FAM149A_ENST00000503432.1_Missense_Mutation_p.P297L|FAM149A_ENST00000502970.1_Missense_Mutation_p.P297L			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	588								p.P297L(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		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;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TCCTCCGCACCGCACAGACTG	0.557000													43	172					0	0	1	0	0
EFCAB12	90288	broad.mit.edu	37	3	129137132	129137132	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr3:129137132T>G	ENST00000505956.1	-	3	808	c.646A>C	c.(646-648)Atc>Ctc	p.I216L	EFCAB12_ENST00000326085.3_Missense_Mutation_p.I216L	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12									p.I216L(2)									TCCCTGGTGATTCTCTGGTTC	0.547000													11	123					0	0	1	0	0
PFKL	5211	broad.mit.edu	37	21	45738376	45738376	+	Silent	SNP	G	G	A	rs142092923		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr21:45738376G>A	ENST00000403390.1	+	11	1101	c.1101G>A	c.(1099-1101)gcG>gcA	p.A367A	PFKL_ENST00000349048.4_Silent_p.A320A			P17858	K6PL_HUMAN	phosphofructokinase, liver	320					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	p.A367A(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GCATGGAGGCGGTGATGGCGC	0.642000													2	4					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20370667	20370667	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr16:20370667T>C	ENST00000302451.4	-	12	1977	c.1729A>G	c.(1729-1731)Aaa>Gaa	p.K577E		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	577					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.K577E(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ACTTTTGGTTTCTTCTTTTGC	0.448000													45	433					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115393903	115393903	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr10:115393903G>C	ENST00000369358.4	-	15	1739	c.1495C>G	c.(1495-1497)Caa>Gaa	p.Q499E	NRAP_ENST00000359988.3_Missense_Mutation_p.Q499E|NRAP_ENST00000360478.3_Missense_Mutation_p.Q464E|NRAP_ENST00000369360.3_Missense_Mutation_p.Q464E			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	499						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.Q499E(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATTTTGGCTTGAACAATCTGT	0.473000													16	626					0	0	1	0	0
MSN	4478	broad.mit.edu	37	X	64959737	64959737	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chrX:64959737C>T	ENST00000360270.5	+	13	1888	c.1716C>T	c.(1714-1716)gaC>gaT	p.D572D	MSN_ENST00000486030.1_3'UTR	NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	572					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	p.D572D(1)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						AGCGCATTGACGAATTTGAGT	0.532000			T	ALK	ALCL								64	980					0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1238077	1238077	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr5:1238077A>C	ENST00000324642.3	+	5	757	c.634A>C	c.(634-636)Aca>Cca	p.T212P	SLC6A18_ENST00000296821.4_Missense_Mutation_p.T212P	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	212					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GATTTACTTCACAGCTTTGTT	0.512000													7	34					0	0	1	0	0
PLP2	5355	broad.mit.edu	37	X	49029495	49029495	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chrX:49029495T>C	ENST00000376327.5	+	2	191	c.116T>C	c.(115-117)cTg>cCg	p.L39P	PLP2_ENST00000376322.3_Missense_Mutation_p.L39P	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	39	MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity	p.L39P(2)		endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						CTGGTGATCCTGATCTGCTTC	0.493000													12	88					0	0	1	0	0
HSPA5	3309	broad.mit.edu	37	9	128000573	128000573	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr9:128000573G>A	ENST00000324460.6	-	7	1452	c.1249C>T	c.(1249-1251)Ctt>Ttt	p.L417F		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	417					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	p.L417F(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	CATACATCAAGCAGTACCAGG	0.398000										Prostate(1;0.17)			21	102					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229779279	229779279	+	Splice_Site	SNP	G	G	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:229779279G>T	ENST00000258243.2	+	5	3770		c.e5-1			NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							nucleolus		p.?(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TTCCCACACAGATCCTGAAAT	0.458000													6	108					1.06961e-07	1.10269e-07	1	1	0
BROX	148362	broad.mit.edu	37	1	222900585	222900585	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:222900585T>C	ENST00000340934.5	+	8	1062	c.656T>C	c.(655-657)tTc>tCc	p.F219S	BROX_ENST00000539697.1_Missense_Mutation_p.F187S|BROX_ENST00000537020.1_Missense_Mutation_p.F219S	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	219	BRO1.					membrane		p.F219S(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						ACAGCCAATTTCTATCAAAAA	0.343000													26	119					0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51487353	51487353	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chrX:51487353C>T	ENST00000340438.4	+	1	873	c.631C>T	c.(631-633)Cat>Tat	p.H211Y		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	211					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding	p.H211Y(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					ATTCATTGGCCATGTAGACGC	0.403000													5	72					0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064470	78064470	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr16:78064470A>G	ENST00000299642.4	+	3	438	c.353A>G	c.(352-354)gAc>gGc	p.D118G	RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_Missense_Mutation_p.D109G|CLEC3A_ENST00000565808.1_3'UTR	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	109	C-type lectin.				skeletal system development	extracellular region	sugar binding	p.D109G(2)		NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						AGGAACTCCGACGAAATCAAC	0.473000													25	178					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101073106	101073106	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr6:101073106C>T	ENST00000369162.2	-	30	5091	c.4747G>A	c.(4747-4749)Gaa>Aaa	p.E1583K		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1583	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.E1583K(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TTTGGATCTTCTTCAGTAGCC	0.378000													6	117					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125671706	125671706	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr2:125671706C>T	ENST00000431078.1	+	24	4126	c.3762C>T	c.(3760-3762)atC>atT	p.I1254I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1254					cell adhesion|signal transduction	integral to membrane	receptor binding	p.I1254I(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCTTCTGTATCATCGGCATCA	0.473000													46	626					0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53012246	53012246	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr12:53012246G>A	ENST00000305748.3	-	1	97	c.63C>T	c.(61-63)tcC>tcT	p.S21S		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	21	Gly-rich.|Head.					keratin filament	structural molecule activity	p.S21S(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGAGCACAGCGGAGCAGCCGC	0.642000													10	22					0	0	1	0	0
KCNMB1	3779	broad.mit.edu	37	5	169812334	169812334	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr5:169812334G>T	ENST00000274629.4	-	2	560	c.118C>A	c.(118-120)Ccc>Acc	p.P40T	KCNIP1_ENST00000377360.4_Intron|KCNMB1_ENST00000521859.1_Missense_Mutation_p.P40T|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	40					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity	p.P40T(2)		endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		TGGTAGAGGGGCAGCACAGTC	0.597000													19	117					2.21704e-12	2.33372e-12	1	1	0
SCN7A	6332	broad.mit.edu	37	2	167301341	167301341	+	Silent	SNP	T	T	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr2:167301341T>C	ENST00000409855.1	-	12	1683	c.1557A>G	c.(1555-1557)gtA>gtG	p.V519V		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	519					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V519V(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TCAGAAAACATACGTTTAAAA	0.323000													12	39					0	0	1	0	0
FAM46D	169966	broad.mit.edu	37	X	79698599	79698599	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chrX:79698599C>A	ENST00000538312.1	+	5	895	c.561C>A	c.(559-561)taC>taA	p.Y187*	FAM46D_ENST00000308293.5_Nonsense_Mutation_p.Y187*	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	187								p.Y187*(1)		kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TAGACTTCTACAGTGACAAAA	0.383000													16	140					5.3912e-06	5.44566e-06	1	1	0
NDUFAF3	25915	broad.mit.edu	37	3	49060156	49060156	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr3:49060156A>G	ENST00000326925.6	+	3	1426	c.292A>G	c.(292-294)Acc>Gcc	p.T98A	NDUFAF3_ENST00000451378.2_Missense_Mutation_p.T41A|NDUFAF3_ENST00000326912.4_Missense_Mutation_p.T41A|NDUFAF3_ENST00000395458.2_Missense_Mutation_p.T41A	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	98					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding	p.T98A(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						CCAGGACATCACCGAAGACAG	0.592000													20	123					0	0	1	0	0
C14orf177	283598	broad.mit.edu	37	14	99183502	99183502	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr14:99183502G>T	ENST00000325812.2	+	4	688	c.269G>T	c.(268-270)gGg>gTg	p.G90V		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	90								p.G90V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				ACTTCTCCAGGGTCATGTAAT	0.433000													14	256					1.75922e-31	1.89163e-31	1	1	0
NGLY1	55768	broad.mit.edu	37	3	25824758	25824758	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr3:25824758T>C	ENST00000428257.1	-	1	231	c.124A>G	c.(124-126)Atc>Gtc	p.I42V	NGLY1_ENST00000417874.2_Intron|NGLY1_ENST00000396649.3_Missense_Mutation_p.I42V|NGLY1_ENST00000280700.5_Missense_Mutation_p.I42V	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	42	PUB.				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	p.I42V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CACCTGAGGATGTTGTCAGCA	0.682000													6	14					0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978972	247978972	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:247978972A>C	ENST00000357627.1	-	1	59	c.60T>G	c.(58-60)aaT>aaG	p.N20K		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N20K(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AAATGCACATATTTTTATTGG	0.383000													40	127					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89923108	89923108	+	Silent	SNP	C	C	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr5:89923108C>A	ENST00000405460.2	+	7	849	c.753C>A	c.(751-753)tcC>tcA	p.S251S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	251					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.S251S(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTAGGAATTCCATTGAGATCA	0.343000													9	75					3.09899e-07	3.16223e-07	1	1	0
SOS1	6654	broad.mit.edu	37	2	39278344	39278344	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr2:39278344T>C	ENST00000426016.1	-	7	891	c.805A>G	c.(805-807)Atg>Gtg	p.M269V	SOS1_ENST00000395038.2_Missense_Mutation_p.M269V|SOS1_ENST00000428721.2_Missense_Mutation_p.M212V|SOS1_ENST00000402219.2_Missense_Mutation_p.M269V			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	269	DH.		M -> R (in NS4).|M -> T (in NS4).		apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.M269V(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TCATCTGTCATTTCTACTGTA	0.378000									Noonan syndrome				37	115					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72020908	72020908	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr15:72020908C>T	ENST00000355327.3	+	9	1512	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C	THSD4_ENST00000357769.4_Missense_Mutation_p.R100C|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.R460C			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	460						proteinaceous extracellular matrix	metalloendopeptidase activity	p.R460C(2)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCGTTCTGGACGCTCCATCAT	0.507000													120	431					0	0	1	0	0
RNASE4	6038	broad.mit.edu	37	14	21167803	21167803	+	Silent	SNP	A	A	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr14:21167803A>G	ENST00000555835.1	+	2	949	c.273A>G	c.(271-273)caA>caG	p.Q91Q	AL163636.6_ENST00000553909.1_RNA|RNASE4_ENST00000397995.2_Silent_p.Q91Q|RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000555597.1_Silent_p.Q91Q|RNASE4_ENST00000304704.4_Silent_p.Q91Q	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	91					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.Q91Q(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		CCAATATCCAATGCAAGAACG	0.483000													38	800					0	0	1	0	0
PDIA3	2923	broad.mit.edu	37	15	44038800	44038800	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr15:44038800C>T	ENST00000300289.5	+	1	211	c.63C>T	c.(61-63)ctC>ctT	p.L21L	PDIA3_ENST00000538521.1_5'UTR|PDIA3_ENST00000469684.1_3'UTR	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	21					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.L21L(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		CGGCCCGCCTCGCCGCTGCCT	0.706000													3	9					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136681011	136681011	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr6:136681011G>A	ENST00000354570.3	-	15	2269	c.1859C>T	c.(1858-1860)aCc>aTc	p.T620I	MAP7_ENST00000544465.1_Missense_Mutation_p.T605I|MAP7_ENST00000438100.2_Missense_Mutation_p.T605I|MAP7_ENST00000454590.1_Missense_Mutation_p.T642I|MAP7_ENST00000432797.2_Missense_Mutation_p.T474I	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	620					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	p.T620I(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CTGATCACTGGTTTTCTACGA	0.328000													30	109					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49928032	49928032	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr3:49928032G>A	ENST00000296474.3	-	18	3723	c.3696C>T	c.(3694-3696)gaC>gaT	p.D1232D	MST1R_ENST00000344206.4_Silent_p.D1183D	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1232	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	p.D1232D(4)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGTCCAGGATGTCGCGGGCCA	0.557000													8	45					0	0	1	0	0
GPALPP1	55425	broad.mit.edu	37	13	45582975	45582975	+	Silent	SNP	A	A	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr13:45582975A>G	ENST00000361121.2	+	4	404	c.369A>G	c.(367-369)acA>acG	p.T123T	RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000379151.4_Silent_p.T123T|KIAA1704_ENST00000357537.3_5'UTR			Q8IXQ4	K1704_HUMAN		123								p.T123T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		TTAAATCTACACAGAAAAGTG	0.358000													12	56					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115222965	115222965	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:115222965C>T	ENST00000369538.3	-	5	816	c.769G>A	c.(769-771)Gag>Aag	p.E257K	AMPD1_ENST00000520113.2_Missense_Mutation_p.E261K|AMPD1_ENST00000353928.6_Missense_Mutation_p.E228K	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	228					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.E228K(1)|p.E261K(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GGCTTAGGCTCATCTTTGCTG	0.423000													27	290					0	0	1	0	0
LOC284009	284009	broad.mit.edu	37	17	2318695	2318695	+	RNA	SNP	G	G	A	rs4790335	by1000genomes	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr17:2318695G>A	ENST00000571332.1	-	0	684					NR_028335.1																						AGCAACACACGACATGCATGG	0.463000													8	103					0	0	1	0	0
ATF2	1386	broad.mit.edu	37	2	175982723	175982723	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr2:175982723C>T	ENST00000264110.2	-	7	740	c.442G>A	c.(442-444)Gag>Aag	p.E148K	ATF2_ENST00000409635.1_Missense_Mutation_p.E90K|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000409833.1_Missense_Mutation_p.E148K|ATF2_ENST00000392544.1_Missense_Mutation_p.E148K|ATF2_ENST00000409437.1_Missense_Mutation_p.E130K|ATF2_ENST00000538946.1_Missense_Mutation_p.E130K|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000345739.5_Missense_Mutation_p.E90K|ATF2_ENST00000426833.3_Missense_Mutation_p.E130K|ATF2_ENST00000487334.2_Missense_Mutation_p.E130K	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	148					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	p.E148K(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			CTAACCTTCTCATCACTGGTA	0.353000													39	129					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61655283	61655283	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr8:61655283C>G	ENST00000423902.2	+	2	1771	c.1292C>G	c.(1291-1293)cCc>cGc	p.P431R	CHD7_ENST00000525508.1_Missense_Mutation_p.P431R|CHD7_ENST00000524602.1_Missense_Mutation_p.P431R	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	431	Pro-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.P431R(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCAAATATGCCCCATCCTCAG	0.537000													11	301					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72131361	72131361	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr9:72131361C>T	ENST00000265381.4	-	2	988	c.766G>A	c.(766-768)Gcg>Acg	p.A256T		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	256	Munc-18-1 binding.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		p.A256T(2)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGGTAGGGCGCGAACTCGGCC	0.687000													6	17					0	0	1	0	0
TRAV29DV5	28653	broad.mit.edu	37	14	22631217	22631217	+	RNA	SNP	C	C	T	rs2075492	by1000genomes	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr14:22631217C>T	ENST00000390458.3	+	0	84																											AGGCAGGAGACAAGACAATCT	0.493000											OREG0022575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	117					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109817864	109817864	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr4:109817864C>T	ENST00000399132.1	-	16	1395	c.865G>A	c.(865-867)Gac>Aac	p.D289N	COL25A1_ENST00000399126.1_Missense_Mutation_p.D289N|COL25A1_ENST00000399127.1_Missense_Mutation_p.D285N	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	289	Collagen-like 3.					collagen|extracellular space	beta-amyloid binding|heparin binding	p.D289N(7)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TCTCCAGCGTCTCCCTGAGGA	0.393000													69	246					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000													3	19					0	0	1	0	0
TMEM107	84314	broad.mit.edu	37	17	8079029	8079029	+	Nonsense_Mutation	SNP	G	G	C	rs8064449	by1000genomes	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr17:8079029G>C	ENST00000532998.1	-	3	388	c.302C>G	c.(301-303)tCa>tGa	p.S101*	TMEM107_ENST00000431792.2_Intron|TMEM107_ENST00000316425.5_Intron|TMEM107_ENST00000533070.1_Intron|TMEM107_ENST00000449985.2_Intron|TMEM107_ENST00000437139.2_Intron			Q6UX40	TM107_HUMAN	transmembrane protein 107	0						integral to membrane				large_intestine(1)|lung(4)|ovary(1)	6						AGGGAGTCCTGATAGAAGTGG	0.512000													4	90					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73047023	73047023	+	RNA	SNP	C	C	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chrX:73047023C>G	ENST00000604411.1	+	0	34984				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GATCATCTCACATGGCAGCCT	0.527000													72	350					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746185	77746185	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr2:77746185C>T	ENST00000409088.3	-	3	1224	c.810G>A	c.(808-810)ccG>ccA	p.P270P	LRRTM4_ENST00000409093.1_Silent_p.P270P|LRRTM4_ENST00000409911.1_Silent_p.P271P|LRRTM4_ENST00000409282.1_Silent_p.P271P|LRRTM4_ENST00000409884.1_Silent_p.P270P	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	270						integral to membrane		p.P270P(4)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TAAATGTGCCCGGCTCAATTC	0.408000													11	26					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126747837	126747837	+	Splice_Site	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr3:126747837G>A	ENST00000251772.4	+	25	4671	c.4600_splice	c.e25-1	p.E1534_splice	PLXNA1_ENST00000393409.2_Splice_Site_p.E1557_splice			Q9UIW2	PLXA1_HUMAN	plexin A1	1557					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.E1534E(2)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTCCCCCAGAGTGGCGCCAGG	0.647000													7	14					0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165962566	165962566	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr4:165962566G>A	ENST00000512596.1	+	3	1558	c.1342G>A	c.(1342-1344)Gtt>Att	p.V448I	TRIM60_ENST00000341062.5_Missense_Mutation_p.V448I|TRIM60_ENST00000508504.1_Missense_Mutation_p.V448I	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	448	B30.2/SPRY.					intracellular	zinc ion binding	p.V448I(2)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		CACAGAAGCCGTTTGGCCTTA	0.348000													4	24					0	0	1	0	0
MSL3	10943	broad.mit.edu	37	X	11783605	11783605	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chrX:11783605C>T	ENST00000337339.2	+	9	955	c.928C>T	c.(928-930)Ccc>Tcc	p.P310S	MSL3_ENST00000380693.3_Missense_Mutation_p.P144S|MSL3_ENST00000361672.2_Missense_Mutation_p.P161S|MSL3_ENST00000398527.2_Missense_Mutation_p.P298S|MSL3_ENST00000312196.4_Missense_Mutation_p.P310S	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	310					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						GGAACTCTCTCCCAGTCCGCC	0.557000													4	119					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136681011	136681011	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr6:136681011G>A	ENST00000354570.3	-	15	2269	c.1859C>T	c.(1858-1860)aCc>aTc	p.T620I	MAP7_ENST00000544465.1_Missense_Mutation_p.T605I|MAP7_ENST00000438100.2_Missense_Mutation_p.T605I|MAP7_ENST00000454590.1_Missense_Mutation_p.T642I|MAP7_ENST00000432797.2_Missense_Mutation_p.T474I	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	620					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	p.T620I(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CTGATCACTGGTTTTCTACGA	0.328000													14	60					0	0	1	0	0
MSN	4478	broad.mit.edu	37	X	64959737	64959737	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chrX:64959737C>T	ENST00000360270.5	+	13	1888	c.1716C>T	c.(1714-1716)gaC>gaT	p.D572D	MSN_ENST00000486030.1_3'UTR	NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	572					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	p.D572D(1)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						AGCGCATTGACGAATTTGAGT	0.532000			T	ALK	ALCL								7	82					0	0	1	0	0
LONP1	9361	broad.mit.edu	37	19	5694505	5694505	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr19:5694505G>A	ENST00000360614.3	-	15	2370	c.2213C>T	c.(2212-2214)aCg>aTg	p.T738M	LONP1_ENST00000593119.1_Missense_Mutation_p.T674M|LONP1_ENST00000585374.1_Missense_Mutation_p.T624M|LONP1_ENST00000540670.2_Missense_Mutation_p.T542M|LONP1_ENST00000590729.1_Missense_Mutation_p.T608M	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	738					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	p.T738M(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTTCTCGGGCGTCACCTCCAC	0.647000													11	75					0	0	1	0	0
CSF1	1435	broad.mit.edu	37	1	110465931	110465931	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:110465931G>A	ENST00000329608.6	+	6	1079	c.688G>A	c.(688-690)Gag>Aag	p.E230K	CSF1_ENST00000344188.5_Missense_Mutation_p.E230K|CSF1_ENST00000420111.2_Intron|CSF1_ENST00000369801.1_Missense_Mutation_p.E230K|CSF1_ENST00000369802.3_Missense_Mutation_p.E230K	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	230					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity	p.E230K(2)		breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGAGGGAACTGAGGGCAGCTC	0.662000											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	49					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125671706	125671706	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr2:125671706C>T	ENST00000431078.1	+	24	4126	c.3762C>T	c.(3760-3762)atC>atT	p.I1254I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1254					cell adhesion|signal transduction	integral to membrane	receptor binding	p.I1254I(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCTTCTGTATCATCGGCATCA	0.473000													5	41					0	0	1	0	0
NDUFAF3	25915	broad.mit.edu	37	3	49060156	49060156	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr3:49060156A>G	ENST00000326925.6	+	3	1426	c.292A>G	c.(292-294)Acc>Gcc	p.T98A	NDUFAF3_ENST00000395458.2_Missense_Mutation_p.T41A|NDUFAF3_ENST00000326912.4_Missense_Mutation_p.T41A|NDUFAF3_ENST00000451378.2_Missense_Mutation_p.T41A	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	98					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding	p.T98A(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						CCAGGACATCACCGAAGACAG	0.592000													31	197					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49928032	49928032	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr3:49928032G>A	ENST00000296474.3	-	18	3723	c.3696C>T	c.(3694-3696)gaC>gaT	p.D1232D	MST1R_ENST00000344206.4_Silent_p.D1183D	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1232	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	p.D1232D(4)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGTCCAGGATGTCGCGGGCCA	0.557000													6	24					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241386	3241386	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chrX:3241386C>T	ENST00000217939.6	-	5	2494	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	780						extracellular region		p.P780P(4)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCCAGCGCTCCGGATTAATCT	0.453000													14	55					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296599	39296599	+	Silent	SNP	T	T	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr17:39296599T>C	ENST00000345847.4	-	1	140	c.141A>G	c.(139-141)agA>agG	p.R47R		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	47	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCACTGGGGTCTGCAGCAGC	0.682000													5	100					0	0	1	0	0
BROX	148362	broad.mit.edu	37	1	222900585	222900585	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:222900585T>C	ENST00000340934.5	+	8	1062	c.656T>C	c.(655-657)tTc>tCc	p.F219S	BROX_ENST00000537020.1_Missense_Mutation_p.F219S|BROX_ENST00000539697.1_Missense_Mutation_p.F187S	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	219	BRO1.					membrane		p.F219S(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						ACAGCCAATTTCTATCAAAAA	0.343000													10	41					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115222965	115222965	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:115222965C>T	ENST00000369538.3	-	5	816	c.769G>A	c.(769-771)Gag>Aag	p.E257K	AMPD1_ENST00000353928.6_Missense_Mutation_p.E228K|AMPD1_ENST00000520113.2_Missense_Mutation_p.E261K	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	228					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.E228K(1)|p.E261K(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GGCTTAGGCTCATCTTTGCTG	0.423000													4	52					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89923108	89923108	+	Silent	SNP	C	C	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr5:89923108C>A	ENST00000405460.2	+	7	849	c.753C>A	c.(751-753)tcC>tcA	p.S251S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	251					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.S251S(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTAGGAATTCCATTGAGATCA	0.343000													3	14					6.4e-05	6.8129e-05	1	1	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296600	39296600	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr17:39296600C>T	ENST00000345847.4	-	1	139	c.140G>A	c.(139-141)aGa>aAa	p.R47K		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	47	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament		p.R47K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GCACTGGGGTCTGCAGCAGCT	0.682000													4	104					0	0	1	0	0
GPN2	54707	broad.mit.edu	37	1	27216290	27216290	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:27216290C>T	ENST00000374135.4	-	1	498	c.298G>A	c.(298-300)Gac>Aac	p.D100N		NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	100							GTP binding	p.D100N(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						CGGAGGGGGTCGAGCTTGGCA	0.667000													16	68					0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45298004	45298004	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:45298004C>A	ENST00000447098.2	-	3	286	c.275G>T	c.(274-276)cGg>cTg	p.R92L	PTCH2_ENST00000372192.3_Missense_Mutation_p.R92L	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	92					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	p.R92P(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CTGGCTCACCCGGCTGCCCAC	0.607000									Basal Cell Nevus syndrome				4	178					0.000602214	0.000621034	1	1	0
KIAA1522	57648	broad.mit.edu	37	1	33237497	33237497	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:33237497C>T	ENST00000401073.2	+	6	2787	c.2717C>T	c.(2716-2718)tCg>tTg	p.S906L	KIAA1522_ENST00000373480.1_Missense_Mutation_p.S847L|KIAA1522_ENST00000373481.3_Missense_Mutation_p.S858L|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	847	Pro-rich.							p.S906L(2)		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)				CTGGGGCCATCGGCCCCCCAG	0.721000													8	15					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106554875	106554875	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr6:106554875C>T	ENST00000369096.4	+	7	2226	c.1992C>T	c.(1990-1992)tgC>tgT	p.C664C	PRDM1_ENST00000369089.3_Silent_p.C530C|PRDM1_ENST00000369091.2_Silent_p.C628C	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	664					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GCAAGGTGTGCCCTGCCAAGT	0.547000			"""D, N, Mis, F, S"""		DLBCL								4	120					0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53012246	53012246	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr12:53012246G>A	ENST00000305748.3	-	1	97	c.63C>T	c.(61-63)tcC>tcT	p.S21S		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	21	Gly-rich.|Head.					keratin filament	structural molecule activity	p.S21S(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGAGCACAGCGGAGCAGCCGC	0.642000													26	86					0	0	1	0	0
SPRY4	81848	broad.mit.edu	37	5	141693820	141693820	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr5:141693820G>C	ENST00000344120.4	-	3	1109	c.923C>G	c.(922-924)gCa>gGa	p.A308G	SPRY4_ENST00000434127.2_Missense_Mutation_p.A285G	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	285					multicellular organismal development	cytoplasm|ruffle membrane	protein binding	p.A308G(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGCTGGCTGCTTTGCAGAT	0.627000									Testicular Cancer, Familial Clustering of				8	60					0	0	1	0	0
GPR17	2840	broad.mit.edu	37	2	128409116	128409116	+	Silent	SNP	C	C	T	rs144990681		TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr2:128409116C>T	ENST00000544369.1	+	4	1502	c.891C>T	c.(889-891)tgC>tgT	p.C297C	GPR17_ENST00000393018.3_Silent_p.C297C|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000272644.3_Silent_p.C297C|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000409808.2_Intron	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	297						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	p.C297C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		GGGCCTCCTGCGCCACCCAGC	0.622000													9	58					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								4	31					0	0	1	0	0
KCNMB1	3779	broad.mit.edu	37	5	169812334	169812334	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr5:169812334G>T	ENST00000274629.4	-	2	560	c.118C>A	c.(118-120)Ccc>Acc	p.P40T	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron|KCNMB1_ENST00000521859.1_Missense_Mutation_p.P40T	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	40					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity	p.P40T(2)		endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		TGGTAGAGGGGCAGCACAGTC	0.597000													13	107					0.00136819	0.00138924	1	1	0
PLP2	5355	broad.mit.edu	37	X	49029495	49029495	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chrX:49029495T>C	ENST00000376327.5	+	2	191	c.116T>C	c.(115-117)cTg>cCg	p.L39P	PLP2_ENST00000376322.3_Missense_Mutation_p.L39P	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	39	MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity	p.L39P(2)		endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						CTGGTGATCCTGATCTGCTTC	0.493000													6	28					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72131361	72131361	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr9:72131361C>T	ENST00000265381.4	-	2	988	c.766G>A	c.(766-768)Gcg>Acg	p.A256T		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	256	Munc-18-1 binding.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		p.A256T(2)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGGTAGGGCGCGAACTCGGCC	0.687000													7	32					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109817864	109817864	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr4:109817864C>T	ENST00000399132.1	-	16	1395	c.865G>A	c.(865-867)Gac>Aac	p.D289N	COL25A1_ENST00000399127.1_Missense_Mutation_p.D285N|COL25A1_ENST00000399126.1_Missense_Mutation_p.D289N	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	289	Collagen-like 3.					collagen|extracellular space	beta-amyloid binding|heparin binding	p.D289N(7)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TCTCCAGCGTCTCCCTGAGGA	0.393000													8	19					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32621515	32621515	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr8:32621515G>A	ENST00000338921.4	+	13	2059	c.1542G>A	c.(1540-1542)gcG>gcA	p.A514A	NRG1_ENST00000405005.2_Silent_p.A506A|NRG1_ENST00000539990.1_Silent_p.A349A|NRG1_ENST00000356819.4_Silent_p.A511A|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287842.3_Silent_p.A503A|NRG1_ENST00000287840.5_Silent_p.A506A|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000287845.5_Silent_p.A477A|NRG1_ENST00000519301.1_Silent_p.A456A			Q02297	NRG1_HUMAN	neuregulin 1	506					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	p.A511A(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ACAACCCCGCGCATGACAGTA	0.542000													4	32					0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162740301	162740301	+	Splice_Site	SNP	A	A	G			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:162740301A>G	ENST00000367922.2	+	13	1941	c.1504_splice	c.e13+1	p.S501_splice	DDR2_ENST00000367921.3_Splice_Site_p.S501_splice	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	501					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.S501S(2)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			AGGAGGAGTCAGGTGAGGATG	0.527000													5	26					0	0	1	0	0
LENG8	114823	broad.mit.edu	37	19	54967251	54967251	+	Silent	SNP	T	T	G			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr19:54967251T>G	ENST00000326764.5	+	9	1610	c.1131T>G	c.(1129-1131)ggT>ggG	p.G377G	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	340	Ser-rich.						protein binding	p.G377G(2)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GGGGCGGGGGTGCCCCGTCCC	0.687000													9	40					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6167746	6167746	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr6:6167746T>C	ENST00000264870.3	-	13	2118	c.1853A>G	c.(1852-1854)gAt>gGt	p.D618G		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	618					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.D618G(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGCCAGAACATCCCTGGTCTC	0.537000													10	35					0	0	1	0	0
HSPA5	3309	broad.mit.edu	37	9	128000573	128000573	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr9:128000573G>A	ENST00000324460.6	-	7	1452	c.1249C>T	c.(1249-1251)Ctt>Ttt	p.L417F		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	417					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	p.L417F(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	CATACATCAAGCAGTACCAGG	0.398000										Prostate(1;0.17)			11	32					0	0	1	0	0
PAPOLA	10914	broad.mit.edu	37	14	97022682	97022682	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr14:97022682A>G	ENST00000216277.8	+	19	2156	c.1936A>G	c.(1936-1938)Ata>Gta	p.I646V	PAPOLA_ENST00000392990.2_Missense_Mutation_p.I646V	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	646					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	p.I646V(2)		breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ACCTACTCCTATAGTAGGAGT	0.398000													6	33					0	0	1	0	0
KAT5	10524	broad.mit.edu	37	11	65482336	65482336	+	Silent	SNP	C	C	G			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr11:65482336C>G	ENST00000341318.4	+	8	1218	c.984C>G	c.(982-984)cgC>cgG	p.R328R	KAT5_ENST00000377046.3_Silent_p.R295R|KAT5_ENST00000530446.1_Silent_p.R276R|KAT5_ENST00000534650.1_Silent_p.R84R|KAT5_ENST00000352980.4_Silent_p.R243R	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	295					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	p.R328R(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						AGATTTACCGCAAGGGCACCA	0.522000													25	66					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72344697	72344697	+	Silent	SNP	A	A	G			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr18:72344697A>G	ENST00000299687.5	+	1	1722	c.1722A>G	c.(1720-1722)gaA>gaG	p.E574E	ZNF407_ENST00000582337.1_Silent_p.E574E|ZNF407_ENST00000309902.6_Silent_p.E574E|ZNF407_ENST00000577538.1_Silent_p.E574E	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	574					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E574E(2)		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)		ACTTAGATGAACATTTGCACA	0.398000													7	112					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73047023	73047023	+	RNA	SNP	C	C	G			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chrX:73047023C>G	ENST00000604411.1	+	0	34984				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GATCATCTCACATGGCAGCCT	0.527000													18	86					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30945312	30945312	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr8:30945312T>A	ENST00000298139.5	+	12	1701	c.1452T>A	c.(1450-1452)agT>agA	p.S484R		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	484					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	p.S484R(2)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ACCTCAATAGTGGCACGGTAG	0.333000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				4	23					0	0	1	0	0
TANGO6	79613	broad.mit.edu	37	16	68941376	68941376	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr16:68941376G>A	ENST00000261778.1	+	10	1710	c.1698G>A	c.(1696-1698)caG>caA	p.Q566Q		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)									p.Q95Q(2)|p.Q566Q(2)									CCCTGTACCAGAAGGTATCCT	0.473000													8	76					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20370667	20370667	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr16:20370667T>C	ENST00000302451.4	-	12	1977	c.1729A>G	c.(1729-1731)Aaa>Gaa	p.K577E		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	577					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.K577E(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ACTTTTGGTTTCTTCTTTTGC	0.448000													26	164					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746185	77746185	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr2:77746185C>T	ENST00000409088.3	-	3	1224	c.810G>A	c.(808-810)ccG>ccA	p.P270P	LRRTM4_ENST00000409282.1_Silent_p.P271P|LRRTM4_ENST00000409884.1_Silent_p.P270P|LRRTM4_ENST00000409911.1_Silent_p.P271P|LRRTM4_ENST00000409093.1_Silent_p.P270P	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	270						integral to membrane		p.P270P(4)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TAAATGTGCCCGGCTCAATTC	0.408000													2	2					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202131375	202131375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr2:202131375G>T	ENST00000358485.4	+	2	539	c.343G>T	c.(343-345)Gaa>Taa	p.E115*	CASP8_ENST00000264274.9_Nonsense_Mutation_p.E56*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.E56*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.E56*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.E56*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.E56*|CASP8_ENST00000392258.3_Nonsense_Mutation_p.E56*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.E56*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	56	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.E56*(4)|p.E115*(2)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AATGTTGGAGGAAAGCAATCT	0.453000										HNSCC(4;0.00038)			5	26					0.000602214	0.000621034	1	1	0
OR14A16	284532	broad.mit.edu	37	1	247978972	247978972	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:247978972A>C	ENST00000357627.1	-	1	59	c.60T>G	c.(58-60)aaT>aaG	p.N20K		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N20K(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AAATGCACATATTTTTATTGG	0.383000													8	18					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72020908	72020908	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr15:72020908C>T	ENST00000355327.3	+	9	1512	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C	THSD4_ENST00000261862.6_Missense_Mutation_p.R460C|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.R100C			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	460						proteinaceous extracellular matrix	metalloendopeptidase activity	p.R460C(2)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCGTTCTGGACGCTCCATCAT	0.507000													9	48					0	0	1	0	0
FAM149A	25854	broad.mit.edu	37	4	187084634	187084634	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr4:187084634C>T	ENST00000356371.5	+	10	1763	c.1763C>T	c.(1762-1764)cCg>cTg	p.P588L	FAM149A_ENST00000514153.1_Missense_Mutation_p.P297L|FAM149A_ENST00000389354.5_Missense_Mutation_p.P297L|FAM149A_ENST00000227065.4_Missense_Mutation_p.P297L|FAM149A_ENST00000502970.1_Missense_Mutation_p.P297L|FAM149A_ENST00000503432.1_Missense_Mutation_p.P297L			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	588								p.P297L(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		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;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TCCTCCGCACCGCACAGACTG	0.557000													10	59					0	0	1	0	0
NAA15	80155	broad.mit.edu	37	4	140265339	140265339	+	Splice_Site	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr4:140265339G>A	ENST00000296543.5	+	6	860		c.e6-1		NAA15_ENST00000398947.1_Splice_Site|NAA15_ENST00000480277.2_Splice_Site	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit						angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	p.?(2)		NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TCCATATACAGACATCCCCTG	0.333000													4	22					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126747837	126747837	+	Splice_Site	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr3:126747837G>A	ENST00000251772.4	+	25	4671	c.4600_splice	c.e25-1	p.E1534_splice	PLXNA1_ENST00000393409.2_Splice_Site_p.E1557_splice			Q9UIW2	PLXA1_HUMAN	plexin A1	1557					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.E1534E(2)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTCCCCCAGAGTGGCGCCAGG	0.647000													6	27					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202137390	202137390	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr2:202137390G>C	ENST00000358485.4	+	4	814	c.618G>C	c.(616-618)gaG>gaC	p.E206D	CASP8_ENST00000264274.9_Missense_Mutation_p.E147D|CASP8_ENST00000264275.5_Missense_Mutation_p.E179D|CASP8_ENST00000323492.7_Missense_Mutation_p.E147D|CASP8_ENST00000432109.2_Missense_Mutation_p.E147D|CASP8_ENST00000392259.2_Missense_Mutation_p.E147D|CASP8_ENST00000392258.3_Missense_Mutation_p.E147D|CASP8_ENST00000392266.3_Missense_Mutation_p.E147D	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	147					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.E179D(4)|p.E206D(2)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TAGAGATGGAGAAGAGGGTCA	0.398000										HNSCC(4;0.00038)			22	70					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242148934	242148934	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr2:242148934G>C	ENST00000274979.8	+	13	1508	c.1405G>C	c.(1405-1407)Gcc>Ccc	p.A469P	ANO7_ENST00000402430.3_Missense_Mutation_p.A468P	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	469						cell junction|chloride channel complex|cytosol	chloride channel activity	p.A469P(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCCCCAGTTTGCCGCCTCAGC	0.711000													4	23					0	0	1	0	0
EFCAB12	90288	broad.mit.edu	37	3	129137132	129137132	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr3:129137132T>G	ENST00000505956.1	-	3	808	c.646A>C	c.(646-648)Atc>Ctc	p.I216L	EFCAB12_ENST00000326085.3_Missense_Mutation_p.I216L	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12									p.I216L(2)									TCCCTGGTGATTCTCTGGTTC	0.547000													7	26					0	0	1	0	0
SOS1	6654	broad.mit.edu	37	2	39278344	39278344	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr2:39278344T>C	ENST00000426016.1	-	7	891	c.805A>G	c.(805-807)Atg>Gtg	p.M269V	SOS1_ENST00000428721.2_Missense_Mutation_p.M212V|SOS1_ENST00000402219.2_Missense_Mutation_p.M269V|SOS1_ENST00000395038.2_Missense_Mutation_p.M269V			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	269	DH.		M -> R (in NS4).|M -> T (in NS4).		apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.M269V(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TCATCTGTCATTTCTACTGTA	0.378000									Noonan syndrome				4	22					0	0	1	0	0
PDIA3	2923	broad.mit.edu	37	15	44038800	44038800	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr15:44038800C>T	ENST00000300289.5	+	1	211	c.63C>T	c.(61-63)ctC>ctT	p.L21L	PDIA3_ENST00000469684.1_3'UTR|PDIA3_ENST00000538521.1_5'UTR	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	21					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.L21L(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		CGGCCCGCCTCGCCGCTGCCT	0.706000													12	26					0	0	1	0	0
FOXA1	3169	broad.mit.edu	37	14	38061461	38061461	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr14:38061461G>C	ENST00000250448.2	-	2	589	c.528C>G	c.(526-528)atC>atG	p.I176M	FOXA1_ENST00000540786.1_Missense_Mutation_p.I143M|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	176					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.I176M(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TGATGAGCGAGATGTACGAGT	0.657000													15	72					0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10500113	10500113	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr11:10500113C>T	ENST00000396554.3	+	3	630	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	AMPD3_ENST00000444303.2_Intron	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	88					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.L97L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GTCCCTGTCTCTGCAAATGCC	0.547000													11	229					0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165962566	165962566	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr4:165962566G>A	ENST00000512596.1	+	3	1558	c.1342G>A	c.(1342-1344)Gtt>Att	p.V448I	TRIM60_ENST00000341062.5_Missense_Mutation_p.V448I|TRIM60_ENST00000508504.1_Missense_Mutation_p.V448I	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	448	B30.2/SPRY.					intracellular	zinc ion binding	p.V448I(2)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		CACAGAAGCCGTTTGGCCTTA	0.348000													6	40					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113364697	113364697	+	Missense_Mutation	SNP	T	T	C	rs139786530	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr8:113364697T>C	ENST00000297405.5	-	39	6447	c.6203A>G	c.(6202-6204)tAt>tGt	p.Y2068C	CSMD3_ENST00000352409.3_Missense_Mutation_p.Y1998C|CSMD3_ENST00000455883.2_Missense_Mutation_p.Y1964C|CSMD3_ENST00000343508.3_Missense_Mutation_p.Y2028C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2068	Sushi 11.					integral to membrane|plasma membrane		p.Y2028C(1)|p.Y2068C(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCAACCATATATCTGTCTCC	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	102					0	0	1	0	0
RMND5A	64795	broad.mit.edu	37	2	86993022	86993022	+	Silent	SNP	A	A	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr2:86993022A>G	ENST00000283632.4	+	6	1224	c.729A>G	c.(727-729)caA>caG	p.Q243Q	RMND5A_ENST00000472843.1_3'UTR	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	243								p.Q243Q(1)		kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						ACCTGAGACAAGGGATTGAGA	0.453000													5	95					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241386	3241386	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chrX:3241386C>T	ENST00000217939.6	-	5	2494	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	780						extracellular region		p.P780P(4)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCCAGCGCTCCGGATTAATCT	0.453000													32	169					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34243574	34243574	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr14:34243574G>A	ENST00000346562.2	+	7	862	c.788G>A	c.(787-789)aGa>aAa	p.R263K	NPAS3_ENST00000357798.5_Missense_Mutation_p.R282K|NPAS3_ENST00000551492.1_Missense_Mutation_p.R300K|NPAS3_ENST00000548645.1_Missense_Mutation_p.R265K|NPAS3_ENST00000356141.4_Missense_Mutation_p.R295K	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.R282K(1)|p.R295K(1)|p.R263K(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CTACGCCTGAGAGTGTCGCTG	0.488000													7	188					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72131361	72131361	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr9:72131361C>T	ENST00000265381.4	-	2	988	c.766G>A	c.(766-768)Gcg>Acg	p.A256T		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	256	Munc-18-1 binding.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		p.A256T(2)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGGTAGGGCGCGAACTCGGCC	0.687000													6	17					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29938182	29938182	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chrX:29938182G>A	ENST00000378993.1	+	8	1701	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R343Q	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	343	Ig-like C2-type 3.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.R343Q(2)|p.R343L(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AATGGACGTCGACACGCCAGC	0.438000													20	228					0	0	1	0	0
SPRY4	81848	broad.mit.edu	37	5	141693820	141693820	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr5:141693820G>C	ENST00000344120.4	-	3	1109	c.923C>G	c.(922-924)gCa>gGa	p.A308G	SPRY4_ENST00000434127.2_Missense_Mutation_p.A285G	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	285					multicellular organismal development	cytoplasm|ruffle membrane	protein binding	p.A308G(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGCTGGCTGCTTTGCAGAT	0.627000									Testicular Cancer, Familial Clustering of				15	67					0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162740301	162740301	+	Splice_Site	SNP	A	A	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr1:162740301A>G	ENST00000367922.2	+	13	1941	c.1504_splice	c.e13+1	p.S501_splice	DDR2_ENST00000367921.3_Splice_Site_p.S501_splice	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	501					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.S501S(2)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			AGGAGGAGTCAGGTGAGGATG	0.527000													13	111					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6167746	6167746	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr6:6167746T>C	ENST00000264870.3	-	13	2118	c.1853A>G	c.(1852-1854)gAt>gGt	p.D618G		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	618					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.D618G(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGCCAGAACATCCCTGGTCTC	0.537000													27	201					0	0	1	0	0
KAT5	10524	broad.mit.edu	37	11	65482336	65482336	+	Silent	SNP	C	C	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr11:65482336C>G	ENST00000341318.4	+	8	1218	c.984C>G	c.(982-984)cgC>cgG	p.R328R	KAT5_ENST00000530446.1_Silent_p.R276R|KAT5_ENST00000377046.3_Silent_p.R295R|KAT5_ENST00000352980.4_Silent_p.R243R|KAT5_ENST00000534650.1_Silent_p.R84R	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	295					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	p.R328R(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						AGATTTACCGCAAGGGCACCA	0.522000													27	144					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53854397	53854397	+	Missense_Mutation	SNP	G	G	C	rs10415799	by1000genomes	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr19:53854397G>C	ENST00000458035.1	+	4	586	c.469G>C	c.(469-471)Gaa>Caa	p.E157Q	ZNF845_ENST00000595091.1_Missense_Mutation_p.E157Q	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E157Q(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAGACCGAAGGGAAAAT	0.408000													10	219					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30945312	30945312	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr8:30945312T>A	ENST00000298139.5	+	12	1701	c.1452T>A	c.(1450-1452)agT>agA	p.S484R		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	484					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	p.S484R(2)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ACCTCAATAGTGGCACGGTAG	0.333000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				47	246					0	0	1	0	0
NAA15	80155	broad.mit.edu	37	4	140265339	140265339	+	Splice_Site	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr4:140265339G>A	ENST00000296543.5	+	6	860		c.e6-1		NAA15_ENST00000480277.2_Splice_Site|NAA15_ENST00000398947.1_Splice_Site	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit						angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	p.?(2)		NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TCCATATACAGACATCCCCTG	0.333000													4	47					0	0	1	0	0
FOXA1	3169	broad.mit.edu	37	14	38061461	38061461	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr14:38061461G>C	ENST00000250448.2	-	2	589	c.528C>G	c.(526-528)atC>atG	p.I176M	FOXA1_ENST00000540786.1_Missense_Mutation_p.I143M|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	176					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.I176M(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TGATGAGCGAGATGTACGAGT	0.657000													21	61					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202131375	202131375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr2:202131375G>T	ENST00000358485.4	+	2	539	c.343G>T	c.(343-345)Gaa>Taa	p.E115*	CASP8_ENST00000264274.9_Nonsense_Mutation_p.E56*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.E56*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.E56*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.E56*|CASP8_ENST00000392258.3_Nonsense_Mutation_p.E56*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.E56*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.E56*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	56	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.E56*(4)|p.E115*(2)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AATGTTGGAGGAAAGCAATCT	0.453000										HNSCC(4;0.00038)			22	111					1.55469e-16	1.65066e-16	1	1	0
ZNF354C	30832	broad.mit.edu	37	5	178503470	178503470	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr5:178503470G>A	ENST00000315475.6	+	3	358	c.52G>A	c.(52-54)Gcc>Acc	p.A18T		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	18	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A18T(1)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		CAGGGATGTGGCCGTGTTCTT	0.552000													17	381					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28671107	28671107	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr18:28671107G>A	ENST00000280904.6	-	4	801	c.358C>T	c.(358-360)Cta>Tta	p.L120L	DSC2_ENST00000251081.6_Silent_p.L120L	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	120					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.L120L(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CTTTTCTTTAGGACCTCAATT	0.378000													11	67					0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681728	55681728	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr11:55681728C>T	ENST00000344514.1	-	1	330	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E111K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGTAGACACTCAGAATCTGCA	0.468000													10	250					0	0	1	0	0
CSF1	1435	broad.mit.edu	37	1	110465931	110465931	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr1:110465931G>A	ENST00000329608.6	+	6	1079	c.688G>A	c.(688-690)Gag>Aag	p.E230K	CSF1_ENST00000420111.2_Intron|CSF1_ENST00000369801.1_Missense_Mutation_p.E230K|CSF1_ENST00000369802.3_Missense_Mutation_p.E230K|CSF1_ENST00000344188.5_Missense_Mutation_p.E230K	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	230					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity	p.E230K(2)		breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGAGGGAACTGAGGGCAGCTC	0.662000											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	54					0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60351457	60351457	+	Silent	SNP	G	G	A	rs4968502	by1000genomes	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr17:60351457G>A	ENST00000602932.1	-	2	234	c.204C>T	c.(202-204)cgC>cgT	p.R68R	TBC1D3P2_ENST00000581291.1_RNA																							CCAACTACCCGCGACCTCTAC	0.537000													9	172					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76083029	76083029	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr17:76083029G>A	ENST00000335749.4	+	13	4217	c.3648G>A	c.(3646-3648)ccG>ccA	p.P1216P	TNRC6C_ENST00000544502.1_Silent_p.P1216P|TNRC6C_ENST00000301624.4_Silent_p.P1219P|TNRC6C_ENST00000541771.1_Silent_p.P1219P|TNRC6C_ENST00000588847.1_Silent_p.P1216P|TNRC6C_ENST00000588061.1_Silent_p.P1219P	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1219	Pro-rich.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	p.P1216P(1)|p.P1219P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CACCGCCACCGCCCCCGCCGC	0.667000													2	7					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39895535	39895535	+	Missense_Mutation	SNP	G	G	A	rs148290248	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr1:39895535G>A	ENST00000564288.1	+	65	17702	c.16925G>A	c.(16924-16926)gGt>gAt	p.G5642D	MACF1_ENST00000317713.7_Missense_Mutation_p.G3580D|MACF1_ENST00000372915.3_Missense_Mutation_p.G5538D|MACF1_ENST00000289893.4_Missense_Mutation_p.G4082D|MACF1_ENST00000545844.1_Missense_Mutation_p.G3580D|MACF1_ENST00000361689.2_Missense_Mutation_p.G3580D|MACF1_ENST00000567887.1_Missense_Mutation_p.G5679D|MACF1_ENST00000539005.1_Missense_Mutation_p.G3450D			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5647					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	p.G4082D(1)|p.G3580D(1)		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)			AAACTAGATGGTATAAAGACT	0.453000													5	147					0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10500113	10500113	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr11:10500113C>T	ENST00000396554.3	+	3	630	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	AMPD3_ENST00000444303.2_Intron	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	88					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.L97L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GTCCCTGTCTCTGCAAATGCC	0.547000													10	295					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176740237	176740237	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr1:176740237C>T	ENST00000367662.3	+	17	5800	c.4636C>T	c.(4636-4638)Cac>Tac	p.H1546Y		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1546	Sushi 3.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.H1546Y(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCAGGACAACCACGACGTGGG	0.498000													12	413					0	0	1	0	0
GPN2	54707	broad.mit.edu	37	1	27216290	27216290	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr1:27216290C>T	ENST00000374135.4	-	1	498	c.298G>A	c.(298-300)Gac>Aac	p.D100N		NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	100							GTP binding	p.D100N(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						CGGAGGGGGTCGAGCTTGGCA	0.667000													7	53					0	0	1	0	0
TANGO6	79613	broad.mit.edu	37	16	68941376	68941376	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr16:68941376G>A	ENST00000261778.1	+	10	1710	c.1698G>A	c.(1696-1698)caG>caA	p.Q566Q		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)									p.Q95Q(2)|p.Q566Q(2)									CCCTGTACCAGAAGGTATCCT	0.473000													30	219					0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34666634	34666634	+	Splice_Site	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr1:34666634G>A	ENST00000488417.1	+	3	1390		c.e3+1		C1orf94_ENST00000373374.3_Splice_Site	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94								protein binding	p.?(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GAGCTGAAATGTGAGCTGACC	0.567000													4	15					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202137390	202137390	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr2:202137390G>C	ENST00000358485.4	+	4	814	c.618G>C	c.(616-618)gaG>gaC	p.E206D	CASP8_ENST00000264274.9_Missense_Mutation_p.E147D|CASP8_ENST00000323492.7_Missense_Mutation_p.E147D|CASP8_ENST00000264275.5_Missense_Mutation_p.E179D|CASP8_ENST00000432109.2_Missense_Mutation_p.E147D|CASP8_ENST00000392258.3_Missense_Mutation_p.E147D|CASP8_ENST00000392259.2_Missense_Mutation_p.E147D|CASP8_ENST00000392266.3_Missense_Mutation_p.E147D	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	147					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.E179D(4)|p.E206D(2)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TAGAGATGGAGAAGAGGGTCA	0.398000										HNSCC(4;0.00038)			53	263					0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72404811	72404811	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr11:72404811A>G	ENST00000359373.5	-	28	4585	c.3734T>C	c.(3733-3735)cTg>cCg	p.L1245P	ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000334211.8_Missense_Mutation_p.L1000P|ARAP1_ENST00000426523.1_Missense_Mutation_p.L1000P|ARAP1_ENST00000429686.1_Missense_Mutation_p.L939P|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000393605.3_Missense_Mutation_p.L1005P|ARAP1_ENST00000455638.2_Missense_Mutation_p.L1245P|ARAP1_ENST00000393609.3_Missense_Mutation_p.L1245P			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1245	Ras-associating.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	p.L1005P(1)|p.L1245P(1)		cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CAGCCCGTGCAGGATGGGCAG	0.652000													9	31					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32621515	32621515	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr8:32621515G>A	ENST00000338921.4	+	13	2059	c.1542G>A	c.(1540-1542)gcG>gcA	p.A514A	NRG1_ENST00000287845.5_Silent_p.A477A|NRG1_ENST00000539990.1_Silent_p.A349A|NRG1_ENST00000287840.5_Silent_p.A506A|NRG1_ENST00000287842.3_Silent_p.A503A|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000405005.2_Silent_p.A506A|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000356819.4_Silent_p.A511A|NRG1_ENST00000519301.1_Silent_p.A456A			Q02297	NRG1_HUMAN	neuregulin 1	506					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	p.A511A(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ACAACCCCGCGCATGACAGTA	0.542000													10	91					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146351336	146351336	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr6:146351336C>T	ENST00000392299.2	+	2	1153	c.683C>T	c.(682-684)tCt>tTt	p.S228F	GRM1_ENST00000492807.2_Missense_Mutation_p.S228F|GRM1_ENST00000355289.4_Missense_Mutation_p.S228F|GRM1_ENST00000282753.1_Missense_Mutation_p.S228F|GRM1_ENST00000507907.1_Missense_Mutation_p.S228F|GRM1_ENST00000361719.2_Missense_Mutation_p.S228F			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	228					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.S228F(4)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ACCTATGTCTCTGCAGTCCAC	0.448000													28	176					0	0	1	0	0
AQP10	89872	broad.mit.edu	37	1	154296116	154296116	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr1:154296116C>T	ENST00000484864.1	+	5	577	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000324978.3_Missense_Mutation_p.R181W			Q96PS8	AQP10_HUMAN	aquaporin 10	181					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	p.R181W(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTGGACAGACGGAACAAGGG	0.612000													8	132					0	0	1	0	0
PAPOLA	10914	broad.mit.edu	37	14	97022682	97022682	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr14:97022682A>G	ENST00000216277.8	+	19	2156	c.1936A>G	c.(1936-1938)Ata>Gta	p.I646V	PAPOLA_ENST00000392990.2_Missense_Mutation_p.I646V	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	646					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	p.I646V(2)		breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ACCTACTCCTATAGTAGGAGT	0.398000													60	246					0	0	1	0	0
FAM149A	25854	broad.mit.edu	37	4	187084634	187084634	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr4:187084634C>T	ENST00000356371.5	+	10	1763	c.1763C>T	c.(1762-1764)cCg>cTg	p.P588L	FAM149A_ENST00000227065.4_Missense_Mutation_p.P297L|FAM149A_ENST00000503432.1_Missense_Mutation_p.P297L|FAM149A_ENST00000514153.1_Missense_Mutation_p.P297L|FAM149A_ENST00000389354.5_Missense_Mutation_p.P297L|FAM149A_ENST00000502970.1_Missense_Mutation_p.P297L			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	588								p.P297L(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		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;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TCCTCCGCACCGCACAGACTG	0.557000													43	172					0	0	1	0	0
EFCAB12	90288	broad.mit.edu	37	3	129137132	129137132	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr3:129137132T>G	ENST00000505956.1	-	3	808	c.646A>C	c.(646-648)Atc>Ctc	p.I216L	EFCAB12_ENST00000326085.3_Missense_Mutation_p.I216L	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12									p.I216L(2)									TCCCTGGTGATTCTCTGGTTC	0.547000													11	123					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20370667	20370667	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr16:20370667T>C	ENST00000302451.4	-	12	1977	c.1729A>G	c.(1729-1731)Aaa>Gaa	p.K577E		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	577					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.K577E(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ACTTTTGGTTTCTTCTTTTGC	0.448000													45	433					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115393903	115393903	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr10:115393903G>C	ENST00000369358.4	-	15	1739	c.1495C>G	c.(1495-1497)Caa>Gaa	p.Q499E	NRAP_ENST00000360478.3_Missense_Mutation_p.Q464E|NRAP_ENST00000369360.3_Missense_Mutation_p.Q464E|NRAP_ENST00000359988.3_Missense_Mutation_p.Q499E			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	499						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.Q499E(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATTTTGGCTTGAACAATCTGT	0.473000													16	626					0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122774779	122774779	+	Missense_Mutation	SNP	A	A	G	rs147035469	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr11:122774779A>G	ENST00000227349.2	+	3	788	c.491A>G	c.(490-492)tAc>tGc	p.Y164C	C11orf63_ENST00000307257.6_Missense_Mutation_p.Y164C|C11orf63_ENST00000531316.1_Missense_Mutation_p.Y164C	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	164								p.Y164C(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GCTCCCCTCTACCCTTCCCAG	0.517000													10	47					0	0	1	0	0
PLP2	5355	broad.mit.edu	37	X	49029495	49029495	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chrX:49029495T>C	ENST00000376327.5	+	2	191	c.116T>C	c.(115-117)cTg>cCg	p.L39P	PLP2_ENST00000376322.3_Missense_Mutation_p.L39P	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	39	MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity	p.L39P(2)		endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						CTGGTGATCCTGATCTGCTTC	0.493000													12	88					0	0	1	0	0
HSPA5	3309	broad.mit.edu	37	9	128000573	128000573	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr9:128000573G>A	ENST00000324460.6	-	7	1452	c.1249C>T	c.(1249-1251)Ctt>Ttt	p.L417F		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	417					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	p.L417F(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	CATACATCAAGCAGTACCAGG	0.398000										Prostate(1;0.17)			21	102					0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr2:97869931A>T	ENST00000420699.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289000													3	21					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229779279	229779279	+	Splice_Site	SNP	G	G	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr1:229779279G>T	ENST00000258243.2	+	5	3770		c.e5-1			NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							nucleolus		p.?(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TTCCCACACAGATCCTGAAAT	0.458000													6	108					1.06961e-07	1.10827e-07	1	1	0
BROX	148362	broad.mit.edu	37	1	222900585	222900585	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr1:222900585T>C	ENST00000340934.5	+	8	1062	c.656T>C	c.(655-657)tTc>tCc	p.F219S	BROX_ENST00000539697.1_Missense_Mutation_p.F187S|BROX_ENST00000537020.1_Missense_Mutation_p.F219S	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	219	BRO1.					membrane		p.F219S(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						ACAGCCAATTTCTATCAAAAA	0.343000													26	119					0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51487353	51487353	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chrX:51487353C>T	ENST00000340438.4	+	1	873	c.631C>T	c.(631-633)Cat>Tat	p.H211Y		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	211					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding	p.H211Y(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					ATTCATTGGCCATGTAGACGC	0.403000													5	72					0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064470	78064470	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr16:78064470A>G	ENST00000299642.4	+	3	438	c.353A>G	c.(352-354)gAc>gGc	p.D118G	CLEC3A_ENST00000565808.1_3'UTR|CLEC3A_ENST00000575655.1_Missense_Mutation_p.D109G|RP11-281J9.2_ENST00000563114.1_RNA	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	109	C-type lectin.				skeletal system development	extracellular region	sugar binding	p.D109G(2)		NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						AGGAACTCCGACGAAATCAAC	0.473000													25	178					0	0	1	0	0
PTMA	5757	broad.mit.edu	37	2	232577559	232577559	+	Nonstop_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr2:232577559T>C	ENST00000409115.3	+	5	529	c.331T>C	c.(331-333)Tag>Cag	p.*111Q	PTMA_ENST00000410064.1_Nonstop_Mutation_p.*137Q|PTMA_ENST00000409683.1_Nonstop_Mutation_p.*108Q|PTMA_ENST00000409321.1_Nonstop_Mutation_p.*132Q|PTMA_ENST00000341369.7_Nonstop_Mutation_p.*112Q|PTMA_ENST00000466801.1_3'UTR	NM_002823.4	NP_002814.3	P06454	PTMA_HUMAN	prothymosin, alpha	0					transcription, DNA-dependent	nucleus		p.*111Q(1)		lung(3)|ovary(1)|prostate(1)|skin(1)	6		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CGAGGATGACTAGACAGCAAA	0.488000													2	7					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101073106	101073106	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr6:101073106C>T	ENST00000369162.2	-	30	5091	c.4747G>A	c.(4747-4749)Gaa>Aaa	p.E1583K		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1583	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.E1583K(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TTTGGATCTTCTTCAGTAGCC	0.378000													6	117					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125671706	125671706	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr2:125671706C>T	ENST00000431078.1	+	24	4126	c.3762C>T	c.(3760-3762)atC>atT	p.I1254I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1254					cell adhesion|signal transduction	integral to membrane	receptor binding	p.I1254I(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCTTCTGTATCATCGGCATCA	0.473000													46	626					0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53012246	53012246	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr12:53012246G>A	ENST00000305748.3	-	1	97	c.63C>T	c.(61-63)tcC>tcT	p.S21S		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	21	Gly-rich.|Head.					keratin filament	structural molecule activity	p.S21S(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGAGCACAGCGGAGCAGCCGC	0.642000													10	22					0	0	1	0	0
KCNMB1	3779	broad.mit.edu	37	5	169812334	169812334	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr5:169812334G>T	ENST00000274629.4	-	2	560	c.118C>A	c.(118-120)Ccc>Acc	p.P40T	KCNMB1_ENST00000521859.1_Missense_Mutation_p.P40T|KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	40					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity	p.P40T(2)		endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		TGGTAGAGGGGCAGCACAGTC	0.597000													19	117					2.21704e-12	2.32518e-12	1	1	0
SCN7A	6332	broad.mit.edu	37	2	167301341	167301341	+	Silent	SNP	T	T	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr2:167301341T>C	ENST00000409855.1	-	12	1683	c.1557A>G	c.(1555-1557)gtA>gtG	p.V519V		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	519					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V519V(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TCAGAAAACATACGTTTAAAA	0.323000													12	39					0	0	1	0	0
FAM46D	169966	broad.mit.edu	37	X	79698599	79698599	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chrX:79698599C>A	ENST00000538312.1	+	5	895	c.561C>A	c.(559-561)taC>taA	p.Y187*	FAM46D_ENST00000308293.5_Nonsense_Mutation_p.Y187*	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	187								p.Y187*(1)		kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TAGACTTCTACAGTGACAAAA	0.383000													16	140					5.3912e-06	5.45463e-06	1	1	0
NDUFAF3	25915	broad.mit.edu	37	3	49060156	49060156	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr3:49060156A>G	ENST00000326925.6	+	3	1426	c.292A>G	c.(292-294)Acc>Gcc	p.T98A	NDUFAF3_ENST00000451378.2_Missense_Mutation_p.T41A|NDUFAF3_ENST00000326912.4_Missense_Mutation_p.T41A|NDUFAF3_ENST00000395458.2_Missense_Mutation_p.T41A	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	98					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding	p.T98A(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						CCAGGACATCACCGAAGACAG	0.592000													20	123					0	0	1	0	0
C14orf177	283598	broad.mit.edu	37	14	99183502	99183502	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr14:99183502G>T	ENST00000325812.2	+	4	688	c.269G>T	c.(268-270)gGg>gTg	p.G90V		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	90								p.G90V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				ACTTCTCCAGGGTCATGTAAT	0.433000													14	256					1.75922e-31	1.89116e-31	1	1	0
NGLY1	55768	broad.mit.edu	37	3	25824758	25824758	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr3:25824758T>C	ENST00000428257.1	-	1	231	c.124A>G	c.(124-126)Atc>Gtc	p.I42V	NGLY1_ENST00000417874.2_Intron|NGLY1_ENST00000396649.3_Missense_Mutation_p.I42V|NGLY1_ENST00000280700.5_Missense_Mutation_p.I42V	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	42	PUB.				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	p.I42V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CACCTGAGGATGTTGTCAGCA	0.682000													6	14					0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978972	247978972	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr1:247978972A>C	ENST00000357627.1	-	1	59	c.60T>G	c.(58-60)aaT>aaG	p.N20K		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N20K(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AAATGCACATATTTTTATTGG	0.383000													40	127					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89923108	89923108	+	Silent	SNP	C	C	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr5:89923108C>A	ENST00000405460.2	+	7	849	c.753C>A	c.(751-753)tcC>tcA	p.S251S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	251					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.S251S(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTAGGAATTCCATTGAGATCA	0.343000													9	75					3.09899e-07	3.17277e-07	1	1	0
SOS1	6654	broad.mit.edu	37	2	39278344	39278344	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr2:39278344T>C	ENST00000426016.1	-	7	891	c.805A>G	c.(805-807)Atg>Gtg	p.M269V	SOS1_ENST00000428721.2_Missense_Mutation_p.M212V|SOS1_ENST00000402219.2_Missense_Mutation_p.M269V|SOS1_ENST00000395038.2_Missense_Mutation_p.M269V			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	269	DH.		M -> R (in NS4).|M -> T (in NS4).		apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.M269V(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TCATCTGTCATTTCTACTGTA	0.378000									Noonan syndrome				37	115					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72020908	72020908	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr15:72020908C>T	ENST00000355327.3	+	9	1512	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C	THSD4_ENST00000261862.6_Missense_Mutation_p.R460C|THSD4_ENST00000357769.4_Missense_Mutation_p.R100C|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	460						proteinaceous extracellular matrix	metalloendopeptidase activity	p.R460C(2)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCGTTCTGGACGCTCCATCAT	0.507000													120	431					0	0	1	0	0
RNASE4	6038	broad.mit.edu	37	14	21167803	21167803	+	Silent	SNP	A	A	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr14:21167803A>G	ENST00000555835.1	+	2	949	c.273A>G	c.(271-273)caA>caG	p.Q91Q	RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000397995.2_Silent_p.Q91Q|RNASE4_ENST00000555597.1_Silent_p.Q91Q|AL163636.6_ENST00000553909.1_RNA|RNASE4_ENST00000304704.4_Silent_p.Q91Q	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	91					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.Q91Q(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		CCAATATCCAATGCAAGAACG	0.483000													38	800					0	0	1	0	0
PDIA3	2923	broad.mit.edu	37	15	44038800	44038800	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr15:44038800C>T	ENST00000300289.5	+	1	211	c.63C>T	c.(61-63)ctC>ctT	p.L21L	PDIA3_ENST00000538521.1_5'UTR|PDIA3_ENST00000469684.1_3'UTR	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	21					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.L21L(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		CGGCCCGCCTCGCCGCTGCCT	0.706000													3	9					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136681011	136681011	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr6:136681011G>A	ENST00000354570.3	-	15	2269	c.1859C>T	c.(1858-1860)aCc>aTc	p.T620I	MAP7_ENST00000544465.1_Missense_Mutation_p.T605I|MAP7_ENST00000432797.2_Missense_Mutation_p.T474I|MAP7_ENST00000438100.2_Missense_Mutation_p.T605I|MAP7_ENST00000454590.1_Missense_Mutation_p.T642I	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	620					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	p.T620I(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CTGATCACTGGTTTTCTACGA	0.328000													30	109					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49928032	49928032	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr3:49928032G>A	ENST00000296474.3	-	18	3723	c.3696C>T	c.(3694-3696)gaC>gaT	p.D1232D	MST1R_ENST00000344206.4_Silent_p.D1183D	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1232	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	p.D1232D(4)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGTCCAGGATGTCGCGGGCCA	0.557000													8	45					0	0	1	0	0
GPALPP1	55425	broad.mit.edu	37	13	45582975	45582975	+	Silent	SNP	A	A	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr13:45582975A>G	ENST00000361121.2	+	4	404	c.369A>G	c.(367-369)acA>acG	p.T123T	KIAA1704_ENST00000357537.3_5'UTR|RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000379151.4_Silent_p.T123T			Q8IXQ4	K1704_HUMAN		123								p.T123T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		TTAAATCTACACAGAAAAGTG	0.358000													12	56					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29819539	29819539	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr10:29819539G>A	ENST00000375398.2	-	13	2552	c.2103C>T	c.(2101-2103)ttC>ttT	p.F701F	SVIL_ENST00000375400.3_Silent_p.F307F|SVIL_ENST00000355867.4_Silent_p.F701F			O95425	SVIL_HUMAN	supervillin	701					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	p.F701F(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)				AGCTTACCCTGAAAAGCAACC	0.483000													103	350					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115222965	115222965	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr1:115222965C>T	ENST00000369538.3	-	5	816	c.769G>A	c.(769-771)Gag>Aag	p.E257K	AMPD1_ENST00000353928.6_Missense_Mutation_p.E228K|AMPD1_ENST00000520113.2_Missense_Mutation_p.E261K	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	228					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.E228K(1)|p.E261K(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GGCTTAGGCTCATCTTTGCTG	0.423000													27	290					0	0	1	0	0
ATF2	1386	broad.mit.edu	37	2	175982723	175982723	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr2:175982723C>T	ENST00000264110.2	-	7	740	c.442G>A	c.(442-444)Gag>Aag	p.E148K	ATF2_ENST00000487334.2_Missense_Mutation_p.E130K|ATF2_ENST00000392544.1_Missense_Mutation_p.E148K|ATF2_ENST00000409833.1_Missense_Mutation_p.E148K|ATF2_ENST00000409635.1_Missense_Mutation_p.E90K|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000345739.5_Missense_Mutation_p.E90K|ATF2_ENST00000426833.3_Missense_Mutation_p.E130K|ATF2_ENST00000409437.1_Missense_Mutation_p.E130K|ATF2_ENST00000538946.1_Missense_Mutation_p.E130K	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	148					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	p.E148K(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			CTAACCTTCTCATCACTGGTA	0.353000													39	129					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61655283	61655283	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr8:61655283C>G	ENST00000423902.2	+	2	1771	c.1292C>G	c.(1291-1293)cCc>cGc	p.P431R	CHD7_ENST00000525508.1_Missense_Mutation_p.P431R|CHD7_ENST00000524602.1_Missense_Mutation_p.P431R	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	431	Pro-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.P431R(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCAAATATGCCCCATCCTCAG	0.537000													11	301					0	0	1	0	0
TRAV29DV5	28653	broad.mit.edu	37	14	22631217	22631217	+	RNA	SNP	C	C	T	rs2075492	by1000genomes	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr14:22631217C>T	ENST00000390458.3	+	0	84																											AGGCAGGAGACAAGACAATCT	0.493000											OREG0022575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	117					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109817864	109817864	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr4:109817864C>T	ENST00000399132.1	-	16	1395	c.865G>A	c.(865-867)Gac>Aac	p.D289N	COL25A1_ENST00000399127.1_Missense_Mutation_p.D285N|COL25A1_ENST00000399126.1_Missense_Mutation_p.D289N	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	289	Collagen-like 3.					collagen|extracellular space	beta-amyloid binding|heparin binding	p.D289N(7)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TCTCCAGCGTCTCCCTGAGGA	0.393000													69	246					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73047023	73047023	+	RNA	SNP	C	C	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chrX:73047023C>G	ENST00000604411.1	+	0	34984				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GATCATCTCACATGGCAGCCT	0.527000													72	350					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746185	77746185	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr2:77746185C>T	ENST00000409088.3	-	3	1224	c.810G>A	c.(808-810)ccG>ccA	p.P270P	LRRTM4_ENST00000409884.1_Silent_p.P270P|LRRTM4_ENST00000409093.1_Silent_p.P270P|LRRTM4_ENST00000409911.1_Silent_p.P271P|LRRTM4_ENST00000409282.1_Silent_p.P271P	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	270						integral to membrane		p.P270P(4)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TAAATGTGCCCGGCTCAATTC	0.408000													11	26					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126747837	126747837	+	Splice_Site	SNP	G	G	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr3:126747837G>A	ENST00000393409.2	+	25	4671	c.4669_splice	c.e25-1	p.E1557_splice	PLXNA1_ENST00000251772.4_Splice_Site_p.E1534_splice	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1557					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.E1534E(2)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTCCCCCAGAGTGGCGCCAGG	0.647000													7	14					0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165962566	165962566	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr4:165962566G>A	ENST00000512596.1	+	3	1558	c.1342G>A	c.(1342-1344)Gtt>Att	p.V448I	TRIM60_ENST00000341062.5_Missense_Mutation_p.V448I|TRIM60_ENST00000508504.1_Missense_Mutation_p.V448I	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	448	B30.2/SPRY.					intracellular	zinc ion binding	p.V448I(2)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		CACAGAAGCCGTTTGGCCTTA	0.348000													4	24					0	0	1	0	0
MSL3	10943	broad.mit.edu	37	X	11783605	11783605	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chrX:11783605C>T	ENST00000337339.2	+	9	955	c.928C>T	c.(928-930)Ccc>Tcc	p.P310S	MSL3_ENST00000361672.2_Missense_Mutation_p.P161S|MSL3_ENST00000312196.4_Missense_Mutation_p.P310S|MSL3_ENST00000380693.3_Missense_Mutation_p.P144S|MSL3_ENST00000398527.2_Missense_Mutation_p.P298S	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	310					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						GGAACTCTCTCCCAGTCCGCC	0.557000													4	119					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136681011	136681011	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr6:136681011G>A	ENST00000354570.3	-	15	2269	c.1859C>T	c.(1858-1860)aCc>aTc	p.T620I	MAP7_ENST00000544465.1_Missense_Mutation_p.T605I|MAP7_ENST00000438100.2_Missense_Mutation_p.T605I|MAP7_ENST00000432797.2_Missense_Mutation_p.T474I|MAP7_ENST00000454590.1_Missense_Mutation_p.T642I	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	620					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	p.T620I(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CTGATCACTGGTTTTCTACGA	0.328000													14	60					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642976	1642976	+	Silent	SNP	A	A	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr11:1642976A>C	ENST00000399682.1	-	1	392	c.348T>G	c.(346-348)ggT>ggG	p.G116G		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	116	9 X 4 AA repeats of C-C-X-P.					keratin filament		p.G116G(3)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCCTTGGAACCCCCACAGG	0.662000													11	102					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								4	31					0	0	1	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22926500	22926500	+	Translation_Start_Site	SNP	G	G	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr8:22926500G>C	ENST00000276431.4	-	0	192				TNFRSF10B_ENST00000542226.1_De_novo_Start_OutOfFrame|RP11-875O11.2_ENST00000501897.1_RNA|TNFRSF10B_ENST00000347739.3_De_novo_Start_OutOfFrame	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b						activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TGGGCGCAGAGATTGCGGGGT	0.597000													6	25					0	0	1	0	0
CSF1	1435	broad.mit.edu	37	1	110465931	110465931	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr1:110465931G>A	ENST00000329608.6	+	6	1079	c.688G>A	c.(688-690)Gag>Aag	p.E230K	CSF1_ENST00000420111.2_Intron|CSF1_ENST00000369801.1_Missense_Mutation_p.E230K|CSF1_ENST00000369802.3_Missense_Mutation_p.E230K|CSF1_ENST00000344188.5_Missense_Mutation_p.E230K	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	230					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity	p.E230K(2)		breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGAGGGAACTGAGGGCAGCTC	0.662000											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	49					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125671706	125671706	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr2:125671706C>T	ENST00000431078.1	+	24	4126	c.3762C>T	c.(3760-3762)atC>atT	p.I1254I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1254					cell adhesion|signal transduction	integral to membrane	receptor binding	p.I1254I(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCTTCTGTATCATCGGCATCA	0.473000													5	41					0	0	1	0	0
NDUFAF3	25915	broad.mit.edu	37	3	49060156	49060156	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr3:49060156A>G	ENST00000326925.6	+	3	1426	c.292A>G	c.(292-294)Acc>Gcc	p.T98A	NDUFAF3_ENST00000326912.4_Missense_Mutation_p.T41A|NDUFAF3_ENST00000451378.2_Missense_Mutation_p.T41A|NDUFAF3_ENST00000395458.2_Missense_Mutation_p.T41A	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	98					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding	p.T98A(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						CCAGGACATCACCGAAGACAG	0.592000													31	197					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49928032	49928032	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr3:49928032G>A	ENST00000296474.3	-	18	3723	c.3696C>T	c.(3694-3696)gaC>gaT	p.D1232D	MST1R_ENST00000344206.4_Silent_p.D1183D	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1232	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	p.D1232D(4)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGTCCAGGATGTCGCGGGCCA	0.557000													6	24					0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122774779	122774779	+	Missense_Mutation	SNP	A	A	G	rs147035469	byFrequency	TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr11:122774779A>G	ENST00000227349.2	+	3	788	c.491A>G	c.(490-492)tAc>tGc	p.Y164C	C11orf63_ENST00000531316.1_Missense_Mutation_p.Y164C|C11orf63_ENST00000307257.6_Missense_Mutation_p.Y164C	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	164								p.Y164C(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GCTCCCCTCTACCCTTCCCAG	0.517000													15	61					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29819539	29819539	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr10:29819539G>A	ENST00000375398.2	-	13	2552	c.2103C>T	c.(2101-2103)ttC>ttT	p.F701F	SVIL_ENST00000375400.3_Silent_p.F307F|SVIL_ENST00000355867.4_Silent_p.F701F			O95425	SVIL_HUMAN	supervillin	701					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	p.F701F(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)				AGCTTACCCTGAAAAGCAACC	0.483000													16	73					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241386	3241386	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chrX:3241386C>T	ENST00000217939.6	-	5	2494	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	780						extracellular region		p.P780P(4)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCCAGCGCTCCGGATTAATCT	0.453000													14	55					0	0	1	0	0
MT-ND1	4535	broad.mit.edu	37	MT	3526	3526	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chrM:3526G>A	ENST00000361390.2	+	1	220	c.220G>A	c.(220-222)Gcc>Acc	p.74_74insT						mitochondrially encoded NADH dehydrogenase 1											breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34						TCTACATCACCGCCCCGACCT	0.542000													5	1					0	0	1	0	0
BROX	148362	broad.mit.edu	37	1	222900585	222900585	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr1:222900585T>C	ENST00000340934.5	+	8	1062	c.656T>C	c.(655-657)tTc>tCc	p.F219S	BROX_ENST00000537020.1_Missense_Mutation_p.F219S|BROX_ENST00000539697.1_Missense_Mutation_p.F187S	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	219	BRO1.					membrane		p.F219S(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						ACAGCCAATTTCTATCAAAAA	0.343000													10	41					0	0	1	0	0
SOS1	6654	broad.mit.edu	37	2	39278344	39278344	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr2:39278344T>C	ENST00000426016.1	-	7	891	c.805A>G	c.(805-807)Atg>Gtg	p.M269V	SOS1_ENST00000395038.2_Missense_Mutation_p.M269V|SOS1_ENST00000428721.2_Missense_Mutation_p.M212V|SOS1_ENST00000402219.2_Missense_Mutation_p.M269V			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	269	DH.		M -> R (in NS4).|M -> T (in NS4).		apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.M269V(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TCATCTGTCATTTCTACTGTA	0.378000									Noonan syndrome				4	22					0	0	1	0	0
TDG	6996	broad.mit.edu	37	12	104376991	104376991	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr12:104376991G>A	ENST00000392872.3	+	6	926	c.692G>A	c.(691-693)gGa>gAa	p.G231E	TDG_ENST00000266775.9_Missense_Mutation_p.G227E|TDG_ENST00000542036.1_Intron|TDG_ENST00000544861.1_Missense_Mutation_p.G88E	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	231					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		GTGTTTAATGGAAAATGTAAG	0.254000								Base excision repair (BER), DNA glycosylases					4	66					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115222965	115222965	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr1:115222965C>T	ENST00000369538.3	-	5	816	c.769G>A	c.(769-771)Gag>Aag	p.E257K	AMPD1_ENST00000520113.2_Missense_Mutation_p.E261K|AMPD1_ENST00000353928.6_Missense_Mutation_p.E228K	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	228					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.E228K(1)|p.E261K(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GGCTTAGGCTCATCTTTGCTG	0.423000													4	52					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89923108	89923108	+	Silent	SNP	C	C	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr5:89923108C>A	ENST00000405460.2	+	7	849	c.753C>A	c.(751-753)tcC>tcA	p.S251S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	251					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.S251S(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTAGGAATTCCATTGAGATCA	0.343000													3	14					6.4e-05	6.86377e-05	1	1	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296600	39296600	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr17:39296600C>T	ENST00000345847.4	-	1	139	c.140G>A	c.(139-141)aGa>aAa	p.R47K		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	47	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament		p.R47K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GCACTGGGGTCTGCAGCAGCT	0.682000													4	104					0	0	1	0	0
GPN2	54707	broad.mit.edu	37	1	27216290	27216290	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr1:27216290C>T	ENST00000374135.4	-	1	498	c.298G>A	c.(298-300)Gac>Aac	p.D100N		NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	100							GTP binding	p.D100N(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						CGGAGGGGGTCGAGCTTGGCA	0.667000													16	68					0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45298004	45298004	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr1:45298004C>A	ENST00000447098.2	-	3	286	c.275G>T	c.(274-276)cGg>cTg	p.R92L	PTCH2_ENST00000372192.3_Missense_Mutation_p.R92L	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	92					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	p.R92P(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CTGGCTCACCCGGCTGCCCAC	0.607000									Basal Cell Nevus syndrome				4	178					0.000602214	0.000618943	1	1	0
VPS37B	79720	broad.mit.edu	37	12	123351949	123351949	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr12:123351949T>G	ENST00000267202.2	-	4	953	c.572A>C	c.(571-573)tAc>tCc	p.Y191S		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	191	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane		p.Y191S(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		TGGGGCAGGGTAGGGAAGGGG	0.706000													8	40					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33237497	33237497	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr1:33237497C>T	ENST00000401073.2	+	6	2787	c.2717C>T	c.(2716-2718)tCg>tTg	p.S906L	KIAA1522_ENST00000373481.3_Missense_Mutation_p.S858L|KIAA1522_ENST00000373480.1_Missense_Mutation_p.S847L|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	847	Pro-rich.							p.S906L(2)		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)				CTGGGGCCATCGGCCCCCCAG	0.721000													8	15					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106554875	106554875	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr6:106554875C>T	ENST00000369096.4	+	7	2226	c.1992C>T	c.(1990-1992)tgC>tgT	p.C664C	PRDM1_ENST00000369091.2_Silent_p.C628C|PRDM1_ENST00000369089.3_Silent_p.C530C	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	664					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GCAAGGTGTGCCCTGCCAAGT	0.547000			"""D, N, Mis, F, S"""		DLBCL								4	120					0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53012246	53012246	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr12:53012246G>A	ENST00000305748.3	-	1	97	c.63C>T	c.(61-63)tcC>tcT	p.S21S		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	21	Gly-rich.|Head.					keratin filament	structural molecule activity	p.S21S(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGAGCACAGCGGAGCAGCCGC	0.642000													26	86					0	0	1	0	0
SPRY4	81848	broad.mit.edu	37	5	141693820	141693820	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr5:141693820G>C	ENST00000344120.4	-	3	1109	c.923C>G	c.(922-924)gCa>gGa	p.A308G	SPRY4_ENST00000434127.2_Missense_Mutation_p.A285G	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	285					multicellular organismal development	cytoplasm|ruffle membrane	protein binding	p.A308G(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGCTGGCTGCTTTGCAGAT	0.627000									Testicular Cancer, Familial Clustering of				8	60					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202137390	202137390	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr2:202137390G>C	ENST00000358485.4	+	4	814	c.618G>C	c.(616-618)gaG>gaC	p.E206D	CASP8_ENST00000392258.3_Missense_Mutation_p.E147D|CASP8_ENST00000392266.3_Missense_Mutation_p.E147D|CASP8_ENST00000264274.9_Missense_Mutation_p.E147D|CASP8_ENST00000392259.2_Missense_Mutation_p.E147D|CASP8_ENST00000323492.7_Missense_Mutation_p.E147D|CASP8_ENST00000264275.5_Missense_Mutation_p.E179D|CASP8_ENST00000432109.2_Missense_Mutation_p.E147D	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	147					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.E179D(4)|p.E206D(2)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TAGAGATGGAGAAGAGGGTCA	0.398000										HNSCC(4;0.00038)			22	70					0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145838662	145838662	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr5:145838662G>A	ENST00000296702.5	+	4	692	c.654G>A	c.(652-654)caG>caA	p.Q218Q	TCERG1_ENST00000394421.2_Silent_p.Q218Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	218	Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			cccaggcccaggcccaggccc	0.731000													5	21					0	0	1	0	0
KCNMB1	3779	broad.mit.edu	37	5	169812334	169812334	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr5:169812334G>T	ENST00000274629.4	-	2	560	c.118C>A	c.(118-120)Ccc>Acc	p.P40T	KCNMB1_ENST00000521859.1_Missense_Mutation_p.P40T|KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	40					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity	p.P40T(2)		endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		TGGTAGAGGGGCAGCACAGTC	0.597000													13	107					0.00136819	0.00138694	1	1	0
PLP2	5355	broad.mit.edu	37	X	49029495	49029495	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chrX:49029495T>C	ENST00000376327.5	+	2	191	c.116T>C	c.(115-117)cTg>cCg	p.L39P	PLP2_ENST00000376322.3_Missense_Mutation_p.L39P	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	39	MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity	p.L39P(2)		endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						CTGGTGATCCTGATCTGCTTC	0.493000													6	28					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72131361	72131361	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr9:72131361C>T	ENST00000265381.4	-	2	988	c.766G>A	c.(766-768)Gcg>Acg	p.A256T		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	256	Munc-18-1 binding.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		p.A256T(2)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGGTAGGGCGCGAACTCGGCC	0.687000													7	32					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109817864	109817864	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr4:109817864C>T	ENST00000399132.1	-	16	1395	c.865G>A	c.(865-867)Gac>Aac	p.D289N	COL25A1_ENST00000399126.1_Missense_Mutation_p.D289N|COL25A1_ENST00000399127.1_Missense_Mutation_p.D285N	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	289	Collagen-like 3.					collagen|extracellular space	beta-amyloid binding|heparin binding	p.D289N(7)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TCTCCAGCGTCTCCCTGAGGA	0.393000													8	19					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32621515	32621515	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr8:32621515G>A	ENST00000338921.4	+	13	2059	c.1542G>A	c.(1540-1542)gcG>gcA	p.A514A	NRG1_ENST00000287845.5_Silent_p.A477A|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000356819.4_Silent_p.A511A|NRG1_ENST00000405005.2_Silent_p.A506A|NRG1_ENST00000539990.1_Silent_p.A349A|NRG1_ENST00000287840.5_Silent_p.A506A|NRG1_ENST00000287842.3_Silent_p.A503A|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000519301.1_Silent_p.A456A			Q02297	NRG1_HUMAN	neuregulin 1	506					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	p.A511A(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ACAACCCCGCGCATGACAGTA	0.542000													4	32					0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162740301	162740301	+	Splice_Site	SNP	A	A	G			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr1:162740301A>G	ENST00000367922.2	+	13	1941	c.1504_splice	c.e13+1	p.S501_splice	DDR2_ENST00000367921.3_Splice_Site_p.S501_splice	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	501					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.S501S(2)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			AGGAGGAGTCAGGTGAGGATG	0.527000													5	26					0	0	1	0	0
LONP1	9361	broad.mit.edu	37	19	5694505	5694505	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr19:5694505G>A	ENST00000360614.3	-	15	2370	c.2213C>T	c.(2212-2214)aCg>aTg	p.T738M	LONP1_ENST00000540670.2_Missense_Mutation_p.T542M|LONP1_ENST00000593119.1_Missense_Mutation_p.T674M|LONP1_ENST00000590729.1_Missense_Mutation_p.T608M|LONP1_ENST00000585374.1_Missense_Mutation_p.T624M	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	738					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	p.T738M(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTTCTCGGGCGTCACCTCCAC	0.647000													11	75					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6167746	6167746	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr6:6167746T>C	ENST00000264870.3	-	13	2118	c.1853A>G	c.(1852-1854)gAt>gGt	p.D618G		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	618					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.D618G(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGCCAGAACATCCCTGGTCTC	0.537000													10	35					0	0	1	0	0
HSPA5	3309	broad.mit.edu	37	9	128000573	128000573	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr9:128000573G>A	ENST00000324460.6	-	7	1452	c.1249C>T	c.(1249-1251)Ctt>Ttt	p.L417F		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	417					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	p.L417F(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	CATACATCAAGCAGTACCAGG	0.398000										Prostate(1;0.17)			11	32					0	0	1	0	0
GAGE2A	729447	broad.mit.edu	37	X	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	rs147803166	by1000genomes	TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chrX:49355893C>G	ENST00000362097.1	+	3	258	c.175C>G	c.(175-177)Cag>Gag	p.Q59E		NM_001127212.1	NP_001120684.1			G antigen 2A									p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562000													7	390					0	0	1	0	0
PAPOLA	10914	broad.mit.edu	37	14	97022682	97022682	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr14:97022682A>G	ENST00000216277.8	+	19	2156	c.1936A>G	c.(1936-1938)Ata>Gta	p.I646V	PAPOLA_ENST00000392990.2_Missense_Mutation_p.I646V	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	646					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	p.I646V(2)		breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ACCTACTCCTATAGTAGGAGT	0.398000													6	33					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146351336	146351336	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr6:146351336C>T	ENST00000392299.2	+	2	1153	c.683C>T	c.(682-684)tCt>tTt	p.S228F	GRM1_ENST00000507907.1_Missense_Mutation_p.S228F|GRM1_ENST00000492807.2_Missense_Mutation_p.S228F|GRM1_ENST00000282753.1_Missense_Mutation_p.S228F|GRM1_ENST00000361719.2_Missense_Mutation_p.S228F|GRM1_ENST00000355289.4_Missense_Mutation_p.S228F			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	228					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.S228F(4)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ACCTATGTCTCTGCAGTCCAC	0.448000													10	45					0	0	1	0	0
KAT5	10524	broad.mit.edu	37	11	65482336	65482336	+	Silent	SNP	C	C	G			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr11:65482336C>G	ENST00000341318.4	+	8	1218	c.984C>G	c.(982-984)cgC>cgG	p.R328R	KAT5_ENST00000530446.1_Silent_p.R276R|KAT5_ENST00000534650.1_Silent_p.R84R|KAT5_ENST00000377046.3_Silent_p.R295R|KAT5_ENST00000352980.4_Silent_p.R243R	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	295					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	p.R328R(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						AGATTTACCGCAAGGGCACCA	0.522000													25	66					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73047023	73047023	+	RNA	SNP	C	C	G			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chrX:73047023C>G	ENST00000604411.1	+	0	34984				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GATCATCTCACATGGCAGCCT	0.527000													18	86					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30945312	30945312	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr8:30945312T>A	ENST00000298139.5	+	12	1701	c.1452T>A	c.(1450-1452)agT>agA	p.S484R		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	484					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	p.S484R(2)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ACCTCAATAGTGGCACGGTAG	0.333000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				4	23					0	0	1	0	0
TANGO6	79613	broad.mit.edu	37	16	68941376	68941376	+	Silent	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr16:68941376G>A	ENST00000261778.1	+	10	1710	c.1698G>A	c.(1696-1698)caG>caA	p.Q566Q		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)									p.Q95Q(2)|p.Q566Q(2)									CCCTGTACCAGAAGGTATCCT	0.473000													8	76					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20370667	20370667	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr16:20370667T>C	ENST00000302451.4	-	12	1977	c.1729A>G	c.(1729-1731)Aaa>Gaa	p.K577E		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	577					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.K577E(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ACTTTTGGTTTCTTCTTTTGC	0.448000													26	164					0	0	1	0	0
NAB2	4665	broad.mit.edu	37	12	57485439	57485439	+	Silent	SNP	G	G	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr12:57485439G>C	ENST00000300131.3	+	2	993	c.615G>C	c.(613-615)tcG>tcC	p.S205S	NAB2_ENST00000357680.4_Silent_p.S205S|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Silent_p.S205S	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	205					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGGCTGGCTCGCCCCCCTTCT	0.726000													6	26					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746185	77746185	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr2:77746185C>T	ENST00000409088.3	-	3	1224	c.810G>A	c.(808-810)ccG>ccA	p.P270P	LRRTM4_ENST00000409884.1_Silent_p.P270P|LRRTM4_ENST00000409911.1_Silent_p.P271P|LRRTM4_ENST00000409093.1_Silent_p.P270P|LRRTM4_ENST00000409282.1_Silent_p.P271P	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	270						integral to membrane		p.P270P(4)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TAAATGTGCCCGGCTCAATTC	0.408000													2	2					0	0	1	0	0
AQP10	89872	broad.mit.edu	37	1	154296116	154296116	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr1:154296116C>T	ENST00000484864.1	+	5	577	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	AQP10_ENST00000324978.3_Missense_Mutation_p.R181W|AQP10_ENST00000355197.4_3'UTR			Q96PS8	AQP10_HUMAN	aquaporin 10	181					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	p.R181W(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTGGACAGACGGAACAAGGG	0.612000													31	272					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202131375	202131375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr2:202131375G>T	ENST00000358485.4	+	2	539	c.343G>T	c.(343-345)Gaa>Taa	p.E115*	CASP8_ENST00000392258.3_Nonsense_Mutation_p.E56*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.E56*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.E56*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.E56*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.E56*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.E56*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.E56*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	56	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.E56*(4)|p.E115*(2)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AATGTTGGAGGAAAGCAATCT	0.453000										HNSCC(4;0.00038)			5	26					0.000602214	0.000618943	1	1	0
OR14A16	284532	broad.mit.edu	37	1	247978972	247978972	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr1:247978972A>C	ENST00000357627.1	-	1	59	c.60T>G	c.(58-60)aaT>aaG	p.N20K		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N20K(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AAATGCACATATTTTTATTGG	0.383000													8	18					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72020908	72020908	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr15:72020908C>T	ENST00000355327.3	+	9	1512	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.R460C|THSD4_ENST00000357769.4_Missense_Mutation_p.R100C			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	460						proteinaceous extracellular matrix	metalloendopeptidase activity	p.R460C(2)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCGTTCTGGACGCTCCATCAT	0.507000													9	48					0	0	1	0	0
FAM149A	25854	broad.mit.edu	37	4	187084634	187084634	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr4:187084634C>T	ENST00000356371.5	+	10	1763	c.1763C>T	c.(1762-1764)cCg>cTg	p.P588L	FAM149A_ENST00000503432.1_Missense_Mutation_p.P297L|FAM149A_ENST00000514153.1_Missense_Mutation_p.P297L|FAM149A_ENST00000389354.5_Missense_Mutation_p.P297L|FAM149A_ENST00000502970.1_Missense_Mutation_p.P297L|FAM149A_ENST00000227065.4_Missense_Mutation_p.P297L			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	588								p.P297L(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		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;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TCCTCCGCACCGCACAGACTG	0.557000													10	59					0	0	1	0	0
NAA15	80155	broad.mit.edu	37	4	140265339	140265339	+	Splice_Site	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr4:140265339G>A	ENST00000296543.5	+	6	860		c.e6-1		NAA15_ENST00000480277.2_Splice_Site|NAA15_ENST00000398947.1_Splice_Site	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit						angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	p.?(2)		NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TCCATATACAGACATCCCCTG	0.333000													4	22					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126747837	126747837	+	Splice_Site	SNP	G	G	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr3:126747837G>A	ENST00000251772.4	+	25	4671	c.4600_splice	c.e25-1	p.E1534_splice	PLXNA1_ENST00000393409.2_Splice_Site_p.E1557_splice			Q9UIW2	PLXA1_HUMAN	plexin A1	1557					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.E1534E(2)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTCCCCCAGAGTGGCGCCAGG	0.647000													6	27					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12885289	12885289	+	Silent	SNP	G	G	T	rs148273194	by1000genomes	TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr1:12885289G>T	ENST00000535591.1	-	4	1017	c.822C>A	c.(820-822)ctC>ctA	p.L274L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	274								p.L274L(3)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCACTGGGAGAGATGCTTCA	0.458000													6	123					8.12818e-05	8.59265e-05	1	1	0
EFCAB12	90288	broad.mit.edu	37	3	129137132	129137132	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr3:129137132T>G	ENST00000505956.1	-	3	808	c.646A>C	c.(646-648)Atc>Ctc	p.I216L	EFCAB12_ENST00000326085.3_Missense_Mutation_p.I216L	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12									p.I216L(2)									TCCCTGGTGATTCTCTGGTTC	0.547000													7	26					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72344697	72344697	+	Silent	SNP	A	A	G			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr18:72344697A>G	ENST00000299687.5	+	1	1722	c.1722A>G	c.(1720-1722)gaA>gaG	p.E574E	ZNF407_ENST00000309902.6_Silent_p.E574E|ZNF407_ENST00000577538.1_Silent_p.E574E|ZNF407_ENST00000582337.1_Silent_p.E574E	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	574					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E574E(2)		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)		ACTTAGATGAACATTTGCACA	0.398000													7	112					0	0	1	0	0
PDIA3	2923	broad.mit.edu	37	15	44038800	44038800	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr15:44038800C>T	ENST00000300289.5	+	1	211	c.63C>T	c.(61-63)ctC>ctT	p.L21L	PDIA3_ENST00000469684.1_3'UTR|PDIA3_ENST00000538521.1_5'UTR	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	21					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.L21L(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		CGGCCCGCCTCGCCGCTGCCT	0.706000													12	26					0	0	1	0	0
FOXA1	3169	broad.mit.edu	37	14	38061461	38061461	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr14:38061461G>C	ENST00000250448.2	-	2	589	c.528C>G	c.(526-528)atC>atG	p.I176M	FOXA1_ENST00000540786.1_Missense_Mutation_p.I143M|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	176					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.I176M(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TGATGAGCGAGATGTACGAGT	0.657000													15	72					0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10500113	10500113	+	Silent	SNP	C	C	T			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr11:10500113C>T	ENST00000396554.3	+	3	630	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	AMPD3_ENST00000444303.2_Intron	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	88					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.L97L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GTCCCTGTCTCTGCAAATGCC	0.547000													11	229					0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10190856	10190877	+	Splice_Site	DEL	CTTAGAGCTCGGAAGGGTAAGT	CTTAGAGCTCGGAAGGGTAAGT	-	rs141707832		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:10190856_10190877delCTTAGAGCTCGGAAGGGTAAGT	ENST00000377157.3	+	13	2222_2237	c.1176_splice	c.e13+1	p.387_splice	UBE4B_ENST00000253251.8_Splice_Site_p.503_splice|UBE4B_ENST00000343090.6_Splice_Site_p.632_splice|UBE4B_ENST00000475795.1_3'UTR	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	632					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TGCAGCATTACTTAGAGCTCGGAAGGGTAAGTGTTCAGAAAA	0.423													8	260	---	---	---	---					
VPS13D	55187	broad.mit.edu	37	1	12422832	12422833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													13	734	---	---	---	---					
PRAMEF6	440561	broad.mit.edu	37	1	13109019	13109020	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:13109019_13109020insG	ENST00000376182.1	-	4	1348_1349	c.1249_1250insC	c.(1249-1251)ggafs	p.G417fs	PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000414205.2_Frame_Shift_Ins_p.G417fs			Q5VXH4	PRAM6_HUMAN	PRAME family member 6	417										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATAACTCTCCCGGGGGGCAGGA	0.520													7	368	---	---	---	---					
NBPF3	84224	broad.mit.edu	37	1	21804665	21804666	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:21804665_21804666insC	ENST00000318220.6	+	12	1901_1902	c.853_854insC	c.(853-855)cccfs	p.P285fs	NBPF3_ENST00000342104.5_Frame_Shift_Ins_p.P366fs|NBPF3_ENST00000454000.2_Frame_Shift_Ins_p.P271fs|NBPF3_ENST00000318249.5_Frame_Shift_Ins_p.P341fs			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	341	NBPF 1.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGAGGAGGAAGCCCCCCAGGAG	0.500													9	505	---	---	---	---					
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:22838561_22838563delAAG	ENST00000404138.1	+	12	2906_2908	c.2395_2397delAAG	c.(2395-2397)del	p.K803del	ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	803					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517													8	237	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5539-5544)ggggggfs	p.GG1847fs	ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.G1848fs*6(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								12	374	---	---	---	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)cccfs	p.P344fs	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515													9	518	---	---	---	---					
PUM1	9698	broad.mit.edu	37	1	31406073	31406074	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:31406073_31406074insG	ENST00000373747.3	-	22	3653_3654	c.3554_3555insC	c.(3553-3555)caafs	p.Q1185fs	PUM1_ENST00000440538.2_Frame_Shift_Ins_p.Q1158fs|PUM1_ENST00000426105.2_Frame_Shift_Ins_p.Q1184fs|PUM1_ENST00000424085.2_Frame_Shift_Ins_p.Q940fs|PUM1_ENST00000373741.4_Frame_Shift_Ins_p.Q1220fs|PUM1_ENST00000373742.2_Frame_Shift_Ins_p.Q1123fs|PUM1_ENST00000257075.5_Frame_Shift_Ins_p.Q1182fs|PUM1_ENST00000423018.2_Frame_Shift_Ins_p.Q1040fs	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1182					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TGATACCATTAGGGGGGCCACA	0.525													12	552	---	---	---	---					
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:42898878_42898879insG	ENST00000372565.3	-	7	1179_1180	c.910_911insC	c.(910-912)aaafs	p.K304fs	ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs|ZMYND12_ENST00000475426.1_5'UTR	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	304						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATGGTTTTTTGGGGGGCTTTG	0.411													7	469	---	---	---	---					
SZT2	23334	broad.mit.edu	37	1	43896326	43896327	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:43896326_43896327insG	ENST00000562955.1	+	31	4469_4470	c.4469_4470insG	c.(4468-4470)tggfs	p.W1490fs	SZT2_ENST00000372442.1_Frame_Shift_Ins_p.W648fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1547						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTCAGTATCTTGGGGGGCGACT	0.609													9	439	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)ccctatfs	p.Y118fs	FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594													15	344	---	---	---	---					
ROR1	4919	broad.mit.edu	37	1	64516358	64516359	+	Splice_Site	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:64516358_64516359insC	ENST00000371079.1	+	4	827_828	c.451_splice	c.e4-1	p.A151_splice	ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Splice_Site_p.A151_splice	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	151					transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						ATTTCTTCAGGCCCCCCTCCCA	0.396													7	572	---	---	---	---					
CACHD1	57685	broad.mit.edu	37	1	65143921	65143922	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:65143921_65143922insC	ENST00000371073.2	+	23	3172_3173	c.3172_3173insC	c.(3172-3174)cccfs	p.P1058fs	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.P1007fs			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1058					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACCCTACTGTGCCCCCCAGAAA	0.485													7	128	---	---	---	---					
JAK1	3716	broad.mit.edu	37	1	65325832	65325833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:65325832_65325833insG	ENST00000342505.4	-	9	1537_1538	c.1289_1290insC	c.(1288-1290)cttfs	p.L430fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	430					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GGACGATCAACGGGGGGGCCAC	0.540			Mis		ALL								8	218	---	---	---	---					
CLCA2	9635	broad.mit.edu	37	1	86921042	86921043	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:86921042_86921043insC	ENST00000370565.4	+	14	2826_2827	c.2664_2665insC	c.(2662-2667)atccccfs	p.IP888fs		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	888					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CTCTGTTTATTCCCCCCAATTC	0.396													7	240	---	---	---	---					
OLFML3	56944	broad.mit.edu	37	1	114523958	114523959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:114523958_114523959insC	ENST00000369551.1	+	4	1016_1017	c.728_729insC	c.(727-729)accfs	p.T243fs	OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.T243fs|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000320334.4_Frame_Shift_Ins_p.T263fs			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	263	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGGGCTGATCCCCCCCTACG	0.559													10	278	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1254)tccfs	p.S418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAGGTTTGCCCCCCGCCAG	0.500													7	593	---	---	---	---					
OTUD7B	56957	broad.mit.edu	37	1	149915983	149915984	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:149915983_149915984insG	ENST00000369135.3	-	12	2598_2599	c.2304_2305insC	c.(2302-2307)ccaccgfs	p.P769fs		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	769					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GCCACTCGGTAGGGGGGTGGTA	0.609													8	127	---	---	---	---					
C1orf51	148523	broad.mit.edu	37	1	150259011	150259012	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:150259011_150259012insC	ENST00000290363.5	+	5	1252_1253	c.803_804insC	c.(802-804)accfs	p.T268fs	C1orf51_ENST00000369095.1_Frame_Shift_Ins_p.T268fs|C1orf51_ENST00000369094.1_Frame_Shift_Ins_p.T180fs	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	268										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAATTTGCAACCCCCCTCTCA	0.520													9	890	---	---	---	---					
TARS2	80222	broad.mit.edu	37	1	150477198	150477199	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:150477198_150477199insG	ENST00000369064.3	+	15	1843_1844	c.1809_1810insG	c.(1807-1812)tgggggfs	p.WG603fs	TARS2_ENST00000369054.2_Frame_Shift_Ins_p.WG473fs|TARS2_ENST00000606933.1_Frame_Shift_Ins_p.WG521fs	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	603					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	p.C603C(2)|p.G604W(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CAGAAAGCTGCGGGGGGAAATG	0.569													7	635	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cagcfs	p.HS1901fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901							calcium ion binding|structural molecule activity	p.H1901fs*30(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515													12	1547	---	---	---	---					
PGLYRP4	57115	broad.mit.edu	37	1	153317810	153317811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:153317810_153317811insC	ENST00000368739.3	-	4	533_534	c.175_176insG	c.(175-177)agafs	p.R59fs	PGLYRP4_ENST00000490266.1_5'UTR|PGLYRP4_ENST00000359650.5_Frame_Shift_Ins_p.R63fs			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	63					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACAGCTTCTGCCCCCCATGCC	0.589													9	1148	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154246356	154246357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:154246356_154246357insG	ENST00000328703.7	+	3	636_637	c.423_424insG	c.(421-426)ttggggfs	p.LG141fs	HAX1_ENST00000483970.2_Frame_Shift_Ins_p.LG149fs|HAX1_ENST00000532105.1_Frame_Shift_Ins_p.LG13fs|HAX1_ENST00000457918.2_Frame_Shift_Ins_p.LG93fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	141	Involved in HCLS1 binding.		F -> L (in SCN3; mild form).			actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGGATCTTTGGGGGGGTCTT	0.554									Kostmann syndrome				10	297	---	---	---	---					
TDRD10	126668	broad.mit.edu	37	1	154493907	154493908	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:154493907_154493908insC	ENST00000368482.4	+	6	1159_1160	c.321_322insC	c.(319-324)agccccfs	p.SP107fs	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Frame_Shift_Ins_p.SP107fs	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	107	RRM.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAAGCAAAAGGCCCCCCAAGAG	0.520													10	694	---	---	---	---					
FAM189B	10712	broad.mit.edu	37	1	155221332	155221333	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:155221332_155221333insG	ENST00000361361.2	-	7	1363_1364	c.854_855insC	c.(853-855)ctcfs	p.L285fs	FAM189B_ENST00000350210.2_Frame_Shift_Ins_p.L189fs|FAM189B_ENST00000472550.1_5'UTR|FAM189B_ENST00000368368.3_Frame_Shift_Ins_p.L267fs	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	285						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						CCTCATAAGAAGGGGGGCAATC	0.569													7	398	---	---	---	---					
ASH1L	55870	broad.mit.edu	37	1	155491185	155491186	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:155491185_155491186insT	ENST00000368346.3	-	2	764_765	c.125_126insA	c.(124-126)aacfs	p.N42fs	ASH1L_ENST00000548830.1_Frame_Shift_Ins_p.N42fs|ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.N42fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	42					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCTCCTTTGTGTTTTTTTCTAG	0.431													9	2148	---	---	---	---					
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:156708444_156708445insG	ENST00000368211.4	-	2	190_191	c.52_53insC	c.(52-54)ttafs	p.L18fs	MRPL24_ENST00000361531.2_Frame_Shift_Ins_p.L18fs	NM_024540.3|NM_145729.2	NP_078816.2|NP_663781.1	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													7	117	---	---	---	---					
OR10Z1	128368	broad.mit.edu	37	1	158576486	158576487	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:158576486_158576487insG	ENST00000361284.1	+	1	258_259	c.258_259insG	c.(256-261)gcggggfs	p.AG86fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTGGCCTGGCTGGGGGGGACCA	0.554													38	1642	---	---	---	---					
ARHGAP30	257106	broad.mit.edu	37	1	161017984	161017985	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:161017984_161017985insG	ENST00000368013.3	-	12	3146_3147	c.2826_2827insC	c.(2824-2829)ccagccfs	p.A943fs	ARHGAP30_ENST00000368016.3_Frame_Shift_Ins_p.A732fs|ARHGAP30_ENST00000368015.1_Frame_Shift_Ins_p.A766fs	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	943					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AACTGTGGCTTGGGGGGCACCA	0.599													8	241	---	---	---	---					
TNN	63923	broad.mit.edu	37	1	175096158	175096159	+	Frame_Shift_Ins	INS	-	-	C	rs59588723	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:175096158_175096159insC	ENST00000239462.4	+	13	3095_3096	c.2982_2983insC	c.(2980-2985)acccccfs	p.TP994fs		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	994	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGACCTGGACGCCCCCCTCTGC	0.505													8	707	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176762723	176762724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:176762723_176762724insC	ENST00000367662.3	+	20	6212_6213	c.5048_5049insC	c.(5047-5049)accfs	p.T1683fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1683	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGTGTGTAATCCCCCCCAGTG	0.470													33	664	---	---	---	---					
FAM129A	116496	broad.mit.edu	37	1	184764537	184764538	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:184764537_184764538insC	ENST00000367511.3	-	14	2553_2554	c.2360_2361insG	c.(2359-2361)gttfs	p.V787fs	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	787	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CCTCTGGAAATCCCCCCAACTC	0.668													9	554	---	---	---	---					
NAV1	89796	broad.mit.edu	37	1	201779175	201779176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:201779175_201779176insC	ENST00000367296.4	+	23	4923_4924	c.4503_4504insC	c.(4501-4506)gaccccfs	p.DP1501fs	NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1501					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGATGCAGAGCCCCCCGAGAT	0.525													11	667	---	---	---	---					
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-255)accfs	p.T85fs	ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAAA	0.480													17	319	---	---	---	---					
GOLT1A	127845	broad.mit.edu	37	1	204170835	204170836	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													10	867	---	---	---	---					
DIEXF	27042	broad.mit.edu	37	1	210014266	210014267	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:210014266_210014267insC	ENST00000491415.2	+	8	1408_1409	c.1351_1352insC	c.(1351-1353)cccfs	p.P451fs		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	451					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CCTCATTGCTTCCCCCCTGGGC	0.465													11	472	---	---	---	---					
HHAT	55733	broad.mit.edu	37	1	210560848	210560849	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:210560848_210560849insG	ENST00000367010.1	+	4	423_424	c.196_197insG	c.(196-198)gggfs	p.G66fs	HHAT_ENST00000545781.1_Frame_Shift_Ins_p.G3fs|HHAT_ENST00000545154.1_Frame_Shift_Ins_p.G67fs|HHAT_ENST00000391905.3_Frame_Shift_Ins_p.G66fs|HHAT_ENST00000537898.1_Frame_Shift_Ins_p.G66fs|HHAT_ENST00000308852.6_Frame_Shift_Ins_p.G21fs|HHAT_ENST00000261458.3_Frame_Shift_Ins_p.G66fs|HHAT_ENST00000541565.1_Frame_Shift_Ins_p.G66fs|HHAT_ENST00000413764.2_Frame_Shift_Ins_p.G66fs	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	66					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CTGGATGGAATGGGGGAAGCAG	0.465													7	608	---	---	---	---					
HHAT	55733	broad.mit.edu	37	1	210796965	210796966	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:210796965_210796966insG	ENST00000367010.1	+	11	1568_1569	c.1341_1342insG	c.(1339-1344)ctggggfs	p.LG447fs	HHAT_ENST00000545781.1_Frame_Shift_Ins_p.LG384fs|HHAT_ENST00000545154.1_Frame_Shift_Ins_p.LG448fs|HHAT_ENST00000391905.3_Frame_Shift_Ins_p.LG447fs|HHAT_ENST00000537898.1_Frame_Shift_Ins_p.LG382fs|HHAT_ENST00000308852.6_Frame_Shift_Ins_p.LG402fs|HHAT_ENST00000261458.3_Frame_Shift_Ins_p.LG447fs|HHAT_ENST00000541565.1_Frame_Shift_Ins_p.LG310fs|HHAT_ENST00000367009.1_Frame_Shift_Ins_p.LG137fs|HHAT_ENST00000413764.2_Frame_Shift_Ins_p.LG447fs	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	447					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	p.G448W(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TGGTATTTCTTGGGGGCAATGA	0.490													7	1418	---	---	---	---					
PROX1	5629	broad.mit.edu	37	1	214170285	214170286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:214170285_214170286insC	ENST00000366958.4	+	2	1015_1016	c.407_408insC	c.(406-408)accfs	p.T136fs	PROX1_ENST00000261454.4_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000498508.2_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000435016.1_Frame_Shift_Ins_p.T136fs	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	136					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCAAGAGACAGCCCCCCAGAGT	0.530													8	547	---	---	---	---					
USH2A	7399	broad.mit.edu	37	1	215821895	215821896	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:215821895_215821896insG	ENST00000366943.2	-	66	14942_14943	c.14556_14557insC	c.(14554-14559)cctgttfs	p.V4853fs	USH2A_ENST00000307340.3_Frame_Shift_Ins_p.V4853fs			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4853	Fibronectin type-III 34.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGGGGAACATGGGGGGACTCC	0.540										HNSCC(13;0.011)			8	640	---	---	---	---					
TRIM17	51127	broad.mit.edu	37	1	228596934	228596935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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_ENST00000366698.2_Frame_Shift_Ins_p.H274fs|TRIM17_ENST00000295033.3_Frame_Shift_Ins_p.H274fs|RP11-245P10.4_ENST00000436779.1_RNA			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	274					protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TGGGTCTGGTTGGGGGGGCAAC	0.579													10	178	---	---	---	---					
ACTA1	58	broad.mit.edu	37	1	229567546	229567547	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:229567546_229567547insC	ENST00000366684.3	-	6	1013_1014	c.911_912insG	c.(910-912)gacfs	p.D304fs	ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.D216fs	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	304					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	ACATCGTGGTGCCCCCCGACAT	0.589													7	237	---	---	---	---					
SIPA1L2	57568	broad.mit.edu	37	1	232650637	232650638	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													9	878	---	---	---	---					
LINC00152	112597	broad.mit.edu	37	2	87865524	87865525	+	RNA	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr2:87865524_87865525insC	ENST00000409054.1	+	0	278					NR_015395.1																						AAAATAAATTTCCCCCCAGAAC	0.455													8	449	---	---	---	---					
IL1R2	7850	broad.mit.edu	37	2	102638681	102638682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr2:102638681_102638682insC	ENST00000332549.3	+	6	950_951	c.721_722insC	c.(721-723)cccfs	p.P241fs	IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.P241fs|IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.P241fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	241	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TGTGATCATTTCCCCCCTCAAG	0.490													11	531	---	---	---	---					
AC012363.13	0	broad.mit.edu	37	2	121080855	121080856	+	RNA	INS	-	-	TT			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr2:121080855_121080856insTT	ENST00000437837.1	+	0	132																											CAATGTCAGACTTTTTGAAAAG	0.480													2	4	---	---	---	---					
UGGT1	56886	broad.mit.edu	37	2	128867246	128867247	+	Frame_Shift_Ins	INS	-	-	T	rs138042550		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr2:128867246_128867247insT	ENST00000375990.3	+	5	778_779	c.375_376insT	c.(373-378)tcttttfs	p.SF125fs	UGGT1_ENST00000259253.6_Frame_Shift_Ins_p.SF149fs			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	149					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GATGTAATTCGTTTTTTTCAGT	0.371													7	297	---	---	---	---					
MAP3K19	80122	broad.mit.edu	37	2	135740765	135740766	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr2:135740765_135740766insC	ENST00000392915.1	-	9	3528_3529	c.3409_3410insG	c.(3409-3411)gggfs	p.G1137fs	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375845.3_Intron|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR					mitogen-activated protein kinase kinase kinase 19																		ttcatcgcccaccccCCAAGAT	0.376													7	236	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2053-2058)acggggfs	p.TG685fs	XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	510					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATGT	0.421													12	281	---	---	---	---					
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr2:171240258_171240259insC	ENST00000334231.6	+	12	1251_1252	c.1251_1252insC	c.(1249-1254)aaccccfs	p.NP417fs	MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	408	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465													16	268	---	---	---	---					
OSBPL6	114880	broad.mit.edu	37	2	179196280	179196281	+	Splice_Site	INS	-	-	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr2:179196280_179196281insT	ENST00000190611.4	+	6	696_697	c.318_splice	c.e6-1	p.L107_splice	OSBPL6_ENST00000409631.1_Splice_Site_p.L107_splice|OSBPL6_ENST00000409045.3_Splice_Site_p.L107_splice|OSBPL6_ENST00000392505.2_Splice_Site_p.L107_splice|OSBPL6_ENST00000359685.3_Splice_Site_p.L107_splice|OSBPL6_ENST00000357080.4_Splice_Site_p.L107_splice|OSBPL6_ENST00000477097.1_3'UTR|OSBPL6_ENST00000315022.2_Splice_Site_p.L86_splice	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	107	PH.				lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTCTTGCAGCGTTTTTTTGTCC	0.361													7	337	---	---	---	---					
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cctfs	p.P206fs	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619													11	240	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)gggfs	p.G559fs	ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GACTATTTCAAGGGGGGGACTG	0.431													10	688	---	---	---	---					
RQCD1	9125	broad.mit.edu	37	2	219449363	219449364	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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_ENST00000509807.2_Frame_Shift_Ins_p.F117fs|RQCD1_ENST00000542068.1_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	609	---	---	---	---					
SETD5	55209	broad.mit.edu	37	3	9517294	9517295	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr3:9517294_9517295insC	ENST00000402466.1	+	24	4322_4323	c.3554_3555insC	c.(3553-3555)accfs	p.T1185fs	SETD5_ENST00000302463.6_Frame_Shift_Ins_p.T1185fs|SETD5_ENST00000407969.1_Frame_Shift_Ins_p.T1302fs|SETD5_ENST00000402198.1_Frame_Shift_Ins_p.T1283fs|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													7	234	---	---	---	---					
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs146316187		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr3:10088407_10088410delAGTA	ENST00000287647.3	+	15	1371	c.1278_splice	c.e15+1	p.426_splice	FANCD2_ENST00000419585.1_Splice_Site_p.426_splice|FANCD2_ENST00000383806.1_Splice_Site_p.426_splice|FANCD2_ENST00000383807.1_Splice_Site_p.426_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				10	70	---	---	---	---					
THRB	7068	broad.mit.edu	37	3	24164402	24164403	+	Frame_Shift_Ins	INS	-	-	G	rs121918687		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr3:24164402_24164403insG	ENST00000396671.2	-	11	1706_1707	c.1358_1359insC	c.(1357-1359)cttfs	p.L453fs	THRB_ENST00000416420.1_Frame_Shift_Ins_p.L453fs|THRB_ENST00000356447.4_Frame_Shift_Ins_p.L453fs|THRB_ENST00000280696.5_Frame_Shift_Ins_p.L468fs	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	453	Interaction with NR2F6.|Ligand-binding.		P -> H (in GTHR).|P -> L (in GTHR).|P -> S (in GTHR).|P -> T (in GTHR; dbSNP:rs28933408).		regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	CCAAGAACAAAGGGGGGAAGAG	0.480													7	233	---	---	---	---					
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(124-129)ttggggfs	p.LG42fs	KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000479470.1_3'UTR	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	42	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465													11	357	---	---	---	---					
ADAMTS9	56999	broad.mit.edu	37	3	64532502	64532503	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr3:64532502_64532503insG	ENST00000498707.1	-	32	5337_5338	c.4995_4996insC	c.(4993-4998)ccgtgtfs	p.C1666fs	ADAMTS9_ENST00000295903.4_Frame_Shift_Ins_p.C1638fs	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1666	TSP type-1 14.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GGGTGAACACTGGGGGGCTGCG	0.535													9	252	---	---	---	---					
OR5H1	26341	broad.mit.edu	37	3	97851841	97851842	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr3:97851841_97851842insT	ENST00000354565.2	+	1	300_301	c.300_301insT	c.(298-303)cattttfs	p.HF100fs	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GCAAGATACAGTTTTTTTCGTT	0.396													9	757	---	---	---	---					
IGSF11	152404	broad.mit.edu	37	3	118623579	118623580	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr3:118623579_118623580insA	ENST00000354673.2	-	8	1146_1147	c.766_767insT	c.(766-768)catfs	p.H256fs	IGSF11_ENST00000489689.1_Frame_Shift_Ins_p.H233fs|IGSF11_ENST00000491903.1_Intron|IGSF11_ENST00000425327.2_Frame_Shift_Ins_p.H256fs|IGSF11_ENST00000441144.2_Frame_Shift_Ins_p.H232fs|IGSF11_ENST00000393775.2_Frame_Shift_Ins_p.H257fs	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	257					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	p.C256fs*17(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TAGTGCAATGCAAAAAATGATA	0.347													8	532	---	---	---	---					
MUC13	56667	broad.mit.edu	37	3	124646676	124646677	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr3:124646676_124646677insG	ENST00000311075.3	-	2	251_252	c.213_214insC	c.(211-216)cctaatfs	p.N72fs		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	72	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GTACTAATTATGGGGGGAGCAG	0.460													8	967	---	---	---	---					
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr3:141535707_141535708insG	ENST00000264952.2	+	4	1614_1615	c.1477_1478insG	c.(1477-1479)gggfs	p.G493fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	493	AGC-kinase C-terminal.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.R493L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTGAGGTTCGGGGGGTGGAA	0.460													8	712	---	---	---	---					
SAMD7	344658	broad.mit.edu	37	3	169646267	169646268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr3:169646267_169646268insG	ENST00000428432.2	+	7	1331_1332	c.942_943insG	c.(940-945)atggggfs	p.MG314fs	SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	314										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGGTTACAATTGGGGGGAATCT	0.381													10	444	---	---	---	---					
PHC3	80012	broad.mit.edu	37	3	169890470	169890471	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr3:169890470_169890471insG	ENST00000494943.1	-	3	242_243	c.174_175insC	c.(172-177)ccgctcfs	p.L59fs	PHC3_ENST00000467570.1_Frame_Shift_Ins_p.L71fs|PHC3_ENST00000497658.1_Frame_Shift_Ins_p.L71fs|PHC3_ENST00000495893.1_Frame_Shift_Ins_p.L71fs|PHC3_ENST00000474275.1_Frame_Shift_Ins_p.L55fs|PHC3_ENST00000481639.1_Frame_Shift_Ins_p.L67fs			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	59					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GCAGCTGAGCTGGGGGGCCGAT	0.441													8	430	---	---	---	---					
LAMP3	27074	broad.mit.edu	37	3	182872079	182872079	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr3:182872079delT	ENST00000265598.3	-	2	405	c.150delA	c.(148-150)aafs	p.K50fs	LAMP3_ENST00000466939.1_Frame_Shift_Del_p.K26fs	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	50					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GCTGGACAGGTTTTTTTATGT	0.423													7	517	---	---	---	---					
ABCC5	10057	broad.mit.edu	37	3	183700629	183700630	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													7	285	---	---	---	---					
KIAA0226	9711	broad.mit.edu	37	3	197427914	197427915	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr3:197427914_197427915insG	ENST00000273582.5	-	7	1195_1196	c.650_651insC	c.(649-651)cgtfs	p.R217fs	KIAA0226_ENST00000296343.5_Frame_Shift_Ins_p.R277fs|KIAA0226_ENST00000389665.5_Frame_Shift_Ins_p.R277fs|KIAA0226_ENST00000449205.1_Frame_Shift_Ins_p.R277fs	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	277	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		AGACTGAAACTGGGGGGGCTTG	0.554													11	94	---	---	---	---					
LGI2	55203	broad.mit.edu	37	4	25005320	25005321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													9	366	---	---	---	---					
ABCG2	9429	broad.mit.edu	37	4	89052270	89052271	+	Frame_Shift_Ins	INS	-	-	T	rs150450599	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr4:89052270_89052271insT	ENST00000237612.3	-	5	1018_1019	c.473_474insA	c.(472-474)agafs	p.R158fs	ABCG2_ENST00000515655.1_Frame_Shift_Ins_p.R158fs	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	158	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TAATCCGTTCGTTTTTTTCATG	0.426													10	1118	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													11	407	---	---	---	---					
EGF	1950	broad.mit.edu	37	4	110920983	110920984	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr4:110920983_110920984insG	ENST00000265171.5	+	21	3599_3600	c.3154_3155insG	c.(3154-3156)gggfs	p.G1052fs	EGF_ENST00000503392.1_Frame_Shift_Ins_p.G1011fs|EGF_ENST00000509793.1_Frame_Shift_Ins_p.G1010fs	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1052					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CCTGAGCCTGTGGGGGGCCCAC	0.584													8	508	---	---	---	---					
GAB1	2549	broad.mit.edu	37	4	144381536	144381537	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr4:144381536_144381537insC	ENST00000262995.4	+	9	2216_2217	c.1789_1790insC	c.(1789-1791)cccfs	p.P597fs	GAB1_ENST00000262994.4_Frame_Shift_Ins_p.P567fs|GAB1_ENST00000505913.1_Frame_Shift_Ins_p.P464fs	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	567					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GTTTCCCATGTCCCCCCGACCA	0.406													7	409	---	---	---	---					
FGG	2266	broad.mit.edu	37	4	155526058	155526059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr4:155526058_155526059insC	ENST00000404648.3	-	9	1528_1529	c.1289_1290insG	c.(1288-1290)ggcfs	p.G430fs	FGG_ENST00000336098.3_Frame_Shift_Ins_p.G430fs|FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	430	Platelet aggregation and Staphylococcus clumping.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CCTGTTTGGCTCCCCCCAGGTG	0.450													8	540	---	---	---	---					
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													11	276	---	---	---	---					
MTRR	4552	broad.mit.edu	37	5	7875405	7875406	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr5:7875405_7875406insG	ENST00000264668.2	+	4	429_430	c.399_400insG	c.(397-402)aaggggfs	p.KG133fs	MTRR_ENST00000341013.6_Frame_Shift_Ins_p.R55fs|MTRR_ENST00000440940.2_Frame_Shift_Ins_p.KG106fs|MTRR_ENST00000502509.1_3'UTR	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	133	Flavodoxin-like.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	ACTTTTGCAATGGGGGGAAGAT	0.406													7	496	---	---	---	---					
DNAH5	1767	broad.mit.edu	37	5	13830839	13830840	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr5:13830839_13830840insC	ENST00000265104.4	-	36	6031_6032	c.5927_5928insG	c.(5926-5928)ggcfs	p.G1976fs		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1976	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G1976E(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGCAGGGGCTCCCCCCATGCT	0.515									Kartagener syndrome				8	337	---	---	---	---					
CARD6	84674	broad.mit.edu	37	5	40853093	40853094	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr5:40853093_40853094insT	ENST00000254691.5	+	3	1858_1859	c.1659_1660insT	c.(1657-1662)gtttttfs	p.VF553fs	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	553					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CTTCAGCTGTGTTTTTTTTCAC	0.416													9	450	---	---	---	---					
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggctcfs	p.L277fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376													11	241	---	---	---	---					
MOCS2	4338	broad.mit.edu	37	5	52402939	52402940	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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_ENST00000450852.3_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000396954.3_Frame_Shift_Ins_p.L22fs|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													8	312	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71490419	71490420	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr5:71490419_71490420insA	ENST00000296755.7	+	5	1535_1536	c.1237_1238insA	c.(1237-1239)aaafs	p.K413fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	413						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)		CATTCTTTTCCAAAAAATGGGA	0.401													8	850	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													9	368	---	---	---	---					
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)taafs	p.*294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366													15	200	---	---	---	---					
DMXL1	1657	broad.mit.edu	37	5	118525523	118525524	+	Frame_Shift_Ins	INS	-	-	G	rs17144964	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr5:118525523_118525524insG	ENST00000311085.8	+	29	7336_7337	c.7256_7257insG	c.(7255-7257)ggtfs	p.G2419fs	DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.G2419fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2419										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GAGTCACTGGCGGTTAAAGAAA	0.421													12	586	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C	rs151053868		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)ggttacfs	p.Y2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421													14	444	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127627258	127627259	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr5:127627258_127627259insG	ENST00000508053.1	-	55	7228_7229	c.6254_6255insC	c.(6253-6255)cggfs	p.R2085fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R2085fs			P35556	FBN2_HUMAN	fibrillin 2	2085	EGF-like 35; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GTACAAAGCCAGGGGGGCAGAG	0.431													7	484	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													10	1324	---	---	---	---					
FSTL4	23105	broad.mit.edu	37	5	132534946	132534947	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr5:132534946_132534947insC	ENST00000265342.7	-	16	2618_2619	c.2369_2370insG	c.(2368-2370)gacfs	p.D790fs	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	790						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCTGTGGGTACCCCCCCAGGG	0.599													7	86	---	---	---	---					
TCF7	6932	broad.mit.edu	37	5	133451679	133451680	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr5:133451679_133451680insC	ENST00000395029.1	+	3	591_592	c.396_397insC	c.(394-399)ccccccfs	p.PP132fs	TCF7_ENST00000342854.5_Frame_Shift_Ins_p.PP132fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.PP132fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.PP17fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.PP132fs|TCF7_ENST00000518915.1_Frame_Shift_Ins_p.PP17fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.PP17fs|TCF7_ENST00000378560.4_Frame_Shift_Ins_p.PP17fs|TCF7_ENST00000321584.4_Frame_Shift_Ins_p.PP132fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.PP17fs			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	132					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCATTACCCACCCCCCTCGGG	0.644													2	4	---	---	---	---					
TMCO6	55374	broad.mit.edu	37	5	140022171	140022172	+	Splice_Site	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr5:140022171_140022172insC	ENST00000394671.3	+	6	705_706	c.603_splice	c.e6-1	p.P202_splice	TMCO6_ENST00000537378.1_5'UTR|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Splice_Site_p.P202_splice	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	202					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACTTCCAGTCCCCCCATGTG	0.535													11	348	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)ggggatfs	p.D763fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCTGGATCCTCCCCCCAGCGA	0.579													11	611	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141051692	141051693	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr5:141051692_141051693insC	ENST00000239440.4	-	10	1626_1627	c.1561_1562insG	c.(1561-1563)ggtfs	p.G521fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.G183fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.G443fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	521	Arf-GAP.				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						GCAGATGACCACCCCCAAATTG	0.609													8	1719	---	---	---	---					
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr5:141336747_141336748insG	ENST00000231484.3	-	1	1879_1880	c.669_670insC	c.(667-672)ccagtcfs	p.V224fs		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	224	Cadherin 2.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTCC	0.480													19	330	---	---	---	---					
ARHGAP26	23092	broad.mit.edu	37	5	142586762	142586763	+	Splice_Site	INS	-	-	C	rs144777273		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr5:142586762_142586763insC	ENST00000378004.3	+	21	2343_2344		c.e21-1		ARHGAP26_ENST00000486650.1_Intron|ARHGAP26_ENST00000274498.4_Splice_Site	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26						actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGTCTTGCAGCCCCCCGAATC	0.579													8	423	---	---	---	---					
LARS	51520	broad.mit.edu	37	5	145523013	145523014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr5:145523013_145523014insC	ENST00000394434.2	-	19	2004_2005	c.1838_1839insG	c.(1837-1839)gaafs	p.E613fs	LARS_ENST00000545646.1_Frame_Shift_Ins_p.E567fs|LARS_ENST00000274562.9_Frame_Shift_Ins_p.E586fs|LARS_ENST00000510191.1_Frame_Shift_Ins_p.E559fs	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	613					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CATGCAAGTTACCCCCCTGCAA	0.450													8	1348	---	---	---	---					
PPP2R2B	5521	broad.mit.edu	37	5	146080638	146080639	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr5:146080638_146080639insC	ENST00000394413.3	-	2	707_708	c.137_138insG	c.(136-138)gcgfs	p.A46fs	PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.A104fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.A52fs|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.A46fs|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.A35fs|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.A46fs|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.A46fs|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.A35fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.A112fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.A49fs			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	46					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)			TTACAACCCGACCCCCCTTGTC	0.436													7	744	---	---	---	---					
FAT2	2196	broad.mit.edu	37	5	150924483	150924484	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr5:150924483_150924484insG	ENST00000261800.5	-	9	6216_6217	c.6204_6205insC	c.(6202-6207)ccaattfs	p.I2069fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2069	Cadherin 17.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCTTAAATTTGGGGGGATTGT	0.505													7	314	---	---	---	---					
FNDC9	408263	broad.mit.edu	37	5	156769909	156769910	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr5:156769909_156769910insC	ENST00000312349.4	-	2	822_823	c.635_636insG	c.(634-636)gggfs	p.G212fs	CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000521420.1_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	212						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GTGGGTCACCACCCCCCCTCTG	0.584											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	172	---	---	---	---					
ADAM19	8728	broad.mit.edu	37	5	156915296	156915297	+	Frame_Shift_Ins	INS	-	-	G	rs11466804	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr5:156915296_156915297insG	ENST00000257527.4	-	21	2604_2605	c.2526_2527insC	c.(2524-2529)cccaccfs	p.T843fs	ADAM19_ENST00000517905.1_Frame_Shift_Ins_p.T843fs|ADAM19_ENST00000394020.1_Frame_Shift_Ins_p.T845fs|ADAM19_ENST00000430702.2_Frame_Shift_Ins_p.T576fs	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	843					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAATTTGGTGCGGGGGGAATTG	0.564													11	358	---	---	---	---					
STK10	6793	broad.mit.edu	37	5	171517344	171517345	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr5:171517344_171517345insT	ENST00000176763.5	-	10	1919_1920	c.1576_1577insA	c.(1576-1578)cctfs	p.P526fs		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	526							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGCTTGAGGGTTTTTTTGTAC	0.515													7	1012	---	---	---	---					
EXOC2	55770	broad.mit.edu	37	6	637793	637794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr6:637793_637794insG	ENST00000230449.4	-	2	160_161	c.25_26insC	c.(25-27)tgtfs	p.C9fs	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	9	IPT/TIG.				exocytosis|protein transport			p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GCCGGTCACAAGGGGGGGTTGT	0.485													13	384	---	---	---	---					
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Frame_Shift_Ins	INS	-	-	C	rs55808116		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr6:10557409_10557410insC	ENST00000316170.3	+	1	1170_1171	c.753_754insC	c.(751-756)ccccccfs	p.PP251fs	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000495262.1_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													17	392	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs			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													19	260	---	---	---	---					
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)agcfs	p.S324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411													23	1510	---	---	---	---					
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr6:29627216_29627217insC	ENST00000376894.4	+	2	327_328	c.209_210insC	c.(208-210)cccfs	p.P70fs	MOG_ENST00000483013.1_Intron|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000490427.1_Intron|MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	70	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		p.F73fs*29(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGGTGGTACCGCCCCCCCTTCT	0.569													16	328	---	---	---	---					
BAG6	7917	broad.mit.edu	37	6	31608920	31608921	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr6:31608920_31608921insC	ENST00000404765.2	-	20	3036_3037	c.2747_2748insG	c.(2746-2748)gcafs	p.A916fs	BAG6_ENST00000439687.2_Frame_Shift_Ins_p.A754fs|BAG6_ENST00000362049.6_Frame_Shift_Ins_p.A880fs|BAG6_ENST00000375964.6_Frame_Shift_Ins_p.A886fs|BAG6_ENST00000375976.4_Frame_Shift_Ins_p.A880fs|BAG6_ENST00000211379.5_Frame_Shift_Ins_p.A880fs			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	886					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CCATCTGCTGTCCCCCCAAGCA	0.515													7	470	---	---	---	---					
C6orf25	80739	broad.mit.edu	37	6	31692528	31692529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr6:31692528_31692529insC	ENST00000375809.3	+	5	558_559	c.547_548insC	c.(547-549)cccfs	p.P183fs	C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000480039.1_Intron	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TTCAGCTCTGTCCCCCCCACAT	0.579													9	402	---	---	---	---					
VPS52	6293	broad.mit.edu	37	6	33219719	33219720	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr6:33219719_33219720insG	ENST00000445902.2	-	18	2041_2042	c.1823_1824insC	c.(1822-1824)cttfs	p.L608fs	HCG25_ENST00000427196.1_RNA|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR|HCG25_ENST00000450514.1_RNA|VPS52_ENST00000436044.2_Frame_Shift_Ins_p.L483fs	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	608					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AACCCCCAAAAGGGGGAGACAG	0.480													34	199	---	---	---	---					
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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				26	307	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr6:55039410_55039411insC	ENST00000370862.3	+	1	361_362	c.25_26insC	c.(25-27)cccfs	p.P9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTGT	0.564													7	229	---	---	---	---					
TBX18	9096	broad.mit.edu	37	6	85446743	85446744	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr6:85446743_85446744insG	ENST00000369663.5	-	8	1820_1821	c.1483_1484insC	c.(1483-1485)gctfs	p.A495fs	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	495					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		ATACTGGAGCTGGGGGGACATT	0.535													7	426	---	---	---	---					
SCML4	256380	broad.mit.edu	37	6	108076790	108076791	+	Frame_Shift_Ins	INS	-	-	G	rs75302347		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr6:108076790_108076791insG	ENST00000369021.3	-	1	52_53	c.53_54insC	c.(52-54)cttfs	p.L18fs	SCML4_ENST00000369020.3_Intron|SCML4_ENST00000369022.2_Intron			Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		TCCAGTGGAATGGGGGGGTTCT	0.480													10	294	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													9	537	---	---	---	---					
ETV1	2115	broad.mit.edu	37	7	13975472	13975473	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr7:13975472_13975473insG	ENST00000343495.5	-	7	1098_1099	c.360_361insC	c.(358-363)cccaccfs	p.T121fs	ETV1_ENST00000399357.3_Intron|ETV1_ENST00000420159.2_Frame_Shift_Ins_p.T81fs|ETV1_ENST00000403527.1_Frame_Shift_Ins_p.T99fs|ETV1_ENST00000405218.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000405192.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000242066.5_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000430479.1_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405358.4_Frame_Shift_Ins_p.T153fs|ETV1_ENST00000403685.1_Frame_Shift_Ins_p.T121fs			P50549	ETV1_HUMAN	ets variant 1	139					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTGGATGGTGTGGGGGGGTTGG	0.530			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								8	129	---	---	---	---					
NUPL2	11097	broad.mit.edu	37	7	23224772	23224773	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													10	167	---	---	---	---					
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-378)accfs	p.T126fs	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_5'UTR|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446													13	280	---	---	---	---					
HEPACAM2	253012	broad.mit.edu	37	7	92838073	92838074	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr7:92838073_92838074insG	ENST00000394468.2	-	4	908_909	c.831_832insC	c.(829-834)ccacacfs	p.H278fs	HEPACAM2_ENST00000440868.1_Frame_Shift_Ins_p.H266fs|HEPACAM2_ENST00000453812.2_Frame_Shift_Ins_p.H301fs|HEPACAM2_ENST00000341723.4_Frame_Shift_Ins_p.H266fs	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	278	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GAGTAGGTGTTGGGGGGATGAG	0.431													7	280	---	---	---	---					
ZCWPW1	55063	broad.mit.edu	37	7	100000150	100000151	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr7:100000150_100000151insT	ENST00000398027.2	-	16	1706_1707	c.1459_1460insA	c.(1459-1461)caafs	p.Q487fs	ZCWPW1_ENST00000490721.1_Frame_Shift_Ins_p.Q367fs|ZCWPW1_ENST00000360951.4_Intron|ZCWPW1_ENST00000324725.6_Frame_Shift_Ins_p.Q367fs	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	487							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTTGGCTTGGTTTTTTGGGTC	0.480													12	2937	---	---	---	---					
EXOC4	60412	broad.mit.edu	37	7	133682284	133682285	+	Frame_Shift_Ins	INS	-	-	C	rs34608222	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr7:133682284_133682285insC	ENST00000253861.4	+	15	2275_2276	c.2246_2247insC	c.(2245-2247)cccfs	p.P749fs	EXOC4_ENST00000541309.1_Frame_Shift_Ins_p.P37fs|EXOC4_ENST00000545148.1_Frame_Shift_Ins_p.P359fs|EXOC4_ENST00000539845.1_Frame_Shift_Ins_p.P648fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	749					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AACACGGATCTCCCCCCAGTGT	0.460													8	394	---	---	---	---					
TRBV4-2	28616	broad.mit.edu	37	7	142045511	142045512	+	RNA	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr7:142045511_142045512insC	ENST00000390392.3	+	0	160																											TTTGTCCCTTTCCCCCCGCAGT	0.485													7	444	---	---	---	---					
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr7:142612493_142612494insC	ENST00000265310.1	-	10	1617_1618	c.1269_1270insG	c.(1267-1272)ggcattfs	p.I424fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	424					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACATGGAATGGCCCCCCAAGAA	0.505													7	653	---	---	---	---					
SLC18A1	6570	broad.mit.edu	37	8	20004787	20004788	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr8:20004787_20004788insG	ENST00000440926.1	-	16	1915_1916	c.1445_1446insC	c.(1444-1446)cgcfs	p.R482fs	SLC18A1_ENST00000265808.7_Frame_Shift_Ins_p.R450fs|SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000519026.1_Frame_Shift_Ins_p.R450fs|SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000276373.5_Frame_Shift_Ins_p.R482fs	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	482					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		CTTCCTTTGCCGGGGGGCTCCG	0.500													7	400	---	---	---	---					
DPYSL2	1808	broad.mit.edu	37	8	26513183	26513184	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr8:26513183_26513184insC	ENST00000311151.5	+	14	2092_2093	c.1680_1681insC	c.(1678-1683)gcccccfs	p.AP560fs	DPYSL2_ENST00000523027.1_Frame_Shift_Ins_p.AP524fs|DPYSL2_ENST00000521913.1_Frame_Shift_Ins_p.AP524fs	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	560					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GTATCGTGGCGCCCCCCGGTGG	0.644											OREG0018659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	423	---	---	---	---					
NUGGC	389643	broad.mit.edu	37	8	27880848	27880849	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr8:27880848_27880849insG	ENST00000413272.2	-	19	2518_2519	c.2376_2377insC	c.(2374-2379)ccggacfs	p.D793fs	NUGGC_ENST00000341513.6_Frame_Shift_Ins_p.D793fs	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated									p.P792P(2)									AGTGATGTCCCGGGGGGGCCAG	0.525													8	71	---	---	---	---					
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)cccfs	p.P1552fs	ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421													17	226	---	---	---	---					
STAU2	27067	broad.mit.edu	37	8	74507470	74507471	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr8:74507470_74507471insT	ENST00000355780.5	-	10	1213_1214	c.995_996insA	c.(994-996)agcfs	p.S332fs	STAU2_ENST00000519961.1_Frame_Shift_Ins_p.S364fs|STAU2_ENST00000522509.1_Frame_Shift_Ins_p.S332fs|STAU2_ENST00000523558.1_Frame_Shift_Ins_p.S192fs|STAU2_ENST00000517542.1_Frame_Shift_Ins_p.S326fs|STAU2_ENST00000521727.1_Frame_Shift_Ins_p.S344fs|STAU2_ENST00000521210.1_Frame_Shift_Ins_p.S260fs|STAU2_ENST00000521451.1_Frame_Shift_Ins_p.S144fs|STAU2_ENST00000524300.1_Frame_Shift_Ins_p.S364fs|STAU2_ENST00000522695.1_Frame_Shift_Ins_p.S332fs	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	364	DRBM 4.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	p.N332fs*67(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			CTTCTGCAGCATTTTTTTTGGC	0.327													9	300	---	---	---	---					
LY96	23643	broad.mit.edu	37	8	74903692	74903693	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr8:74903692_74903693insT	ENST00000284818.2	+	1	106_107	c.15_16insT	c.(13-18)ctttttfs	p.LF5fs	LY96_ENST00000518893.1_Frame_Shift_Ins_p.LF5fs	NM_015364.4	NP_056179.3	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	5					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			TACCATTTCTGTTTTTTTCCAC	0.366													8	729	---	---	---	---					
NBN	4683	broad.mit.edu	37	8	90965665	90965666	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr8:90965665_90965666insT	ENST00000265433.3	-	11	1805_1806	c.1651_1652insA	c.(1651-1653)ggafs	p.G551fs	NBN_ENST00000409330.1_Frame_Shift_Ins_p.G469fs	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	551					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ATCCATTTCCCTTTTTTTATTT	0.327								Homologous recombination					8	431	---	---	---	---					
KLHL38	340359	broad.mit.edu	37	8	124664150	124664151	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr8:124664150_124664151insC	ENST00000325995.7	-	1	1039_1040	c.1016_1017insG	c.(1015-1017)gatfs	p.D339fs	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	339										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TGACAGCCATGCCCCCCAGCAC	0.589													8	355	---	---	---	---					
MIR1208	100302281	broad.mit.edu	37	8	129162432	129162433	+	RNA	INS	-	-	G	rs2648841	by1000genomes	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr8:129162432_129162433insG	ENST00000408334.1	+	0	71_72					NR_031613.1																						ACCACTGTGGTGGGGGGGAGTG	0.564													9	218	---	---	---	---					
KIAA2026	158358	broad.mit.edu	37	9	5968043	5968044	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr9:5968043_5968044insT	ENST00000399933.3	-	3	2186_2187	c.2187_2188insA	c.(2185-2190)aacaaafs	p.NK729fs	KIAA2026_ENST00000381461.2_Frame_Shift_Ins_p.NK729fs	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	729	Lys-rich.							p.A730fs*15(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTGTGTTTTGCTTTTTTTTTGA	0.327													3	5	---	---	---	---					
TEK	7010	broad.mit.edu	37	9	27204925	27204926	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr9:27204925_27204926insG	ENST00000380036.4	+	14	2668_2669	c.2226_2227insG	c.(2224-2229)ggggggfs	p.GG742fs	TEK_ENST00000519097.1_Frame_Shift_Ins_p.GG595fs|TEK_ENST00000406359.4_Frame_Shift_Ins_p.GG699fs	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	742					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CGGACCTCGGAGGGGGGAAGAT	0.510													9	348	---	---	---	---					
ANKRD19P	138649	broad.mit.edu	37	9	95649123	95649124	+	RNA	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr9:95649123_95649124insC	ENST00000473204.1	+	0	2259																											GCAATCTAGCACCCCCCAAAAG	0.540													7	305	---	---	---	---					
CCDC180	100499483	broad.mit.edu	37	9	100082417	100082418	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr9:100082417_100082418insC	ENST00000375202.2	+	25	2573_2574	c.1221_1222insC	c.(1219-1224)ctccccfs	p.LP407fs	CCDC180_ENST00000357054.1_Frame_Shift_Ins_p.LP546fs|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Frame_Shift_Ins_p.LP407fs|CCDC180_ENST00000411667.2_Frame_Shift_Ins_p.LP404fs|CCDC180_ENST00000395220.1_Frame_Shift_Ins_p.LP506fs					coiled-coil domain containing 180																		GTGACCTCCTGCCCCCCAGTTA	0.505													10	609	---	---	---	---					
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr9:107593322_107593323insC	ENST00000374736.3	-	14	2169_2170	c.1775_1776insG	c.(1774-1776)gttfs	p.V592fs		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	592					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTAGGCGAAGCCCCCCCAGAC	0.540													11	281	---	---	---	---					
C9orf152	401546	broad.mit.edu	37	9	112963553	112963554	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr9:112963553_112963554insG	ENST00000400613.4	-	2	1003_1004	c.394_395insC	c.(394-396)ggafs	p.G132fs	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	132										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ACTGGTGTCCTGGGGGGAGGTT	0.564													13	773	---	---	---	---					
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr9:118982329_118982330insC	ENST00000328252.3	+	5	2401_2402	c.2032_2033insC	c.(2032-2034)cccfs	p.P678fs	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	678					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTTGCCCTCGCCCCCCAAGTT	0.574													13	356	---	---	---	---					
FAM21B	55747	broad.mit.edu	37	10	47909192	47909193	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr10:47909192_47909193insC	ENST00000358474.5	+	10	762_763	c.762_763insC	c.(760-765)acccccfs	p.TP254fs		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN	family with sequence similarity 21, member B	254					retrograde transport, endosome to Golgi	early endosome membrane|WASH complex				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						ACTTATTCACACCCCCCAAGCT	0.515													7	335	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1366_splice	c.e11-1	p.VP456_splice	SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000546025.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	456					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.510													16	501	---	---	---	---					
ZSWIM8	23053	broad.mit.edu	37	10	75560463	75560464	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr10:75560463_75560464insC	ENST00000604729.1	+	24	5365_5366	c.5068_5069insC	c.(5068-5070)cccfs	p.P1690fs	ZSWIM8_ENST00000605216.1_Frame_Shift_Ins_p.P1693fs|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.P1652fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.P1698fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.P1511fs					zinc finger, SWIM-type containing 8																		CTTCTCCCGCTCCCCCCCCTAC	0.604													12	83	---	---	---	---					
HECTD2	143279	broad.mit.edu	37	10	93272060	93272061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr10:93272060_93272061insC	ENST00000446394.1	+	22	2362_2363	c.2262_2263insC	c.(2260-2265)ctccccfs	p.LP754fs	HECTD2_ENST00000298068.5_Frame_Shift_Ins_p.LP750fs|HECTD2_ENST00000371667.1_Frame_Shift_Ins_p.LP400fs|HECTD2_ENST00000536715.1_Frame_Shift_Ins_p.LP339fs			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	599	---	---	---	---					
LGI1	9211	broad.mit.edu	37	10	95552601	95552602	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr10:95552601_95552602insC	ENST00000371418.4	+	6	865_866	c.605_606insC	c.(604-606)gccfs	p.A202fs	LGI1_ENST00000542308.1_Frame_Shift_Ins_p.A154fs|LGI1_ENST00000371413.3_Frame_Shift_Ins_p.A202fs	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	202	LRRCT.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	p.E205fs*9(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TACTGCGAAGGCCCCCCAGAAT	0.421													10	633	---	---	---	---					
SEC31B	25956	broad.mit.edu	37	10	102265153	102265154	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													8	390	---	---	---	---					
TLX1NB	100038246	broad.mit.edu	37	10	102849502	102849503	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr10:102849502_102849503insC	ENST00000445873.1	-	3	1436_1437	c.160_161insG	c.(160-162)cccfs	p.P54fs		NM_001085398.1	NP_001078867.1	P0CAT3	TLXNB_HUMAN	TLX1 neighbor	54																	AAGAGTGGGGGCCCCACTCGGG	0.629													2	4	---	---	---	---					
TRUB1	142940	broad.mit.edu	37	10	116730191	116730192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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	250	---	---	---	---					
LINC00959	387723	broad.mit.edu	37	10	131905959	131905960	+	RNA	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr10:131905959_131905960insG	ENST00000456581.1	-	0	114																											CTTTGCCTCCAGGGGGGGAAGG	0.530													10	184	---	---	---	---					
OR52B6	340980	broad.mit.edu	37	11	5602545	5602546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr11:5602545_5602546insC	ENST00000345043.2	+	1	439_440	c.439_440insC	c.(439-441)cccfs	p.P147fs	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCATCTGCTCCCCCCTGCGA	0.510													12	1322	---	---	---	---					
EIF4G2	1982	broad.mit.edu	37	11	10820934	10820935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr11:10820934_10820935insG	ENST00000526148.1	-	20	2871_2872	c.2361_2362insC	c.(2359-2364)ccgcgafs	p.R788fs	EIF4G2_ENST00000396525.2_Frame_Shift_Ins_p.R750fs|EIF4G2_ENST00000525681.1_Frame_Shift_Ins_p.R788fs|EIF4G2_ENST00000339995.5_Frame_Shift_Ins_p.R788fs|RP11-685M7.5_ENST00000532365.1_RNA	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	164	---	---	---	---					
PLEKHA7	144100	broad.mit.edu	37	11	16822525	16822525	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr11:16822525delA	ENST00000355661.3	-	17	2415	c.2405delT	c.(2404-2406)tcfs	p.F802fs	PLEKHA7_ENST00000531066.1_Frame_Shift_Del_p.F802fs|PLEKHA7_ENST00000448080.2_Frame_Shift_Del_p.F802fs|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	802					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGTCACCTGGAAAAAAAAGGC	0.443													7	498	---	---	---	---					
PAX6	5080	broad.mit.edu	37	11	31812316	31812317	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr11:31812316_31812317insG	ENST00000419022.1	-	13	1634_1635	c.1166_1167insC	c.(1165-1167)ccafs	p.P389fs	PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379132.3_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	375	Pro/Ser/Thr-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGTA	0.589									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				8	80	---	---	---	---					
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)gacfs	p.D101fs	PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATGA	0.520													46	994	---	---	---	---					
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr11:48328524_48328525insC	ENST00000319988.1	+	1	750_751	c.750_751insC	c.(748-753)atccccfs	p.IP250fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGTTCTCATGCCCCCCATGTT	0.480													9	965	---	---	---	---					
OR4C3	256144	broad.mit.edu	37	11	48346881	48346882	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr11:48346881_48346882insT	ENST00000319856.4	+	1	410_411	c.389_390insT	c.(388-390)cttfs	p.L130fs		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTTGGAGCTCATTTTTTGGGAG	0.460													10	1879	---	---	---	---					
OR4D10	390197	broad.mit.edu	37	11	59245351	59245352	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr11:59245351_59245352insG	ENST00000530162.1	+	1	506_507	c.449_450insG	c.(448-450)tggfs	p.W150fs		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCTGCCTGGTTGGGGGGCTTTG	0.540													8	259	---	---	---	---					
DDB1	1642	broad.mit.edu	37	11	61093159	61093160	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr11:61093159_61093160insC	ENST00000301764.7	-	6	1082_1083	c.685_686insG	c.(685-687)catfs	p.H229fs	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	229	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AATGATGATGGCCCCCCCAAAG	0.490								Nucleotide excision repair (NER)					7	115	---	---	---	---					
MYO7A	4647	broad.mit.edu	37	11	76873960	76873961	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr11:76873960_76873961insC	ENST00000409709.3	+	14	1888_1889	c.1616_1617insC	c.(1615-1617)accfs	p.T539fs	MYO7A_ENST00000458637.2_Frame_Shift_Ins_p.T539fs|MYO7A_ENST00000409893.1_Frame_Shift_Ins_p.T539fs|MYO7A_ENST00000409619.2_Frame_Shift_Ins_p.T528fs	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	539	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.K542fs*80(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCCAACTACATCCCCCCCAAGA	0.564													12	224	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr11:113076860_113076861insG	ENST00000316851.7	+	4	556_557	c.556_557insG	c.(556-558)gggfs	p.G186fs	NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495													15	1089	---	---	---	---					
SIK3	23387	broad.mit.edu	37	11	116733010	116733011	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr11:116733010_116733011insC	ENST00000375300.1	-	16	1997_1998	c.1992_1993insG	c.(1990-1995)ggagatfs	p.D665fs	SIK3_ENST00000434315.2_Frame_Shift_Ins_p.D506fs|SIK3_ENST00000375288.1_Frame_Shift_Ins_p.E38fs|SIK3_ENST00000292055.4_Frame_Shift_Ins_p.D607fs|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_Frame_Shift_Ins_p.D607fs|SIK3_ENST00000446921.2_Frame_Shift_Ins_p.D665fs			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	607	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCATCAATCTGCCCCCCGTACA	0.500													8	310	---	---	---	---					
OR8D4	338662	broad.mit.edu	37	11	123777441	123777442	+	Frame_Shift_Ins	INS	-	-	T	rs79561639	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr11:123777441_123777442insT	ENST00000321355.2	+	1	333_334	c.303_304insT	c.(301-306)ctttttfs	p.LF101fs		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGATTCAGCTGTTTTTTTTCTG	0.436													11	747	---	---	---	---					
OR10G7	390265	broad.mit.edu	37	11	123909635	123909636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr11:123909635_123909636insG	ENST00000330487.5	-	1	81_82	c.73_74insC	c.(73-75)cttfs	p.L25fs		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		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)		GATTCCAAAGAGGGGGGCGTCC	0.569													7	368	---	---	---	---					
IGSF9B	22997	broad.mit.edu	37	11	133807826	133807827	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr11:133807826_133807827insG	ENST00000321016.8	-	4	669_670	c.439_440insC	c.(439-441)gtafs	p.V147fs	IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.V147fs			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	147	Ig-like 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCGATGTACTGGGGGGGTGTT	0.574													10	96	---	---	---	---					
GLB1L3	112937	broad.mit.edu	37	11	134181004	134181005	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr11:134181004_134181005insC	ENST00000431683.2	+	13	1227_1228	c.1227_1228insC	c.(1225-1230)taccccfs	p.YP409fs		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	409					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		AGGCTGTGTATCCCCCCGTGAG	0.604													11	453	---	---	---	---					
MRPL51	51258	broad.mit.edu	37	12	6602094	6602095	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr12:6602094_6602095insG	ENST00000229238.3	-	2	584_585	c.123_124insC	c.(121-126)ccaagtfs	p.S42fs	MRPL51_ENST00000543164.1_5'UTR|MRPL51_ENST00000543703.1_Intron	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	42					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			kidney(2)|large_intestine(1)|lung(3)	6						TCAACCACTTTGGGGGGCGGGA	0.510													7	209	---	---	---	---					
MLF2	8079	broad.mit.edu	37	12	6860824	6860825	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr12:6860824_6860825insG	ENST00000203630.5	-	4	842_843	c.198_199insC	c.(196-201)ccttggfs	p.W67fs	MLF2_ENST00000435120.1_Frame_Shift_Ins_p.W67fs|MLF2_ENST00000539187.1_Frame_Shift_Ins_p.W67fs|MLF2_ENST00000542154.1_Frame_Shift_Ins_p.W67fs			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	67					defense response	cytoplasm|nucleus	protein binding			kidney(2)|large_intestine(3)|lung(4)	9						AGCATCCCAAAGGGGGAGACAG	0.465													7	434	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-492)cggfs	p.R164fs	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAGA	0.564													11	252	---	---	---	---					
CLSTN3	9746	broad.mit.edu	37	12	7301638	7301639	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr12:7301638_7301639insC	ENST00000537408.1	+	12	2492_2493	c.1954_1955insC	c.(1954-1956)cccfs	p.P652fs	CLSTN3_ENST00000266546.6_Frame_Shift_Ins_p.P640fs			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	640					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TCAGCCTGACGCCCCCCAGATC	0.564													8	191	---	---	---	---					
A2ML1	144568	broad.mit.edu	37	12	9001442	9001443	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr12:9001442_9001443insC	ENST00000299698.7	+	16	2140_2141	c.1960_1961insC	c.(1960-1962)gagfs	p.E654fs	A2ML1_ENST00000539547.1_Frame_Shift_Ins_p.E163fs	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	498						extracellular space	endopeptidase inhibitor activity	p.S654L(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CCAAGGGCATTCGAGCCAGCGT	0.525													11	2076	---	---	---	---					
M6PR	4074	broad.mit.edu	37	12	9095101	9095102	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr12:9095101_9095102insC	ENST00000000412.3	-	6	1089_1090	c.621_622insG	c.(619-624)ggtcctfs	p.P208fs		NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)	208					endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)		TGGTATAGGAACCCCCCAACAA	0.450													8	463	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													20	996	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr12:14019043_14019044insG	ENST00000279593.3	-	2	308_309	c.99_100insC	c.(97-102)ccgcatfs	p.H34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCCAATGCTGGGGGGGCTCT	0.589													10	149	---	---	---	---					
PCBP2	5094	broad.mit.edu	37	12	53856277	53856278	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr12:53856277_53856278insC	ENST00000603815.1	+	8	867_868	c.517_518insC	c.(517-519)cccfs	p.P173fs	PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000541275.1_Splice_Site_p.P169_splice|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000552296.2_Splice_Site_p.P169_splice|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000546463.1_Splice_Site_p.P169_splice|PCBP2_ENST00000359282.5_Splice_Site_p.P169_splice|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000439930.3_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000455667.3_Splice_Site_p.P169_splice|PCBP2_ENST00000437231.1_Splice_Site_p.P169_splice	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													7	174	---	---	---	---					
NCKAP1L	3071	broad.mit.edu	37	12	54914555	54914556	+	Frame_Shift_Ins	INS	-	-	C	rs148042893		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr12:54914555_54914556insC	ENST00000293373.6	+	17	1782_1783	c.1703_1704insC	c.(1702-1704)tccfs	p.S568fs	NCKAP1L_ENST00000545638.2_Frame_Shift_Ins_p.S518fs	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	568					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GCCATTGCTTTCCCCCTGATTT	0.470													7	2100	---	---	---	---					
PDE1B	5153	broad.mit.edu	37	12	54971059	54971060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr12:54971059_54971060insC	ENST00000243052.3	+	15	1994_1995	c.1558_1559insC	c.(1558-1560)cccfs	p.P520fs	PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.P500fs|PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.P479fs	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													16	442	---	---	---	---					
DCD	117159	broad.mit.edu	37	12	55038703	55038704	+	Frame_Shift_Ins	INS	-	-	T	rs7301225	by1000genomes	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr12:55038703_55038704insT	ENST00000456047.2	-	5	506_507	c.317_318insA	c.(316-318)gccfs	p.A106fs	DCD_ENST00000293371.6_Intron			P81605	DCD_HUMAN	dermcidin	0					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				GATTCACAGGAGCCCCAAAGAC	0.535													2	4	---	---	---	---					
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													8	2651	---	---	---	---					
OR6C4	341418	broad.mit.edu	37	12	55945453	55945454	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr12:55945453_55945454insG	ENST00000394256.2	+	1	471_472	c.443_444insG	c.(442-444)tggfs	p.W148fs	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TGCTCCTGGTTGGGGGGATTCC	0.455													12	652	---	---	---	---					
GPR182	11318	broad.mit.edu	37	12	57389022	57389023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr12:57389022_57389023insC	ENST00000300098.1	+	2	248_249	c.29_30insC	c.(28-30)gccfs	p.A10fs		NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	10						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						TGGGGGCCTGGCCCCTCGGAGG	0.594													11	190	---	---	---	---					
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)gggfs	p.G272fs	GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTGC	0.599													36	617	---	---	---	---					
KIF5A	3798	broad.mit.edu	37	12	57972047	57972048	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													7	976	---	---	---	---					
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr12:69233089_69233090insC	ENST00000462284.1	+	11	1256_1257	c.954_955insC	c.(952-957)aaccccfs	p.NP318fs	MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	312	Necessary for interaction with USP2.|Region II.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""								14	382	---	---	---	---					
PPFIA2	8499	broad.mit.edu	37	12	81741386	81741387	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr12:81741386_81741387insG	ENST00000550584.2	-	17	2452_2453	c.2157_2158insC	c.(2155-2160)ccgtggfs	p.W720fs	PPFIA2_ENST00000552948.1_Frame_Shift_Ins_p.W720fs|PPFIA2_ENST00000549396.1_Frame_Shift_Ins_p.W720fs|PPFIA2_ENST00000443686.3_Frame_Shift_Ins_p.W621fs|PPFIA2_ENST00000550359.2_Frame_Shift_Ins_p.W567fs|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000548586.1_Frame_Shift_Ins_p.W720fs|PPFIA2_ENST00000333447.7_Frame_Shift_Ins_p.W702fs|PPFIA2_ENST00000549325.1_Frame_Shift_Ins_p.W702fs|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Frame_Shift_Ins_p.W287fs|PPFIA2_ENST00000407050.4_Frame_Shift_Ins_p.W646fs	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	646										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GAGTGTCCACTGGGGGGAGATG	0.550													7	378	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													7	320	---	---	---	---					
BTBD11	121551	broad.mit.edu	37	12	107937777	107937778	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr12:107937777_107937778insC	ENST00000280758.5	+	3	1879_1880	c.1351_1352insC	c.(1351-1353)cccfs	p.P451fs	BTBD11_ENST00000420571.2_Frame_Shift_Ins_p.P451fs|BTBD11_ENST00000490090.2_Frame_Shift_Ins_p.P451fs	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	451						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CGGCAATGGCACCCCCCTGCAC	0.579													8	135	---	---	---	---					
HECTD4	283450	broad.mit.edu	37	12	112600859	112600860	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr12:112600859_112600860insG	ENST00000550722.1	-	75	13063_13064	c.12668_12669insC	c.(12667-12669)cgafs	p.R4223fs	HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.R3947fs|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.R4197fs	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CTGTGCCATCTGGGGGGGCGAT	0.629													10	165	---	---	---	---					
OAS3	4940	broad.mit.edu	37	12	113388496	113388497	+	Splice_Site	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr12:113388496_113388497insG	ENST00000228928.7	+	7	1553		c.e7-1		RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa						interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TTCCCTCCACAGGGGGGCTCAT	0.594													7	595	---	---	---	---					
SLC8B1	80024	broad.mit.edu	37	12	113758305	113758306	+	Splice_Site	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr12:113758305_113758306insG	ENST00000552014.1	-	8	1042		c.e8-2		SLC24A6_ENST00000553238.1_Intron|SLC24A6_ENST00000546737.1_Intron|SLC24A6_ENST00000202831.3_Splice_Site			Q6J4K2	NCKX6_HUMAN							response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CGCCAGCGCCTGGGGGGAGGAG	0.644													8	671	---	---	---	---					
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													7	149	---	---	---	---					
GATC	283459	broad.mit.edu	37	12	120894973	120894974	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr12:120894973_120894974insC	ENST00000551765.1	+	3	392_393	c.349_350insC	c.(349-351)cccfs	p.P117fs	AL021546.6_ENST00000551806.1_Frame_Shift_Ins_p.A148fs	NM_176818.2	NP_789788.1	O43716	GATCL_HUMAN	glutamyl-tRNA(Gln) amidotransferase, subunit C	117					regulation of translational fidelity					breast(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTACTTTGTGGCCCCCCCAGGT	0.475											OREG0022192	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	97	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132466645	132466646	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr12:132466645_132466646insC	ENST00000333577.4	+	6	1768_1769	c.1659_1660insC	c.(1657-1662)atccccfs	p.IP553fs	EP400_ENST00000330386.6_Frame_Shift_Ins_p.IP517fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.IP480fs|EP400_ENST00000389562.2_Frame_Shift_Ins_p.IP516fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.IP517fs			Q96L91	EP400_HUMAN	E1A binding protein p400	553					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGGAGGAATGCCCCCCACGCC	0.589													7	431	---	---	---	---					
PABPC3	5042	broad.mit.edu	37	13	25671804	25671806	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr13:25671804_25671806delGCT	ENST00000281589.3	+	1	1505_1507	c.1468_1470delGCT	c.(1468-1470)del	p.A496del		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	496					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ACGTCctgcagctgctgctgctg	0.532													8	170	---	---	---	---					
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													17	372	---	---	---	---					
ATP7B	540	broad.mit.edu	37	13	52532497	52532498	+	Frame_Shift_Ins	INS	-	-	G	rs137853287		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr13:52532497_52532498insG	ENST00000242839.4	-	8	2460_2461	c.2304_2305insC	c.(2302-2307)cctgctfs	p.A769fs	ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000417240.2_Frame_Shift_Ins_p.A41fs|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000448424.2_Intron|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000400366.3_Frame_Shift_Ins_p.A658fs|ATP7B_ENST00000418097.2_Frame_Shift_Ins_p.A769fs	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	769			M -> I (in WD).|M -> R (in WD).|M -> V (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ACAAAGAGCATGGGGGGCGTGT	0.520									Wilson disease				12	833	---	---	---	---					
MBNL2	10150	broad.mit.edu	37	13	97928603	97928604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr13:97928603_97928604insC	ENST00000345429.6	+	2	895_896	c.114_115insC	c.(112-117)caccccfs	p.HP38fs	MBNL2_ENST00000445661.2_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000397601.1_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000376673.3_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000343600.4_Frame_Shift_Ins_p.HP38fs	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	38					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			AATTTGCTCATCCCCCCAAAAG	0.411													7	406	---	---	---	---					
OR4N5	390437	broad.mit.edu	37	14	20612063	20612064	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													9	1086	---	---	---	---					
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													12	565	---	---	---	---					
SALL2	6297	broad.mit.edu	37	14	21992275	21992276	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr14:21992275_21992276insG	ENST00000327430.3	-	2	1880_1881	c.1586_1587insC	c.(1585-1587)cggfs	p.R529fs	SALL2_ENST00000450879.2_Frame_Shift_Ins_p.R392fs|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	529							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)		CCTCACTCCCTGGGGGGGTGTT	0.530													9	196	---	---	---	---					
OR10G2	26534	broad.mit.edu	37	14	22102924	22102925	+	Frame_Shift_Ins	INS	-	-	G	rs150140072		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr14:22102924_22102925insG	ENST00000542433.1	-	1	171_172	c.74_75insC	c.(73-75)caafs	p.Q25fs		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TTCTTAGATTTGGGGGGTGAGA	0.480													7	367	---	---	---	---					
MED6	10001	broad.mit.edu	37	14	71051554	71051555	+	Frame_Shift_Ins	INS	-	-	G	rs145634622	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr14:71051554_71051555insG	ENST00000256379.5	-	8	745_746	c.716_717insC	c.(715-717)cgafs	p.R239fs	MED6_ENST00000440435.2_3'UTR|MED6_ENST00000554963.1_Frame_Shift_Ins_p.R239fs|MED6_ENST00000430055.2_Frame_Shift_Ins_p.R246fs	NM_005466.2	NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	239					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity	p.E240fs*1(1)		large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		TCCGTTTTTCAGGGGGGCCTTT	0.450													7	1045	---	---	---	---					
UNC79	57578	broad.mit.edu	37	14	94120111	94120112	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr14:94120111_94120112insG	ENST00000553484.1	+	38	6444_6445	c.6290_6291insG	c.(6289-6291)gggfs	p.G2097fs	UNC79_ENST00000256339.4_Frame_Shift_Ins_p.G1898fs|UNC79_ENST00000393151.2_Frame_Shift_Ins_p.G2075fs|UNC79_ENST00000555664.1_Frame_Shift_Ins_p.G2036fs			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2075						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGCAATGCGGCGGGGGTGGCCA	0.535													10	1328	---	---	---	---					
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													17	498	---	---	---	---					
RYR3	6263	broad.mit.edu	37	15	34015000	34015001	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr15:34015000_34015001insG	ENST00000389232.4	+	44	6774_6775	c.6704_6705insG	c.(6703-6705)gggfs	p.G2235fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.G2235fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2235	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGCGGGGTGAGGGGGGAAACG	0.584													8	383	---	---	---	---					
ZNF609	23060	broad.mit.edu	37	15	64967993	64967994	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													9	1272	---	---	---	---					
UACA	55075	broad.mit.edu	37	15	70959371	70959372	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr15:70959371_70959372insT	ENST00000322954.6	-	16	3836_3837	c.3651_3652insA	c.(3649-3654)aatagafs	p.NR1217fs	UACA_ENST00000379983.2_Frame_Shift_Ins_p.NR1204fs|UACA_ENST00000560441.1_Frame_Shift_Ins_p.NR1202fs|UACA_ENST00000539319.1_Frame_Shift_Ins_p.NR1108fs	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1217						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTAGTCTCTAATTTTTTTAATG	0.347													8	263	---	---	---	---					
CHD2	1106	broad.mit.edu	37	15	93540529	93540530	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr15:93540529_93540530insG	ENST00000394196.4	+	30	4849_4850	c.3781_3782insG	c.(3781-3783)gggfs	p.G1261fs	CHD2_ENST00000557381.1_Frame_Shift_Ins_p.G1261fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1261					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGATGTAGAGTGGGGGGTGGAA	0.411													8	298	---	---	---	---					
IGF1R	3480	broad.mit.edu	37	15	99251108	99251109	+	Frame_Shift_Ins	INS	-	-	G	rs121912426		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr15:99251108_99251109insG	ENST00000268035.6	+	2	1023_1024	c.412_413insG	c.(412-414)gggfs	p.G138fs	IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.G138fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	138			R -> Q (in IGF1RES; has decreased IGF1R function).		anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GAACATTACTCGGGGGGCCATC	0.510													11	321	---	---	---	---					
ATF7IP2	80063	broad.mit.edu	37	16	10574747	10574748	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr16:10574747_10574748insC	ENST00000396560.2	+	11	1788_1789	c.1561_1562insC	c.(1561-1563)cccfs	p.P521fs	ATF7IP2_ENST00000543967.1_Frame_Shift_Ins_p.P65fs|ATF7IP2_ENST00000396559.1_Frame_Shift_Ins_p.YP498fs|ATF7IP2_ENST00000324570.5_Frame_Shift_Ins_p.YP498fs|ATF7IP2_ENST00000356427.2_Frame_Shift_Ins_p.P521fs	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						AAGTCCAGTATCCCCCCTGGAG	0.406													7	743	---	---	---	---					
CIITA	4261	broad.mit.edu	37	16	10995899	10995900	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr16:10995899_10995900insC	ENST00000324288.8	+	7	619_620	c.486_487insC	c.(484-489)gaccccfs	p.DP162fs	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	162					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCACAGCTGAGCCCCCCACTGT	0.634			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								7	536	---	---	---	---					
SNX29	92017	broad.mit.edu	37	16	12162916	12162917	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr16:12162916_12162917insC	ENST00000566228.1	+	10	1315_1316	c.1246_1247insC	c.(1246-1248)cccfs	p.P416fs	SNX29_ENST00000323433.4_Frame_Shift_Ins_p.P31fs|SNX29_ENST00000306030.3_Frame_Shift_Ins_p.P31fs	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	31					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CTGCACAGATGCCCCCCTCGGA	0.495													7	651	---	---	---	---					
ACSM5	54988	broad.mit.edu	37	16	20429391	20429392	+	Frame_Shift_Ins	INS	-	-	C	rs149315908	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr16:20429391_20429392insC	ENST00000331849.4	+	3	362_363	c.215_216insC	c.(214-216)cccfs	p.P72fs	ACSM5_ENST00000575584.1_Frame_Shift_Ins_p.P72fs	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	72					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GCTGGACACCGCCCCCCAAATC	0.455													7	235	---	---	---	---					
ACSM2A	123876	broad.mit.edu	37	16	20489924	20489925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr16:20489924_20489925insC	ENST00000573854.1	+	10	1320_1321	c.1206_1207insC	c.(1204-1209)ctccccfs	p.LP402fs	ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.LP174fs|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.LP323fs|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.LP402fs	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	402					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCAACGTCCTGCCCCCCGGCAC	0.505													10	426	---	---	---	---					
ACSM2B	348158	broad.mit.edu	37	16	20556547	20556548	+	Frame_Shift_Ins	INS	-	-	G	rs146499503		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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_ENST00000565232.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs	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													13	503	---	---	---	---					
RRN3P1	730092	broad.mit.edu	37	16	21814059	21814060	+	RNA	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr16:21814059_21814060insG	ENST00000546471.1	-	0	1607																											CCTATAACAAAGGGGGGGGAAA	0.381													7	117	---	---	---	---					
SCNN1G	6340	broad.mit.edu	37	16	23226709	23226710	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr16:23226709_23226710insC	ENST00000300061.2	+	13	2012_2013	c.1869_1870insC	c.(1867-1872)ccccccfs	p.PP623fs		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	623					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CCGGCACACCGCCCCCCAAATA	0.559													7	201	---	---	---	---					
ARHGAP17	55114	broad.mit.edu	37	16	24942179	24942180	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr16:24942179_24942180insG	ENST00000289968.6	-	19	2509_2510	c.2440_2441insC	c.(2440-2442)accfs	p.T814fs	ARHGAP17_ENST00000303665.5_Frame_Shift_Ins_p.T736fs|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	814	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		ACCAGGAGGTTGGGGGGGTGGG	0.574													12	177	---	---	---	---					
ITGAD	3681	broad.mit.edu	37	16	31422532	31422533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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	840	---	---	---	---					
NOD2	64127	broad.mit.edu	37	16	50745398	50745399	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr16:50745398_50745399insC	ENST00000300589.2	+	4	1681_1682	c.1576_1577insC	c.(1576-1578)cccfs	p.P526fs		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	526	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCTGCATGCCACCCCCCCAGAC	0.619													9	98	---	---	---	---					
GLG1	2734	broad.mit.edu	37	16	74525008	74525009	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr16:74525008_74525009insC	ENST00000422840.2	-	8	1338_1339	c.1339_1340insG	c.(1339-1341)gatfs	p.D447fs	GLG1_ENST00000205061.5_Frame_Shift_Ins_p.D447fs|GLG1_ENST00000447066.2_Frame_Shift_Ins_p.D436fs	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	447						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GTGTTCAATCTCCCCCCGACAG	0.515													7	354	---	---	---	---					
CFDP1	10428	broad.mit.edu	37	16	75446448	75446449	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr16:75446448_75446449insG	ENST00000283882.3	-	3	518_519	c.386_387insC	c.(385-387)cagfs	p.Q129fs	CFDP1_ENST00000564286.1_5'UTR	NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN	craniofacial development protein 1	129	Glu-rich.				multicellular organismal development					endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						CTTGTGTACTTGGGGGCACTTT	0.455													8	2205	---	---	---	---					
TERF2IP	54386	broad.mit.edu	37	16	75690386	75690388	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													15	724	---	---	---	---					
PAFAH1B1	5048	broad.mit.edu	37	17	2583499	2583500	+	Frame_Shift_Ins	INS	-	-	G	rs113994201		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr17:2583499_2583500insG	ENST00000397195.5	+	10	1495_1496	c.1044_1045insG	c.(1042-1047)tcggggfs	p.SG348fs	PAFAH1B1_ENST00000397193.3_3'UTR|PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.SG143fs	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	348	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TGTTCCATTCTGGGGGGAAGTT	0.401													8	350	---	---	---	---					
KRT17P1	147228	broad.mit.edu	37	17	16748660	16748661	+	RNA	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr17:16748660_16748661insC	ENST00000580363.1	-	0	501																				lung(4)	4						AAGAAGTGATGCCCCCTGGAGA	0.639													4	7	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr17:27959374_27959375insG	ENST00000269033.3	-	15	2907_2908	c.2756_2757insC	c.(2755-2757)cgafs	p.R919fs	SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R946fs|RP11-68I3.2_ENST00000581474.1_RNA	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													29	668	---	---	---	---					
EFCAB5	374786	broad.mit.edu	37	17	28384851	28384852	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr17:28384851_28384852insT	ENST00000394835.3	+	13	2715_2716	c.2523_2524insT	c.(2521-2526)tcttttfs	p.SF841fs	EFCAB5_ENST00000394832.2_Frame_Shift_Ins_p.SF841fs|EFCAB5_ENST00000320856.5_Intron|EFCAB5_ENST00000536908.2_Frame_Shift_Ins_p.SF785fs|EFCAB5_ENST00000378738.3_Frame_Shift_Ins_p.SF841fs|EFCAB5_ENST00000541045.1_Frame_Shift_Ins_p.SF498fs	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	841							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTCTCACCTCCTTTTTTAAGGA	0.406													7	459	---	---	---	---					
ACACA	31	broad.mit.edu	37	17	35600370	35600371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr17:35600370_35600371insG	ENST00000353139.5	-	22	3328_3329	c.2847_2848insC	c.(2845-2850)ccatgtfs	p.C950fs	ACACA_ENST00000394406.2_Frame_Shift_Ins_p.C913fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.C855fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.C835fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	913					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTCCACATTGGGGGGAATGC	0.470													12	823	---	---	---	---					
HNF1B	6928	broad.mit.edu	37	17	36059173	36059174	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr17:36059173_36059174insG	ENST00000225893.4	-	8	1922_1923	c.1561_1562insC	c.(1561-1563)gtafs	p.V521fs	HNF1B_ENST00000427275.2_Intron|HNF1B_ENST00000560016.1_Intron|HNF1B_ENST00000561193.1_Frame_Shift_Ins_p.V495fs	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	521					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTGGGAATACTGGGGGGGTTCC	0.515													8	181	---	---	---	---					
RAB5C	5878	broad.mit.edu	37	17	40280704	40280705	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr17:40280704_40280705insC	ENST00000393860.3	-	4	596_597	c.280_281insG	c.(280-282)ccafs	p.P94fs	RAB5C_ENST00000547517.1_Frame_Shift_Ins_p.P127fs|CTD-2132N18.3_ENST00000592574.1_Frame_Shift_Ins_p.P94fs|RAB5C_ENST00000346213.4_Frame_Shift_Ins_p.P94fs	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	94					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GGCAGCCTGGGCCCCCCGATAG	0.530													7	295	---	---	---	---					
KCNH4	23415	broad.mit.edu	37	17	40328258	40328259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr17:40328258_40328259insC	ENST00000264661.3	-	5	974_975	c.642_643insG	c.(640-645)ggctcgfs	p.S215fs	KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	215					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGCAGCGAGACCCCCCCACGG	0.604													7	301	---	---	---	---					
DHX8	1659	broad.mit.edu	37	17	41570235	41570236	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr17:41570235_41570236insC	ENST00000262415.3	+	6	762_763	c.690_691insC	c.(688-693)agccccfs	p.SP230fs	DHX8_ENST00000540306.1_Frame_Shift_Ins_p.SP230fs	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	230						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GGAGTCAGAGTCCCCCCAAAGA	0.569													7	324	---	---	---	---					
RNF43	54894	broad.mit.edu	37	17	56435160	56435161	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr17:56435160_56435161insC	ENST00000584437.1	-	8	3931_3932	c.1976_1977insG	c.(1975-1977)gccfs	p.A659fs	RNF43_ENST00000583753.1_Frame_Shift_Ins_p.A618fs|RNF43_ENST00000577716.1_Frame_Shift_Ins_p.A659fs|RNF43_ENST00000577625.1_Frame_Shift_Ins_p.A532fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Frame_Shift_Ins_p.A532fs|RNF43_ENST00000500597.2_Frame_Shift_Ins_p.A618fs|RNF43_ENST00000407977.2_Frame_Shift_Ins_p.A659fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCCT	0.599													7	190	---	---	---	---					
MARCH10	162333	broad.mit.edu	37	17	60814265	60814266	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr17:60814265_60814266insC	ENST00000544856.2	-	7	1338_1339	c.960_961insG	c.(958-963)ggcatcfs	p.I321fs	RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	322							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGGGTCGATGTCCCCCCAAATC	0.460													10	961	---	---	---	---					
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)aagfs	p.K1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376													19	1091	---	---	---	---					
ESCO1	114799	broad.mit.edu	37	18	19154416	19154417	+	In_Frame_Ins	INS	-	-	CAA	rs76680119		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr18:19154416_19154417insCAA	ENST00000269214.5	-	4	1325_1326	c.388_389insTTG	c.(388-390)ggt>TTGggt	p.129_130insL		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	129					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TCTTGAAACCTCTGTTAATTGT	0.366													9	721	---	---	---	---					
ZBTB7C	201501	broad.mit.edu	37	18	45567075	45567076	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr18:45567075_45567076insC	ENST00000588982.1	-	3	904_905	c.403_404insG	c.(403-405)ggafs	p.G135fs	ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.G135fs			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	135	Asp-rich.|Glu-rich.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						gtcatcctcctcccccccgtcc	0.574													8	64	---	---	---	---					
WDR7	23335	broad.mit.edu	37	18	54358512	54358513	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr18:54358512_54358513insG	ENST00000254442.3	+	8	994_995	c.783_784insG	c.(781-786)acggggfs	p.TG261fs	WDR7_ENST00000357574.3_Frame_Shift_Ins_p.TG261fs|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	261										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGACATGGACCGGGGGGGACTT	0.416													7	146	---	---	---	---					
C3	718	broad.mit.edu	37	19	6697480	6697481	+	Frame_Shift_Ins	INS	-	-	G	rs137956083		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													16	284	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													11	393	---	---	---	---					
EPOR	2057	broad.mit.edu	37	19	11488680	11488681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr19:11488680_11488681insG	ENST00000222139.6	-	8	1610_1611	c.1506_1507insC	c.(1504-1509)ccgctafs	p.L503fs	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	503						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GCCACATAGCTGGGGGGCAGAG	0.569											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	1037	---	---	---	---					
ZNF878	729747	broad.mit.edu	37	19	12155624	12155625	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr19:12155624_12155625insT	ENST00000602107.1	-	5	731_732	c.732_733insA	c.(730-735)aacctafs	p.NL244fs	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL197fs|CTD-2006C1.2_ENST00000591838.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CATTCATAGGGTTTTTTTGCAG	0.396													12	655	---	---	---	---					
OR7C1	26664	broad.mit.edu	37	19	14910413	14910414	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr19:14910413_14910414insA	ENST00000248073.2	-	1	609_610	c.535_536insT	c.(535-537)tgafs	p.*179fs	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	179					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	p.C179fs*7(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AAGTAGATCACAAAAAAAGTGT	0.475													8	602	---	---	---	---					
NWD1	284434	broad.mit.edu	37	19	16860826	16860827	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr19:16860826_16860827insC	ENST00000524140.2	+	6	1791_1792	c.1373_1374insC	c.(1372-1374)tccfs	p.S458fs	NWD1_ENST00000339803.6_Frame_Shift_Ins_p.S323fs|NWD1_ENST00000379808.3_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000552788.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000549814.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000523826.1_Frame_Shift_Ins_p.S252fs	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	458	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCTCTCAACTGCCCCCCGAGGG	0.629													12	435	---	---	---	---					
CPAMD8	27151	broad.mit.edu	37	19	17039883	17039884	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr19:17039883_17039884insC	ENST00000443236.1	-	24	3184_3185	c.3153_3154insG	c.(3151-3156)ggatcafs	p.S1052fs		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1005						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.H1052fs*30(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTGTTCTGATGCCCCCCCAGGA	0.584													10	118	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769061	31769062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													10	303	---	---	---	---					
CEACAM5	1048	broad.mit.edu	37	19	42224865	42224866	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr19:42224865_42224866insC	ENST00000221992.6	+	8	1909_1910	c.1795_1796insC	c.(1795-1797)cccfs	p.P599fs	CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.P599fs|CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.P598fs|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	599	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCCATCATTTCCCCCCCAGAC	0.545													9	244	---	---	---	---					
POU2F2	5452	broad.mit.edu	37	19	42621520	42621521	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr19:42621520_42621521insG	ENST00000560398.1	-	5	257_258	c.250_251insC	c.(250-252)gatfs	p.D84fs	POU2F2_ENST00000533720.1_Splice_Site|POU2F2_ENST00000529952.1_Splice_Site|POU2F2_ENST00000526816.2_Splice_Site|POU2F2_ENST00000389341.5_Splice_Site|POU2F2_ENST00000342301.4_Splice_Site|POU2F2_ENST00000524801.2_Splice_Site|POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000560558.1_Intron			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	62					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				AGCCTTGATCTGGGGGGGAGAG	0.634													11	114	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													16	807	---	---	---	---					
CLASRP	11129	broad.mit.edu	37	19	45556128	45556129	+	Frame_Shift_Ins	INS	-	-	C	rs146240710		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr19:45556128_45556129insC	ENST00000544944.2	+	3	969_970	c.277_278insC	c.(277-279)cccfs	p.P93fs	CLASRP_ENST00000391953.4_Intron|CLASRP_ENST00000221455.3_Frame_Shift_Ins_p.P93fs			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													8	245	---	---	---	---					
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr19:48737669_48737670insC	ENST00000391898.3	-	3	382_383	c.340_341insG	c.(340-342)catfs	p.H114fs	CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000357778.5_5'UTR|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	0					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436													9	293	---	---	---	---					
CPT1C	126129	broad.mit.edu	37	19	50203963	50203964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr19:50203963_50203964insG	ENST00000392518.4	+	5	676_677	c.304_305insG	c.(304-306)gggfs	p.G102fs	CPT1C_ENST00000323446.5_Frame_Shift_Ins_p.G102fs|CPT1C_ENST00000354199.5_Frame_Shift_Ins_p.G102fs|CPT1C_ENST00000405931.2_Frame_Shift_Ins_p.G102fs|CPT1C_ENST00000598293.1_Frame_Shift_Ins_p.G102fs	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	102					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CCACGGGCTCCGGGGGGTCCTG	0.673													8	217	---	---	---	---					
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													10	302	---	---	---	---					
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													10	219	---	---	---	---					
JAG1	182	broad.mit.edu	37	20	10620244	10620245	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr20:10620244_10620245insG	ENST00000254958.5	-	26	4073_4074	c.3558_3559insC	c.(3556-3561)ccacggfs	p.R1187fs	JAG1_ENST00000423891.2_Frame_Shift_Ins_p.R1028fs	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1187					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGCGTGCCGTTGGGGGGCTTCT	0.515									Alagille Syndrome				7	197	---	---	---	---					
KIF16B	55614	broad.mit.edu	37	20	16407830	16407831	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr20:16407830_16407831insC	ENST00000354981.2	-	15	1687_1688	c.1530_1531insG	c.(1528-1533)ggcagtfs	p.S511fs	KIF16B_ENST00000408042.1_Frame_Shift_Ins_p.S511fs|KIF16B_ENST00000355755.3_Frame_Shift_Ins_p.S511fs|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	511	FHA.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AGAGTCACTGTCCCCCCGATAT	0.431													9	582	---	---	---	---					
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													20	331	---	---	---	---					
CST1	1469	broad.mit.edu	37	20	23729753	23729754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													12	336	---	---	---	---					
NCOA6	23054	broad.mit.edu	37	20	33337505	33337506	+	Frame_Shift_Ins	INS	-	-	G	rs61754975		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr20:33337505_33337506insG	ENST00000374796.2	-	10	5062_5063	c.2492_2493insC	c.(2491-2493)ccafs	p.P831fs	NCOA6_ENST00000359003.2_Frame_Shift_Ins_p.P831fs			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	831	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CCTGCACATGAGGGGGGACCAT	0.500													7	644	---	---	---	---					
RPN2	6185	broad.mit.edu	37	20	35860725	35860726	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr20:35860725_35860726insC	ENST00000237530.6	+	14	1919_1920	c.1608_1609insC	c.(1606-1611)agccccfs	p.SP536fs	RPN2_ENST00000373622.5_Frame_Shift_Ins_p.SP504fs|RPN2_ENST00000470352.1_Intron	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	536					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CTGAGAAGAGGCCCCCCACCGT	0.574													12	641	---	---	---	---					
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													15	234	---	---	---	---					
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													37	651	---	---	---	---					
TSHZ2	128553	broad.mit.edu	37	20	51872444	51872445	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr20:51872444_51872445insC	ENST00000371497.5	+	2	3334_3335	c.2447_2448insC	c.(2446-2448)gccfs	p.A816fs	TSHZ2_ENST00000329613.6_Frame_Shift_Ins_p.A813fs|TSHZ2_ENST00000603338.2_Frame_Shift_Ins_p.A813fs	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	816					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCCTCCAGGGTCCCCCCCATGA	0.550													7	139	---	---	---	---					
PMEPA1	56937	broad.mit.edu	37	20	56227348	56227349	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr20:56227348_56227349insG	ENST00000341744.3	-	4	943_944	c.624_625insC	c.(622-627)ccgcagfs	p.Q209fs	PMEPA1_ENST00000395814.1_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000265626.4_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000347215.4_Frame_Shift_Ins_p.Q174fs|PMEPA1_ENST00000395816.3_Frame_Shift_Ins_p.Q159fs	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	209					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GAGTTACTGCTGGGGGGGCAGG	0.683													14	94	---	---	---	---					
ITSN1	6453	broad.mit.edu	37	21	35122566	35122567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr21:35122566_35122567insC	ENST00000381318.3	+	6	753_754	c.465_466insC	c.(463-468)gtccccfs	p.VP155fs	ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.VP155fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.VP118fs|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.VP155fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	155					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAGCAGCTGTGCCCCCCCTGGC	0.525													9	191	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)ccaaaafs	p.PK1092fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1092	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406													13	969	---	---	---	---					
TSPEAR	54084	broad.mit.edu	37	21	45987772	45987773	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr21:45987772_45987773insG	ENST00000323084.4	-	2	264_265	c.199_200insC	c.(199-201)cacfs	p.H67fs	TSPEAR_ENST00000397916.1_5'UTR	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	67					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GCTCATGGTGCGGGGGGCGGCT	0.564													7	214	---	---	---	---					
MCM3AP	8888	broad.mit.edu	37	21	47663396	47663397	+	Frame_Shift_Ins	INS	-	-	G	rs34589822	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr21:47663396_47663397insG	ENST00000397708.1	-	25	5532_5533	c.5278_5279insC	c.(5278-5280)gctfs	p.A1760fs	MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.A1760fs|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000455567.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1760					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AACAGGAAGCCGGGGGGGCGTC	0.525													16	289	---	---	---	---					
MCM3AP	8888	broad.mit.edu	37	21	47666704	47666705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr21:47666704_47666705insG	ENST00000397708.1	-	22	4640_4641	c.4386_4387insC	c.(4384-4389)ccaaatfs	p.N1463fs	MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.N1463fs|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000455567.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1463					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTCTTCATTTTGGGGGGAAGCA	0.609													14	420	---	---	---	---					
BMS1P20	96610	broad.mit.edu	37	22	22661173	22661174	+	RNA	INS	-	-	C	rs7410785		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr22:22661173_22661174insC	ENST00000426066.1	+	0	265_266					NR_027293.1																						ATACAGGTTTTCCCCCCCCACC	0.406													8	168	---	---	---	---					
ZNF280A	129025	broad.mit.edu	37	22	22869526	22869527	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr22:22869526_22869527insG	ENST00000302097.3	-	2	680_681	c.428_429insC	c.(427-429)cggfs	p.R143fs		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ACTGAGTCCCTGGGGGGAGCGA	0.455													9	362	---	---	---	---					
OSBP2	23762	broad.mit.edu	37	22	31289119	31289120	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr22:31289119_31289120insC	ENST00000332585.6	+	9	1984_1985	c.1880_1881insC	c.(1879-1881)cccfs	p.P627fs	OSBP2_ENST00000382310.3_Frame_Shift_Ins_p.P578fs|OSBP2_ENST00000446658.2_Frame_Shift_Ins_p.P626fs|OSBP2_ENST00000407373.1_Frame_Shift_Ins_p.P454fs|OSBP2_ENST00000496575.1_Intron|OSBP2_ENST00000437268.2_Frame_Shift_Ins_p.P369fs|OSBP2_ENST00000401475.1_Frame_Shift_Ins_p.P260fs|OSBP2_ENST00000535268.1_Frame_Shift_Ins_p.P171fs|OSBP2_ENST00000403222.3_Frame_Shift_Ins_p.P461fs	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	627					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GTGAGCCACCACCCCCCCTCAG	0.594													7	93	---	---	---	---					
HMGXB4	10042	broad.mit.edu	37	22	35679956	35679957	+	Splice_Site	INS	-	-	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr22:35679956_35679957insA	ENST00000216106.5	+	6	1345_1346	c.1215_splice	c.e6-1	p.Q406_splice	HMGXB4_ENST00000444518.2_Splice_Site_p.Q297_splice	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	406					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CGGCATTAGCCAAAAAAGAAGA	0.406													7	285	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr22:42610947_42610948insG	ENST00000359486.3	-	1	500_501	c.364_365insC	c.(364-366)gggfs	p.G122fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGCTCCCCTGGGGGGGTCCA	0.564													26	567	---	---	---	---					
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr22:47188443_47188444insC	ENST00000337137.4	+	2	255_256	c.89_90insC	c.(88-90)cccfs	p.P30fs	TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	30						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGTGCCCAGCACCCCCCCTTTG	0.569													26	527	---	---	---	---					
ZNF645	158506	broad.mit.edu	37	X	22291220	22291221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chrX:22291220_22291221insG	ENST00000323684.1	+	1	156_157	c.112_113insG	c.(112-114)gggfs	p.G38fs		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	38						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TGGTTACCGTTGGGGGGACATT	0.351													8	403	---	---	---	---					
CHDC2	286464	broad.mit.edu	37	X	36122660	36122661	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chrX:36122660_36122661insC	ENST00000378660.1	+	8	1085_1086	c.897_898insC	c.(895-900)atccccfs	p.IP299fs	CHDC2_ENST00000313548.4_Frame_Shift_Ins_p.IP299fs					calponin homology domain containing 2																		GCAATAATATGCCCCCCATATG	0.351													9	522	---	---	---	---					
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	Frame_Shift_Ins	INS	-	-	G	rs41305745	by1000genomes	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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	595	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													13	1183	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													22	732	---	---	---	---					
ZC3H12B	340554	broad.mit.edu	37	X	64722003	64722004	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chrX:64722003_64722004insC	ENST00000338957.4	+	5	1492_1493	c.1425_1426insC	c.(1423-1428)ccccccfs	p.PP475fs	ZC3H12B_ENST00000423889.3_Frame_Shift_Ins_p.PP464fs	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	464							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCACAATCCCACCCCCCAAAAG	0.594													7	315	---	---	---	---					
IL2RG	3561	broad.mit.edu	37	X	70327613	70327614	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chrX:70327613_70327614insG	ENST00000374202.2	-	8	1173_1174	c.1082_1083insC	c.(1081-1083)ctgfs	p.L361fs	IL2RG_ENST00000456850.2_Frame_Shift_Ins_p.L171fs|IL2RG_ENST00000374188.3_Frame_Shift_Ins_p.L90fs	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	361					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GGGTGTAACATGGGGGGGCCCA	0.584									Severe Combined Immunodeficiency, X-linked				9	103	---	---	---	---					
TSIX	9383	broad.mit.edu	37	X	73047124	73047125	+	RNA	DEL	AC	AC	-			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chrX:73047124_73047125delAC	ENST00000604411.1	+	0	35085_35086				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GCCACACATGACACACACACAC	0.470													8	356	---	---	---	---					
KIAA2022	340533	broad.mit.edu	37	X	73963268	73963269	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chrX:73963268_73963269insC	ENST00000373468.1	-	3	1774_1775	c.1123_1124insG	c.(1123-1125)ggafs	p.G375fs	KIAA2022_ENST00000055682.5_Frame_Shift_Ins_p.G375fs			Q5QGS0	K2022_HUMAN	KIAA2022	375					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTATCTTCCTCCCCCCAGATG	0.475													18	933	---	---	---	---					
GPRASP1	9737	broad.mit.edu	37	X	101912087	101912088	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chrX:101912087_101912088insG	ENST00000537097.1	+	6	4059_4060	c.3246_3247insG	c.(3244-3249)ttggggfs	p.LG1082fs	GPRASP1_ENST00000361600.5_Frame_Shift_Ins_p.LG1082fs|GPRASP1_ENST00000415986.1_Frame_Shift_Ins_p.LG1082fs|GPRASP1_ENST00000444152.1_Frame_Shift_Ins_p.LG1082fs|RP4-769N13.7_ENST00000602441.1_RNA	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1082	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GTGAAATGTTTGGGGGCAAACC	0.485													8	1084	---	---	---	---					
RAB40AL	282808	broad.mit.edu	37	X	102192383	102192384	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chrX:102192383_102192384insG	ENST00000218249.5	+	1	184_185	c.137_138insG	c.(136-138)cggfs	p.R46fs		NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	46					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						TACAGTCACCTGGGGGGAATCG	0.599													8	586	---	---	---	---					
IGSF1	3547	broad.mit.edu	37	X	130415907	130415908	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chrX:130415907_130415908insG	ENST00000370904.1	-	14	2140_2141	c.1230_1231insC	c.(1228-1233)ccaaccfs	p.T411fs	IGSF1_ENST00000361420.3_Frame_Shift_Ins_p.T420fs|IGSF1_ENST00000370903.3_Frame_Shift_Ins_p.T420fs|IGSF1_ENST00000370910.1_Frame_Shift_Ins_p.T411fs			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	420					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGGGAGGGTTTGGGGGGCTTAT	0.505													10	311	---	---	---	---					
MAP7D3	79649	broad.mit.edu	37	X	135314193	135314194	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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													26	624	---	---	---	---					
GPR112	139378	broad.mit.edu	37	X	135426885	135426886	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chrX:135426885_135426886insA	ENST00000394143.1	+	6	1311_1312	c.1020_1021insA	c.(1018-1023)ataaaafs	p.IK340fs	GPR112_ENST00000287534.4_Frame_Shift_Ins_p.IK277fs|GPR112_ENST00000412101.1_Frame_Shift_Ins_p.IK135fs|GPR112_ENST00000394141.1_Frame_Shift_Ins_p.IK135fs|GPR112_ENST00000370652.1_Frame_Shift_Ins_p.IK340fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	340					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCAATTCCATGAAAAAAACGAA	0.386													8	1038	---	---	---	---					
GPR112	139378	broad.mit.edu	37	X	135455155	135455156	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chrX:135455155_135455156insG	ENST00000394143.1	+	15	7999_8000	c.7708_7709insG	c.(7708-7710)gggfs	p.G2570fs	GPR112_ENST00000287534.4_Frame_Shift_Ins_p.G2368fs|GPR112_ENST00000412101.1_Frame_Shift_Ins_p.G2365fs|GPR112_ENST00000394141.1_Frame_Shift_Ins_p.G2365fs|GPR112_ENST00000370652.1_Frame_Shift_Ins_p.G2570fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2570					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R2570L(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGCTGTGCTGCGGGGGGACCAC	0.530													23	2096	---	---	---	---					
PASD1	139135	broad.mit.edu	37	X	150842424	150842425	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	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	447	---	---	---	---					
NAV1	89796	broad.mit.edu	37	1	201617945	201617946	+	In_Frame_Ins	INS	-	-	CGG			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr1:201617945_201617946insCGG	ENST00000367296.4	+	1	569_570	c.149_150insCGG	c.(148-150)cgg>cCGGgg	p.50_50R>PG	NAV1_ENST00000367302.1_In_Frame_Ins_p.63_63R>PG|NAV1_ENST00000367297.4_In_Frame_Ins_p.50_50R>PG|NAV1_ENST00000367300.3_In_Frame_Ins_p.50_50R>PG|NAV1_ENST00000295624.6_In_Frame_Ins_p.50_50R>PG	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	50					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						gccaaggcgcccggcggcggcg	0.782													16	9	---	---	---	---					
BTN2A3P	54718	broad.mit.edu	37	6	26430816	26430817	+	RNA	INS	-	-	A	rs34293101		TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr6:26430816_26430817insA	ENST00000466808.2	+	0	1447																											agctcagtctcaaaaaaaaaaa	0.540													2	4	---	---	---	---					
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs60664426		TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)del	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis|rRNA processing	nucleolus		p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777													4	6	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	by1000genomes	TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gct>g	p.VA777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682).		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635													7	157	---	---	---	---					
UBE4B	10277	broad.mit.edu	37	1	10190856	10190877	+	Splice_Site	DEL	CTTAGAGCTCGGAAGGGTAAGT	CTTAGAGCTCGGAAGGGTAAGT	-	rs141707832		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:10190856_10190877delCTTAGAGCTCGGAAGGGTAAGT	ENST00000377157.3	+	13	2222_2237	c.1176_splice	c.e13+1	p.387_splice	UBE4B_ENST00000253251.8_Splice_Site_p.503_splice|UBE4B_ENST00000475795.1_3'UTR|UBE4B_ENST00000343090.6_Splice_Site_p.632_splice	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	632					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TGCAGCATTACTTAGAGCTCGGAAGGGTAAGTGTTCAGAAAA	0.423													8	260	---	---	---	---					
VPS13D	55187	broad.mit.edu	37	1	12422832	12422833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	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													13	734	---	---	---	---					
PRAMEF6	440561	broad.mit.edu	37	1	13109019	13109020	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:13109019_13109020insG	ENST00000376182.1	-	4	1348_1349	c.1249_1250insC	c.(1249-1251)ggafs	p.G417fs	PRAMEF6_ENST00000414205.2_Frame_Shift_Ins_p.G417fs|PRAMEF6_ENST00000376192.5_Intron			Q5VXH4	PRAM6_HUMAN	PRAME family member 6	417										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATAACTCTCCCGGGGGGCAGGA	0.520													7	368	---	---	---	---					
NBPF3	84224	broad.mit.edu	37	1	21804665	21804666	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:21804665_21804666insC	ENST00000318220.6	+	12	1901_1902	c.853_854insC	c.(853-855)cccfs	p.P285fs	NBPF3_ENST00000342104.5_Frame_Shift_Ins_p.P366fs|NBPF3_ENST00000318249.5_Frame_Shift_Ins_p.P341fs|NBPF3_ENST00000454000.2_Frame_Shift_Ins_p.P271fs			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	341	NBPF 1.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGAGGAGGAAGCCCCCCAGGAG	0.500													9	505	---	---	---	---					
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:22838561_22838563delAAG	ENST00000404138.1	+	12	2906_2908	c.2395_2397delAAG	c.(2395-2397)del	p.K803del	ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	803					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517													8	237	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5539-5544)ggggggfs	p.GG1847fs	ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.G1848fs*6(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								12	374	---	---	---	---					
PUM1	9698	broad.mit.edu	37	1	31406073	31406074	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:31406073_31406074insG	ENST00000373747.3	-	22	3653_3654	c.3554_3555insC	c.(3553-3555)caafs	p.Q1185fs	PUM1_ENST00000373741.4_Frame_Shift_Ins_p.Q1220fs|PUM1_ENST00000373742.2_Frame_Shift_Ins_p.Q1123fs|PUM1_ENST00000440538.2_Frame_Shift_Ins_p.Q1158fs|PUM1_ENST00000257075.5_Frame_Shift_Ins_p.Q1182fs|PUM1_ENST00000426105.2_Frame_Shift_Ins_p.Q1184fs|PUM1_ENST00000424085.2_Frame_Shift_Ins_p.Q940fs|PUM1_ENST00000423018.2_Frame_Shift_Ins_p.Q1040fs	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1182					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TGATACCATTAGGGGGGCCACA	0.525													12	552	---	---	---	---					
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:42898878_42898879insG	ENST00000372565.3	-	7	1179_1180	c.910_911insC	c.(910-912)aaafs	p.K304fs	ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs|ZMYND12_ENST00000475426.1_5'UTR	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	304						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATGGTTTTTTGGGGGGCTTTG	0.411													7	469	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)ccctatfs	p.Y118fs	FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594													15	344	---	---	---	---					
ROR1	4919	broad.mit.edu	37	1	64516358	64516359	+	Splice_Site	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:64516358_64516359insC	ENST00000371079.1	+	4	827_828	c.451_splice	c.e4-1	p.A151_splice	ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Splice_Site_p.A151_splice	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	151					transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						ATTTCTTCAGGCCCCCCTCCCA	0.396													7	572	---	---	---	---					
CACHD1	57685	broad.mit.edu	37	1	65143921	65143922	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:65143921_65143922insC	ENST00000371073.2	+	23	3172_3173	c.3172_3173insC	c.(3172-3174)cccfs	p.P1058fs	CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.P1007fs|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1058					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACCCTACTGTGCCCCCCAGAAA	0.485													7	128	---	---	---	---					
JAK1	3716	broad.mit.edu	37	1	65325832	65325833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:65325832_65325833insG	ENST00000342505.4	-	9	1537_1538	c.1289_1290insC	c.(1288-1290)cttfs	p.L430fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	430					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GGACGATCAACGGGGGGGCCAC	0.540			Mis		ALL								8	218	---	---	---	---					
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	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													12	167	---	---	---	---					
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	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													15	340	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	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													32	472	---	---	---	---					
FAM212B	55924	broad.mit.edu	37	1	112269658	112269659	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:112269658_112269659insG	ENST00000357260.5	-	2	1006_1007	c.825_826insC	c.(823-828)cccaagfs	p.K276fs	FAM212B_ENST00000444059.2_Frame_Shift_Ins_p.K261fs|FAM212B_ENST00000534365.1_Intron	NM_019099.4	NP_061972.1	Q9NTI7	CA183_HUMAN	family with sequence similarity 212, member B	276										cervix(1)|endometrium(1)	2						GGGCAGCTTGTGGGGGGATTCT	0.574													16	617	---	---	---	---					
OLFML3	56944	broad.mit.edu	37	1	114523958	114523959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:114523958_114523959insC	ENST00000369551.1	+	4	1016_1017	c.728_729insC	c.(727-729)accfs	p.T243fs	OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.T243fs|OLFML3_ENST00000320334.4_Frame_Shift_Ins_p.T263fs			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	263	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGGGCTGATCCCCCCCTACG	0.559													10	278	---	---	---	---					
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	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													12	346	---	---	---	---					
OTUD7B	56957	broad.mit.edu	37	1	149915983	149915984	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:149915983_149915984insG	ENST00000369135.3	-	12	2598_2599	c.2304_2305insC	c.(2302-2307)ccaccgfs	p.P769fs		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	769					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GCCACTCGGTAGGGGGGTGGTA	0.609													8	127	---	---	---	---					
C1orf51	148523	broad.mit.edu	37	1	150259011	150259012	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:150259011_150259012insC	ENST00000290363.5	+	5	1252_1253	c.803_804insC	c.(802-804)accfs	p.T268fs	C1orf51_ENST00000369095.1_Frame_Shift_Ins_p.T268fs|C1orf51_ENST00000369094.1_Frame_Shift_Ins_p.T180fs	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	268										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAATTTGCAACCCCCCTCTCA	0.520													9	890	---	---	---	---					
RFX5	5993	broad.mit.edu	37	1	151318740	151318741	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:151318740_151318741insG	ENST00000290524.4	-	3	234_235	c.56_57insC	c.(55-57)cggfs	p.R19fs	RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	19						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCACCACCTGGGGGGGCCCT	0.554													14	501	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cagcfs	p.HS1901fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901							calcium ion binding|structural molecule activity	p.H1901fs*30(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515													12	1547	---	---	---	---					
FAM189B	10712	broad.mit.edu	37	1	155221332	155221333	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:155221332_155221333insG	ENST00000361361.2	-	7	1363_1364	c.854_855insC	c.(853-855)ctcfs	p.L285fs	FAM189B_ENST00000472550.1_5'UTR|FAM189B_ENST00000368368.3_Frame_Shift_Ins_p.L267fs|FAM189B_ENST00000350210.2_Frame_Shift_Ins_p.L189fs	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	285						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						CCTCATAAGAAGGGGGGCAATC	0.569													7	398	---	---	---	---					
MEF2D	4209	broad.mit.edu	37	1	156438753	156438754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:156438753_156438754insC	ENST00000348159.4	-	10	1545_1546	c.1065_1066insG	c.(1063-1068)ggtgtcfs	p.V356fs	MEF2D_ENST00000464356.1_Intron|MEF2D_ENST00000360595.3_Frame_Shift_Ins_p.V349fs|MEF2D_ENST00000368240.2_Frame_Shift_Ins_p.V349fs|MEF2D_ENST00000353795.3_Frame_Shift_Ins_p.V310fs|MEF2D_ENST00000340875.5_Frame_Shift_Ins_p.V355fs	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	356					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTAGCGACAGCCCCCCAGGTG	0.604													7	216	---	---	---	---					
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:156708444_156708445insG	ENST00000368211.4	-	2	190_191	c.52_53insC	c.(52-54)ttafs	p.L18fs	MRPL24_ENST00000361531.2_Frame_Shift_Ins_p.L18fs	NM_024540.3|NM_145729.2	NP_078816.2|NP_663781.1	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													7	117	---	---	---	---					
KIRREL	55243	broad.mit.edu	37	1	158058202	158058203	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:158058202_158058203insC	ENST00000368172.1	+	4	408_409	c.396_397insC	c.(394-399)aaccccfs	p.NP132fs	KIRREL_ENST00000360089.4_Frame_Shift_Ins_p.NP170fs|KIRREL_ENST00000359209.6_Frame_Shift_Ins_p.NP334fs|KIRREL_ENST00000416935.2_Frame_Shift_Ins_p.NP234fs|KIRREL_ENST00000392272.2_Frame_Shift_Ins_p.NP231fs|KIRREL_ENST00000368173.3_Frame_Shift_Ins_p.NP334fs			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	334	Ig-like C2-type 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGGTTGGGAATCCCCCCCTCAC	0.455													12	527	---	---	---	---					
IGSF9	57549	broad.mit.edu	37	1	159904586	159904587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:159904586_159904587insG	ENST00000368094.1	-	7	896_897	c.699_700insC	c.(697-702)ccagaafs	p.E234fs	IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.E234fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	234	Ig-like 3.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGCTGTTCTTGGGGGGCACCA	0.569													12	491	---	---	---	---					
ARHGAP30	257106	broad.mit.edu	37	1	161017984	161017985	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:161017984_161017985insG	ENST00000368013.3	-	12	3146_3147	c.2826_2827insC	c.(2824-2829)ccagccfs	p.A943fs	ARHGAP30_ENST00000368015.1_Frame_Shift_Ins_p.A766fs|ARHGAP30_ENST00000368016.3_Frame_Shift_Ins_p.A732fs	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	943					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AACTGTGGCTTGGGGGGCACCA	0.599													8	241	---	---	---	---					
TNN	63923	broad.mit.edu	37	1	175096158	175096159	+	Frame_Shift_Ins	INS	-	-	C	rs59588723	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:175096158_175096159insC	ENST00000239462.4	+	13	3095_3096	c.2982_2983insC	c.(2980-2985)acccccfs	p.TP994fs		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	994	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGACCTGGACGCCCCCCTCTGC	0.505													8	707	---	---	---	---					
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:201046125_201046126insC	ENST00000362061.3	-	12	1975_1976	c.1749_1750insG	c.(1747-1752)ggggtafs	p.V584fs	CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	584					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGTCATACCTCCCCCCAAAGA	0.574													10	433	---	---	---	---					
NAV1	89796	broad.mit.edu	37	1	201779175	201779176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:201779175_201779176insC	ENST00000367296.4	+	23	4923_4924	c.4503_4504insC	c.(4501-4506)gaccccfs	p.DP1501fs	NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1501					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGATGCAGAGCCCCCCGAGAT	0.525													11	667	---	---	---	---					
GOLT1A	127845	broad.mit.edu	37	1	204170835	204170836	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	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													10	867	---	---	---	---					
TMEM81	388730	broad.mit.edu	37	1	205052693	205052694	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:205052693_205052694insC	ENST00000367167.3	-	1	951_952	c.755_756insG	c.(754-756)gctfs	p.A252fs		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	252						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			ACTGCTGCAGGCCCCCCCTTAG	0.540													14	410	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396													14	656	---	---	---	---					
DIEXF	27042	broad.mit.edu	37	1	210014266	210014267	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:210014266_210014267insC	ENST00000491415.2	+	8	1408_1409	c.1351_1352insC	c.(1351-1353)cccfs	p.P451fs		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	451					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CCTCATTGCTTCCCCCCTGGGC	0.465													11	472	---	---	---	---					
HHAT	55733	broad.mit.edu	37	1	210560848	210560849	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:210560848_210560849insG	ENST00000367010.1	+	4	423_424	c.196_197insG	c.(196-198)gggfs	p.G66fs	HHAT_ENST00000391905.3_Frame_Shift_Ins_p.G66fs|HHAT_ENST00000413764.2_Frame_Shift_Ins_p.G66fs|HHAT_ENST00000261458.3_Frame_Shift_Ins_p.G66fs|HHAT_ENST00000545781.1_Frame_Shift_Ins_p.G3fs|HHAT_ENST00000308852.6_Frame_Shift_Ins_p.G21fs|HHAT_ENST00000545154.1_Frame_Shift_Ins_p.G67fs|HHAT_ENST00000541565.1_Frame_Shift_Ins_p.G66fs|HHAT_ENST00000537898.1_Frame_Shift_Ins_p.G66fs	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	66					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CTGGATGGAATGGGGGAAGCAG	0.465													7	608	---	---	---	---					
HHAT	55733	broad.mit.edu	37	1	210796965	210796966	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:210796965_210796966insG	ENST00000367010.1	+	11	1568_1569	c.1341_1342insG	c.(1339-1344)ctggggfs	p.LG447fs	HHAT_ENST00000391905.3_Frame_Shift_Ins_p.LG447fs|HHAT_ENST00000413764.2_Frame_Shift_Ins_p.LG447fs|HHAT_ENST00000261458.3_Frame_Shift_Ins_p.LG447fs|HHAT_ENST00000545781.1_Frame_Shift_Ins_p.LG384fs|HHAT_ENST00000308852.6_Frame_Shift_Ins_p.LG402fs|HHAT_ENST00000545154.1_Frame_Shift_Ins_p.LG448fs|HHAT_ENST00000541565.1_Frame_Shift_Ins_p.LG310fs|HHAT_ENST00000537898.1_Frame_Shift_Ins_p.LG382fs|HHAT_ENST00000367009.1_Frame_Shift_Ins_p.LG137fs	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	447					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	p.G448W(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TGGTATTTCTTGGGGGCAATGA	0.490													7	1418	---	---	---	---					
USH2A	7399	broad.mit.edu	37	1	215821895	215821896	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:215821895_215821896insG	ENST00000366943.2	-	66	14942_14943	c.14556_14557insC	c.(14554-14559)cctgttfs	p.V4853fs	USH2A_ENST00000307340.3_Frame_Shift_Ins_p.V4853fs			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4853	Fibronectin type-III 34.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGGGGAACATGGGGGGACTCC	0.540										HNSCC(13;0.011)			8	640	---	---	---	---					
EPHX1	2052	broad.mit.edu	37	1	226026383	226026384	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:226026383_226026384insC	ENST00000366837.4	+	4	589_590	c.393_394insC	c.(391-396)aaccccfs	p.NP131fs	EPHX1_ENST00000272167.5_Frame_Shift_Ins_p.NP131fs	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	131					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TCCACGTGAAGCCCCCCCAGCT	0.624													10	305	---	---	---	---					
TRIM17	51127	broad.mit.edu	37	1	228596934	228596935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:228596934_228596935insG	ENST00000366697.2	-	5	1777_1778	c.821_822insC	c.(820-822)cacfs	p.H274fs	TRIM17_ENST00000295033.3_Frame_Shift_Ins_p.H274fs|TRIM17_ENST00000456946.2_Frame_Shift_Ins_p.H274fs|TRIM17_ENST00000366698.2_Frame_Shift_Ins_p.H274fs|RP11-245P10.4_ENST00000436779.1_RNA			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	274					protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TGGGTCTGGTTGGGGGGGCAAC	0.579													10	178	---	---	---	---					
ACTA1	58	broad.mit.edu	37	1	229567546	229567547	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:229567546_229567547insC	ENST00000366684.3	-	6	1013_1014	c.911_912insG	c.(910-912)gacfs	p.D304fs	ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.D216fs	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	304					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	ACATCGTGGTGCCCCCCGACAT	0.589													7	237	---	---	---	---					
RAB11FIP5	26056	broad.mit.edu	37	2	73302654	73302655	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr2:73302654_73302655insG	ENST00000258098.6	-	5	2196_2197	c.1956_1957insC	c.(1954-1959)ccaatafs	p.I653fs	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	653					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GAAGGCTATTTGGGGGGGCCCG	0.629													10	110	---	---	---	---					
LINC00152	112597	broad.mit.edu	37	2	87865524	87865525	+	RNA	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr2:87865524_87865525insC	ENST00000409054.1	+	0	278					NR_015395.1																						AAAATAAATTTCCCCCCAGAAC	0.455													8	449	---	---	---	---					
IL1R2	7850	broad.mit.edu	37	2	102638681	102638682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr2:102638681_102638682insC	ENST00000332549.3	+	6	950_951	c.721_722insC	c.(721-723)cccfs	p.P241fs	IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.P241fs|IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.P241fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	241	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TGTGATCATTTCCCCCCTCAAG	0.490													11	531	---	---	---	---					
WDR33	55339	broad.mit.edu	37	2	128467384	128467385	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr2:128467384_128467385insG	ENST00000322313.4	-	19	3512_3513	c.3354_3355insC	c.(3352-3357)ccgaggfs	p.R1119fs		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1119					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCCCTTCCTCTGGGGGGAGCAC	0.545													8	474	---	---	---	---					
UGGT1	56886	broad.mit.edu	37	2	128867246	128867247	+	Frame_Shift_Ins	INS	-	-	T	rs138042550		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr2:128867246_128867247insT	ENST00000375990.3	+	5	778_779	c.375_376insT	c.(373-378)tcttttfs	p.SF125fs	UGGT1_ENST00000259253.6_Frame_Shift_Ins_p.SF149fs			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	149					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GATGTAATTCGTTTTTTTCAGT	0.371													7	297	---	---	---	---					
MAP3K19	80122	broad.mit.edu	37	2	135740765	135740766	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr2:135740765_135740766insC	ENST00000392915.1	-	9	3528_3529	c.3409_3410insG	c.(3409-3411)gggfs	p.G1137fs	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375845.3_Intron|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000392917.3_Intron					mitogen-activated protein kinase kinase kinase 19																		ttcatcgcccaccccCCAAGAT	0.376													7	236	---	---	---	---					
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr2:171240258_171240259insC	ENST00000334231.6	+	12	1251_1252	c.1251_1252insC	c.(1249-1254)aaccccfs	p.NP417fs	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs			Q8WXR4	MYO3B_HUMAN	myosin IIIB	408	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465													16	268	---	---	---	---					
OSBPL6	114880	broad.mit.edu	37	2	179196280	179196281	+	Splice_Site	INS	-	-	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr2:179196280_179196281insT	ENST00000190611.4	+	6	696_697	c.318_splice	c.e6-1	p.L107_splice	OSBPL6_ENST00000392505.2_Splice_Site_p.L107_splice|OSBPL6_ENST00000477097.1_3'UTR|OSBPL6_ENST00000315022.2_Splice_Site_p.L86_splice|OSBPL6_ENST00000409045.3_Splice_Site_p.L107_splice|OSBPL6_ENST00000409631.1_Splice_Site_p.L107_splice|OSBPL6_ENST00000359685.3_Splice_Site_p.L107_splice|OSBPL6_ENST00000357080.4_Splice_Site_p.L107_splice	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	107	PH.				lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTCTTGCAGCGTTTTTTTGTCC	0.361													7	337	---	---	---	---					
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cctfs	p.P206fs	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619													11	240	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	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													10	688	---	---	---	---					
RQCD1	9125	broad.mit.edu	37	2	219449363	219449364	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr2:219449363_219449364insT	ENST00000273064.6	+	4	724_725	c.349_350insT	c.(349-351)tttfs	p.F117fs	RQCD1_ENST00000542068.1_Frame_Shift_Ins_p.F117fs|RQCD1_ENST00000509807.2_Frame_Shift_Ins_p.F117fs|RQCD1_ENST00000295701.5_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	609	---	---	---	---					
TRIP12	9320	broad.mit.edu	37	2	230724115	230724116	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr2:230724115_230724116insT	ENST00000283943.5	-	3	451_452	c.273_274insA	c.(271-276)aacaaafs	p.NK91fs	TRIP12_ENST00000543084.1_Frame_Shift_Ins_p.NK133fs|TRIP12_ENST00000409677.1_Frame_Shift_Ins_p.NK133fs|TRIP12_ENST00000389044.4_Frame_Shift_Ins_p.NK133fs|TRIP12_ENST00000389045.3_Intron	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	91					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AGTGCTTTTGGTTTTTTTGCAG	0.436													9	297	---	---	---	---					
TRPM8	79054	broad.mit.edu	37	2	234879009	234879010	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr2:234879009_234879010insC	ENST00000324695.4	+	17	2334_2335	c.2294_2295insC	c.(2293-2295)cccfs	p.P765fs	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	765						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCGGTGCCACACCCCCCCGAGC	0.574													29	471	---	---	---	---					
SETD5	55209	broad.mit.edu	37	3	9517294	9517295	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr3:9517294_9517295insC	ENST00000402466.1	+	24	4322_4323	c.3554_3555insC	c.(3553-3555)accfs	p.T1185fs	SETD5_ENST00000406341.1_Frame_Shift_Ins_p.T1283fs|SETD5_ENST00000407969.1_Frame_Shift_Ins_p.T1302fs|SETD5_ENST00000302463.6_Frame_Shift_Ins_p.T1185fs|SETD5_ENST00000402198.1_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													7	234	---	---	---	---					
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs146316187		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr3:10088407_10088410delAGTA	ENST00000287647.3	+	15	1371	c.1278_splice	c.e15+1	p.426_splice	FANCD2_ENST00000383807.1_Splice_Site_p.426_splice|FANCD2_ENST00000383806.1_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				10	70	---	---	---	---					
THRB	7068	broad.mit.edu	37	3	24164402	24164403	+	Frame_Shift_Ins	INS	-	-	G	rs121918687		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr3:24164402_24164403insG	ENST00000396671.2	-	11	1706_1707	c.1358_1359insC	c.(1357-1359)cttfs	p.L453fs	THRB_ENST00000416420.1_Frame_Shift_Ins_p.L453fs|THRB_ENST00000356447.4_Frame_Shift_Ins_p.L453fs|THRB_ENST00000280696.5_Frame_Shift_Ins_p.L468fs	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	453	Interaction with NR2F6.|Ligand-binding.		P -> H (in GTHR).|P -> L (in GTHR).|P -> S (in GTHR).|P -> T (in GTHR; dbSNP:rs28933408).		regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	CCAAGAACAAAGGGGGGAAGAG	0.480													7	233	---	---	---	---					
VPRBP	9730	broad.mit.edu	37	3	51457614	51457615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr3:51457614_51457615insG	ENST00000335891.5	-	7	1471_1472	c.1462_1463insC	c.(1462-1464)gggfs	p.G488fs				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	937					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TAGCGGACCCTGGGGGGGCCGT	0.589													10	122	---	---	---	---					
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(124-129)ttggggfs	p.LG42fs	KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	42	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465													11	357	---	---	---	---					
MUC13	56667	broad.mit.edu	37	3	124646676	124646677	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr3:124646676_124646677insG	ENST00000311075.3	-	2	251_252	c.213_214insC	c.(211-216)cctaatfs	p.N72fs		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	72	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GTACTAATTATGGGGGGAGCAG	0.460													8	967	---	---	---	---					
SAMD7	344658	broad.mit.edu	37	3	169646267	169646268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr3:169646267_169646268insG	ENST00000428432.2	+	7	1331_1332	c.942_943insG	c.(940-945)atggggfs	p.MG314fs	SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	314										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGGTTACAATTGGGGGGAATCT	0.381													10	444	---	---	---	---					
PHC3	80012	broad.mit.edu	37	3	169890470	169890471	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr3:169890470_169890471insG	ENST00000494943.1	-	3	242_243	c.174_175insC	c.(172-177)ccgctcfs	p.L59fs	PHC3_ENST00000481639.1_Frame_Shift_Ins_p.L67fs|PHC3_ENST00000495893.1_Frame_Shift_Ins_p.L71fs|PHC3_ENST00000497658.1_Frame_Shift_Ins_p.L71fs|PHC3_ENST00000474275.1_Frame_Shift_Ins_p.L55fs|PHC3_ENST00000467570.1_Frame_Shift_Ins_p.L71fs			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	59					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GCAGCTGAGCTGGGGGGCCGAT	0.441													8	430	---	---	---	---					
LAMP3	27074	broad.mit.edu	37	3	182872079	182872079	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr3:182872079delT	ENST00000265598.3	-	2	405	c.150delA	c.(148-150)aafs	p.K50fs	LAMP3_ENST00000466939.1_Frame_Shift_Del_p.K26fs	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	50					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GCTGGACAGGTTTTTTTATGT	0.423													7	517	---	---	---	---					
KIAA0226	9711	broad.mit.edu	37	3	197427914	197427915	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr3:197427914_197427915insG	ENST00000273582.5	-	7	1195_1196	c.650_651insC	c.(649-651)cgtfs	p.R217fs	KIAA0226_ENST00000296343.5_Frame_Shift_Ins_p.R277fs|KIAA0226_ENST00000449205.1_Frame_Shift_Ins_p.R277fs|KIAA0226_ENST00000389665.5_Frame_Shift_Ins_p.R277fs	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	277	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		AGACTGAAACTGGGGGGGCTTG	0.554													11	94	---	---	---	---					
TBC1D1	23216	broad.mit.edu	37	4	38020014	38020014	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr4:38020014delA	ENST00000261439.4	+	4	1277	c.922delA	c.(922-924)aafs	p.K309fs	TBC1D1_ENST00000508802.1_Frame_Shift_Del_p.K309fs	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	309	PID.					nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCCTGACACCAAAAAAATAGC	0.313													8	108	---	---	---	---					
FIP1L1	81608	broad.mit.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	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								9	247	---	---	---	---					
ABCG2	9429	broad.mit.edu	37	4	89052270	89052271	+	Frame_Shift_Ins	INS	-	-	T	rs150450599	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr4:89052270_89052271insT	ENST00000237612.3	-	5	1018_1019	c.473_474insA	c.(472-474)agafs	p.R158fs	ABCG2_ENST00000515655.1_Frame_Shift_Ins_p.R158fs	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	158	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TAATCCGTTCGTTTTTTTCATG	0.426													10	1118	---	---	---	---					
HPGDS	27306	broad.mit.edu	37	4	95223320	95223321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr4:95223320_95223321insC	ENST00000295256.5	-	5	501_502	c.411_412insG	c.(409-414)gggagafs	p.R138fs		NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	138	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	AGCCATTCTCTCCCCCCTAAAT	0.351													9	659	---	---	---	---					
GAB1	2549	broad.mit.edu	37	4	144381536	144381537	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr4:144381536_144381537insC	ENST00000262995.4	+	9	2216_2217	c.1789_1790insC	c.(1789-1791)cccfs	p.P597fs	GAB1_ENST00000262994.4_Frame_Shift_Ins_p.P567fs|GAB1_ENST00000505913.1_Frame_Shift_Ins_p.P464fs	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	567					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GTTTCCCATGTCCCCCCGACCA	0.406													7	409	---	---	---	---					
FGG	2266	broad.mit.edu	37	4	155526058	155526059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr4:155526058_155526059insC	ENST00000404648.3	-	9	1528_1529	c.1289_1290insG	c.(1288-1290)ggcfs	p.G430fs	FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000336098.3_Frame_Shift_Ins_p.G430fs|FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	430	Platelet aggregation and Staphylococcus clumping.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CCTGTTTGGCTCCCCCCAGGTG	0.450													8	540	---	---	---	---					
TENM3	55714	broad.mit.edu	37	4	183609358	183609359	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr4:183609358_183609359insG	ENST00000511685.1	+	12	2198_2199	c.2075_2076insG	c.(2074-2076)aggfs	p.R692fs	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Frame_Shift_Ins_p.R692fs					teneurin transmembrane protein 3																		GGCGTTTGCATGGGGGGGACGT	0.589													9	243	---	---	---	---					
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	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													11	276	---	---	---	---					
MTRR	4552	broad.mit.edu	37	5	7875405	7875406	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr5:7875405_7875406insG	ENST00000264668.2	+	4	429_430	c.399_400insG	c.(397-402)aaggggfs	p.KG133fs	MTRR_ENST00000440940.2_Frame_Shift_Ins_p.KG106fs|MTRR_ENST00000502509.1_3'UTR|MTRR_ENST00000341013.6_Frame_Shift_Ins_p.R55fs	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	133	Flavodoxin-like.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	ACTTTTGCAATGGGGGGAAGAT	0.406													7	496	---	---	---	---					
MYO10	4651	broad.mit.edu	37	5	16694605	16694606	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr5:16694605_16694606insC	ENST00000513610.1	-	27	4128_4129	c.3674_3675insG	c.(3673-3675)gtcfs	p.V1225fs	MYO10_ENST00000274203.9_Frame_Shift_Ins_p.V582fs|MYO10_ENST00000427430.2_Frame_Shift_Ins_p.V582fs|MYO10_ENST00000505695.1_Frame_Shift_Ins_p.V564fs|MYO10_ENST00000515803.1_Frame_Shift_Ins_p.V564fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1225	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	p.S1226fs*25(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCGTGGAGGAGCCCCCCCCTTT	0.564													22	178	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(928-933)atggggfs	p.MG310fs	SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	310					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TGGGTGTGATTGGGGGGCAGCT	0.520													23	1029	---	---	---	---					
MOCS2	4338	broad.mit.edu	37	5	52402939	52402940	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr5:52402939_52402940insG	ENST00000361377.4	-	3	293_294	c.252_253insC	c.(250-255)ccttagfs	p.*85fs	MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000396954.3_Frame_Shift_Ins_p.L22fs|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000510818.2_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													8	312	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71490419	71490420	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr5:71490419_71490420insA	ENST00000296755.7	+	5	1535_1536	c.1237_1238insA	c.(1237-1239)aaafs	p.K413fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	413						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)		CATTCTTTTCCAAAAAATGGGA	0.401													8	850	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	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													9	368	---	---	---	---					
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)taafs	p.*294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366													15	200	---	---	---	---					
DMXL1	1657	broad.mit.edu	37	5	118525523	118525524	+	Frame_Shift_Ins	INS	-	-	G	rs17144964	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr5:118525523_118525524insG	ENST00000311085.8	+	29	7336_7337	c.7256_7257insG	c.(7255-7257)ggtfs	p.G2419fs	DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.G2419fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2419										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GAGTCACTGGCGGTTAAAGAAA	0.421													12	586	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C	rs151053868		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)ggttacfs	p.Y2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421													14	444	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127627258	127627259	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr5:127627258_127627259insG	ENST00000508053.1	-	55	7228_7229	c.6254_6255insC	c.(6253-6255)cggfs	p.R2085fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R2085fs			P35556	FBN2_HUMAN	fibrillin 2	2085	EGF-like 35; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GTACAAAGCCAGGGGGGCAGAG	0.431													7	484	---	---	---	---					
RAPGEF6	51735	broad.mit.edu	37	5	130782331	130782332	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr5:130782331_130782332insT	ENST00000509018.1	-	22	3470_3471	c.3265_3266insA	c.(3265-3267)ggcfs	p.G1089fs	RAPGEF6_ENST00000512052.1_Frame_Shift_Ins_p.G812fs|RAPGEF6_ENST00000308008.6_Frame_Shift_Ins_p.G1089fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Ins_p.G1102fs|FNIP1_ENST00000514667.1_Frame_Shift_Ins_p.G1139fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Ins_p.G1097fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Ins_p.G1097fs	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1089					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GCGGCGTGCCCTTTTTTTGTGA	0.450													9	315	---	---	---	---					
TCF7	6932	broad.mit.edu	37	5	133451679	133451680	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr5:133451679_133451680insC	ENST00000395029.1	+	3	591_592	c.396_397insC	c.(394-399)ccccccfs	p.PP132fs	TCF7_ENST00000432532.2_Frame_Shift_Ins_p.PP17fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.PP132fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.PP132fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.PP132fs|TCF7_ENST00000321584.4_Frame_Shift_Ins_p.PP132fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.PP17fs|TCF7_ENST00000518915.1_Frame_Shift_Ins_p.PP17fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.PP17fs|TCF7_ENST00000378560.4_Frame_Shift_Ins_p.PP17fs			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	132					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCATTACCCACCCCCCTCGGG	0.644													2	4	---	---	---	---					
TMCO6	55374	broad.mit.edu	37	5	140022171	140022172	+	Splice_Site	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr5:140022171_140022172insC	ENST00000394671.3	+	6	705_706	c.603_splice	c.e6-1	p.P202_splice	TMCO6_ENST00000252100.6_Splice_Site_p.P202_splice|TMCO6_ENST00000537378.1_5'UTR|NDUFA2_ENST00000510680.1_Intron	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	202					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACTTCCAGTCCCCCCATGTG	0.535													11	348	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141051692	141051693	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr5:141051692_141051693insC	ENST00000239440.4	-	10	1626_1627	c.1561_1562insG	c.(1561-1563)ggtfs	p.G521fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.G183fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.G443fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	521	Arf-GAP.				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						GCAGATGACCACCCCCAAATTG	0.609													8	1719	---	---	---	---					
ARHGAP26	23092	broad.mit.edu	37	5	142586762	142586763	+	Splice_Site	INS	-	-	C	rs144777273		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr5:142586762_142586763insC	ENST00000378004.3	+	21	2343_2344		c.e21-1		ARHGAP26_ENST00000486650.1_Intron|ARHGAP26_ENST00000274498.4_Splice_Site	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26						actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGTCTTGCAGCCCCCCGAATC	0.579													8	423	---	---	---	---					
LARS	51520	broad.mit.edu	37	5	145523013	145523014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr5:145523013_145523014insC	ENST00000394434.2	-	19	2004_2005	c.1838_1839insG	c.(1837-1839)gaafs	p.E613fs	LARS_ENST00000510191.1_Frame_Shift_Ins_p.E559fs|LARS_ENST00000545646.1_Frame_Shift_Ins_p.E567fs|LARS_ENST00000274562.9_Frame_Shift_Ins_p.E586fs	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	613					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CATGCAAGTTACCCCCCTGCAA	0.450													8	1348	---	---	---	---					
LARP1	23367	broad.mit.edu	37	5	154173389	154173390	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr5:154173389_154173390insC	ENST00000336314.4	+	6	691_692	c.667_668insC	c.(667-669)cccfs	p.P223fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	300							protein binding|RNA binding	p.T303fs*19(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGTGCCCGTGGCCCCCCCCACC	0.644													29	251	---	---	---	---					
ADAM19	8728	broad.mit.edu	37	5	156915296	156915297	+	Frame_Shift_Ins	INS	-	-	G	rs11466804	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr5:156915296_156915297insG	ENST00000257527.4	-	21	2604_2605	c.2526_2527insC	c.(2524-2529)cccaccfs	p.T843fs	ADAM19_ENST00000430702.2_Frame_Shift_Ins_p.T576fs|ADAM19_ENST00000394020.1_Frame_Shift_Ins_p.T845fs|ADAM19_ENST00000517905.1_Frame_Shift_Ins_p.T843fs	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	843					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAATTTGGTGCGGGGGGAATTG	0.564													11	358	---	---	---	---					
STK10	6793	broad.mit.edu	37	5	171517344	171517345	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr5:171517344_171517345insT	ENST00000176763.5	-	10	1919_1920	c.1576_1577insA	c.(1576-1578)cctfs	p.P526fs		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	526							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGCTTGAGGGTTTTTTTGTAC	0.515													7	1012	---	---	---	---					
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Frame_Shift_Ins	INS	-	-	C	rs55808116		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr6:10557409_10557410insC	ENST00000316170.3	+	1	1170_1171	c.753_754insC	c.(751-756)ccccccfs	p.PP251fs	GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	253						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGAAACCGCCTCCCCCCCATAA	0.485													17	392	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs			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													19	260	---	---	---	---					
KIF13A	63971	broad.mit.edu	37	6	17837307	17837308	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr6:17837307_17837308insC	ENST00000378814.5	-	11	955_956	c.956_957insG	c.(955-957)gaafs	p.E319fs	KIF13A_ENST00000259711.6_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378843.2_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378816.5_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378826.2_Frame_Shift_Ins_p.E319fs	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	319					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTTGGCTGTTGCCCCCCAAGTT	0.450													12	292	---	---	---	---					
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)agcfs	p.S324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411													23	1510	---	---	---	---					
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr6:29627216_29627217insC	ENST00000376894.4	+	2	327_328	c.209_210insC	c.(208-210)cccfs	p.P70fs	MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000490427.1_Intron|MOG_ENST00000483013.1_Intron|MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	70	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		p.F73fs*29(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGGTGGTACCGCCCCCCCTTCT	0.569													16	328	---	---	---	---					
RNF39	80352	broad.mit.edu	37	6	30040952	30040952	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr6:30040952delT	ENST00000244360.6	-	3	761	c.664delA	c.(664-666)tgfs	p.M222fs	RNF39_ENST00000376751.3_Frame_Shift_Del_p.M222fs	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	222	B30.2/SPRY.					cytoplasm	zinc ion binding										CTATGAAGCATTTTTTTGACC	0.408													7	1351	---	---	---	---					
BAG6	7917	broad.mit.edu	37	6	31608920	31608921	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr6:31608920_31608921insC	ENST00000404765.2	-	20	3036_3037	c.2747_2748insG	c.(2746-2748)gcafs	p.A916fs	BAG6_ENST00000375976.4_Frame_Shift_Ins_p.A880fs|BAG6_ENST00000362049.6_Frame_Shift_Ins_p.A880fs|BAG6_ENST00000439687.2_Frame_Shift_Ins_p.A754fs|BAG6_ENST00000375964.6_Frame_Shift_Ins_p.A886fs|BAG6_ENST00000211379.5_Frame_Shift_Ins_p.A880fs			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	886					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CCATCTGCTGTCCCCCCAAGCA	0.515													7	470	---	---	---	---					
HLA-DRB1	3123	broad.mit.edu	37	6	32557568	32557569	+	Translation_Start_Site	INS	-	-	AT	rs17204758		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr6:32557568_32557569insAT	ENST00000360004.5	-	0	56_57					NM_002124.3	NP_002115.2			major histocompatibility complex, class II, DR beta 1											large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GCAAGTCTCACTCAGGGAGAAC	0.540										Multiple Myeloma(14;0.17)			12	18	---	---	---	---					
RING1	6015	broad.mit.edu	37	6	33178989	33178990	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	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													13	338	---	---	---	---					
VPS52	6293	broad.mit.edu	37	6	33219719	33219720	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr6:33219719_33219720insG	ENST00000445902.2	-	18	2041_2042	c.1823_1824insC	c.(1822-1824)cttfs	p.L608fs	HCG25_ENST00000450514.1_RNA|VPS52_ENST00000436044.2_Frame_Shift_Ins_p.L483fs|HCG25_ENST00000427196.1_RNA|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	608					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AACCCCCAAAAGGGGGAGACAG	0.480													34	199	---	---	---	---					
UHRF1BP1	54887	broad.mit.edu	37	6	34791081	34791082	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr6:34791081_34791082insC	ENST00000192788.5	+	4	465_466	c.294_295insC	c.(292-297)cgccccfs	p.RP98fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.RP98fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	98										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGATCCTCGGCCCCCCAATGG	0.446													14	1156	---	---	---	---					
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	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				26	307	---	---	---	---					
ICK	22858	broad.mit.edu	37	6	52883129	52883129	+	Splice_Site	DEL	T	T	-			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr6:52883129delT	ENST00000356971.3	-	8	1151	c.663_splice	c.e8+1	p.K221_splice	ICK_ENST00000350082.5_Splice_Site_p.K221_splice	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	221	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TATCATTACCTTTTTTGGTGT	0.502													7	983	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr6:55039410_55039411insC	ENST00000370862.3	+	1	361_362	c.25_26insC	c.(25-27)cccfs	p.P9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTGT	0.564													7	229	---	---	---	---					
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	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													9	471	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)gcafs	p.A623fs	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401													9	537	---	---	---	---					
UST	10090	broad.mit.edu	37	6	149395141	149395142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr6:149395141_149395142insC	ENST00000367463.4	+	8	1213_1214	c.1110_1111insC	c.(1108-1113)aaccccfs	p.NP370fs	UST_ENST00000466695.1_3'UTR	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	370					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		ACGTCAGCAAGCCCCCCCTGAG	0.490													10	209	---	---	---	---					
NOX3	50508	broad.mit.edu	37	6	155743925	155743926	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr6:155743925_155743926delCA	ENST00000159060.2	-	10	1312_1313	c.1210_1211delTG	c.(1210-1212)cfs	p.C404fs		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	404							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGCGGCAACGCACACACACACT	0.530													9	803	---	---	---	---					
ETV1	2115	broad.mit.edu	37	7	13975472	13975473	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr7:13975472_13975473insG	ENST00000343495.5	-	7	1098_1099	c.360_361insC	c.(358-363)cccaccfs	p.T121fs	ETV1_ENST00000399357.3_Intron|ETV1_ENST00000405358.4_Frame_Shift_Ins_p.T153fs|ETV1_ENST00000405218.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000403685.1_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000430479.1_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000405192.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000420159.2_Frame_Shift_Ins_p.T81fs|ETV1_ENST00000403527.1_Frame_Shift_Ins_p.T99fs|ETV1_ENST00000242066.5_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000476720.2_5'UTR			P50549	ETV1_HUMAN	ets variant 1	139					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTGGATGGTGTGGGGGGGTTGG	0.530			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								8	129	---	---	---	---					
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-378)accfs	p.T126fs	FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs|FKBP9_ENST00000538443.1_5'UTR|AVL9_ENST00000404479.1_Intron	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446													13	280	---	---	---	---					
ZCWPW1	55063	broad.mit.edu	37	7	100000150	100000151	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr7:100000150_100000151insT	ENST00000398027.2	-	16	1706_1707	c.1459_1460insA	c.(1459-1461)caafs	p.Q487fs	ZCWPW1_ENST00000360951.4_Intron|ZCWPW1_ENST00000324725.6_Frame_Shift_Ins_p.Q367fs|ZCWPW1_ENST00000490721.1_Frame_Shift_Ins_p.Q367fs	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	487							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTTGGCTTGGTTTTTTGGGTC	0.480													12	2937	---	---	---	---					
PCOLCE	5118	broad.mit.edu	37	7	100205413	100205414	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr7:100205413_100205414insC	ENST00000223061.5	+	8	1446_1447	c.1166_1167insC	c.(1165-1167)tccfs	p.S389fs		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	389	NTR.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	p.M392fs*>59(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCAAGCAGTGCCCCCCCATGA	0.510													8	110	---	---	---	---					
TNPO3	23534	broad.mit.edu	37	7	128610258	128610259	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr7:128610258_128610259insG	ENST00000393245.1	-	20	3016_3017	c.2643_2644insC	c.(2641-2646)ccatacfs	p.Y882fs	TNPO3_ENST00000471234.1_Frame_Shift_Ins_p.Y784fs|TNPO3_ENST00000265388.5_Frame_Shift_Ins_p.Y848fs|TNPO3_ENST00000471166.1_Frame_Shift_Ins_p.Y882fs|TNPO3_ENST00000482320.1_Frame_Shift_Ins_p.Y782fs	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	848					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GGTAGGGTATAGGGGGGGAGGC	0.485													37	630	---	---	---	---					
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr7:142612493_142612494insC	ENST00000265310.1	-	10	1617_1618	c.1269_1270insG	c.(1267-1272)ggcattfs	p.I424fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	424					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACATGGAATGGCCCCCCAAGAA	0.505													7	653	---	---	---	---					
SLC18A1	6570	broad.mit.edu	37	8	20004787	20004788	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr8:20004787_20004788insG	ENST00000440926.1	-	16	1915_1916	c.1445_1446insC	c.(1444-1446)cgcfs	p.R482fs	SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000276373.5_Frame_Shift_Ins_p.R482fs|SLC18A1_ENST00000265808.7_Frame_Shift_Ins_p.R450fs|SLC18A1_ENST00000519026.1_Frame_Shift_Ins_p.R450fs	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	482					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		CTTCCTTTGCCGGGGGGCTCCG	0.500													7	400	---	---	---	---					
DPYSL2	1808	broad.mit.edu	37	8	26513183	26513184	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr8:26513183_26513184insC	ENST00000311151.5	+	14	2092_2093	c.1680_1681insC	c.(1678-1683)gcccccfs	p.AP560fs	DPYSL2_ENST00000521913.1_Frame_Shift_Ins_p.AP524fs|DPYSL2_ENST00000523027.1_Frame_Shift_Ins_p.AP524fs	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	560					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GTATCGTGGCGCCCCCCGGTGG	0.644											OREG0018659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	423	---	---	---	---					
KLHL38	340359	broad.mit.edu	37	8	124664150	124664151	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr8:124664150_124664151insC	ENST00000325995.7	-	1	1039_1040	c.1016_1017insG	c.(1015-1017)gatfs	p.D339fs	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	339										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TGACAGCCATGCCCCCCAGCAC	0.589													8	355	---	---	---	---					
AGO2	27161	broad.mit.edu	37	8	141554344	141554345	+	Frame_Shift_Ins	INS	-	-	G	rs148575703	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr8:141554344_141554345insG	ENST00000220592.5	-	14	1918_1919	c.1806_1807insC	c.(1804-1809)ccccggfs	p.R603fs	AGO2_ENST00000519980.1_Frame_Shift_Ins_p.R603fs	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		CCATCCCCGGCGGGGGGGTGAG	0.644													7	262	---	---	---	---					
TEK	7010	broad.mit.edu	37	9	27204925	27204926	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr9:27204925_27204926insG	ENST00000380036.4	+	14	2668_2669	c.2226_2227insG	c.(2224-2229)ggggggfs	p.GG742fs	TEK_ENST00000406359.4_Frame_Shift_Ins_p.GG699fs|TEK_ENST00000519097.1_Frame_Shift_Ins_p.GG595fs	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	742					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CGGACCTCGGAGGGGGGAAGAT	0.510													9	348	---	---	---	---					
CCDC180	100499483	broad.mit.edu	37	9	100082417	100082418	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr9:100082417_100082418insC	ENST00000375202.2	+	25	2573_2574	c.1221_1222insC	c.(1219-1224)ctccccfs	p.LP407fs	CCDC180_ENST00000529487.1_Frame_Shift_Ins_p.LP407fs|CCDC180_ENST00000411667.2_Frame_Shift_Ins_p.LP404fs|CCDC180_ENST00000460482.2_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Frame_Shift_Ins_p.LP546fs|CCDC180_ENST00000395220.1_Frame_Shift_Ins_p.LP506fs					coiled-coil domain containing 180																		GTGACCTCCTGCCCCCCAGTTA	0.505													10	609	---	---	---	---					
TNC	3371	broad.mit.edu	37	9	117797538	117797539	+	Frame_Shift_Ins	INS	-	-	G	rs148674204	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr9:117797538_117797539insG	ENST00000350763.4	-	22	6142_6143	c.5731_5732insC	c.(5731-5733)ggcfs	p.G1911fs	TNC_ENST00000340094.3_Frame_Shift_Ins_p.G1547fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000346706.3_Frame_Shift_Ins_p.G1365fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.G1729fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.G1638fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.G1548fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.G1456fs	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													27	673	---	---	---	---					
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr9:118982329_118982330insC	ENST00000328252.3	+	5	2401_2402	c.2032_2033insC	c.(2032-2034)cccfs	p.P678fs	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	678					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTTGCCCTCGCCCCCCAAGTT	0.574													13	356	---	---	---	---					
MLLT10	8028	broad.mit.edu	37	10	21962451	21962452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr10:21962451_21962452insG	ENST00000377072.3	+	11	1572_1573	c.1224_1225insG	c.(1222-1227)gaggggfs	p.EG408fs	MLLT10_ENST00000377059.3_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000307729.7_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000446906.2_Frame_Shift_Ins_p.EG408fs	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	408	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V411fs*3(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGCCAGGAAGGGGGGGTAAA	0.436			T	"""MLL, PICALM, CDK6"""	AL								11	450	---	---	---	---					
PIP4K2A	5305	broad.mit.edu	37	10	22830827	22830828	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr10:22830827_22830828insG	ENST00000376573.4	-	8	1169_1170	c.941_942insC	c.(940-942)cgafs	p.R314fs	PIP4K2A_ENST00000545335.1_Frame_Shift_Ins_p.R255fs|PIP4K2A_ENST00000323883.7_Frame_Shift_Ins_p.R174fs	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	314	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CGGGGCTATCTGGGGGGGTTCC	0.584													8	151	---	---	---	---					
FAM21B	55747	broad.mit.edu	37	10	47909192	47909193	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr10:47909192_47909193insC	ENST00000358474.5	+	10	762_763	c.762_763insC	c.(760-765)acccccfs	p.TP254fs		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN	family with sequence similarity 21, member B	254					retrograde transport, endosome to Golgi	early endosome membrane|WASH complex				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						ACTTATTCACACCCCCCAAGCT	0.515													7	335	---	---	---	---					
C10orf71	118461	broad.mit.edu	37	10	50530937	50530938	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr10:50530937_50530938insC	ENST00000374144.3	+	3	635_636	c.347_348insC	c.(346-348)accfs	p.T116fs	C10orf71_ENST00000323868.4_Frame_Shift_Ins_p.T116fs			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	116										endometrium(1)	1						CCCAAAACCAGCCCCCCACCAA	0.545													8	465	---	---	---	---					
LGI1	9211	broad.mit.edu	37	10	95552601	95552602	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr10:95552601_95552602insC	ENST00000371418.4	+	6	865_866	c.605_606insC	c.(604-606)gccfs	p.A202fs	LGI1_ENST00000542308.1_Frame_Shift_Ins_p.A154fs|LGI1_ENST00000371413.3_Frame_Shift_Ins_p.A202fs	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	202	LRRCT.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	p.E205fs*9(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TACTGCGAAGGCCCCCCAGAAT	0.421													10	633	---	---	---	---					
TLX1NB	100038246	broad.mit.edu	37	10	102849502	102849503	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr10:102849502_102849503insC	ENST00000445873.1	-	3	1436_1437	c.160_161insG	c.(160-162)cccfs	p.P54fs		NM_001085398.1	NP_001078867.1	P0CAT3	TLXNB_HUMAN	TLX1 neighbor	54																	AAGAGTGGGGGCCCCACTCGGG	0.629													2	4	---	---	---	---					
TRUB1	142940	broad.mit.edu	37	10	116730191	116730192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	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	250	---	---	---	---					
LINC00959	387723	broad.mit.edu	37	10	131905959	131905960	+	RNA	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr10:131905959_131905960insG	ENST00000456581.1	-	0	114																											CTTTGCCTCCAGGGGGGGAAGG	0.530													10	184	---	---	---	---					
OR51E1	143503	broad.mit.edu	37	11	4674216	4674217	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr11:4674216_4674217insG	ENST00000396952.5	+	2	1110_1111	c.460_461insG	c.(460-462)gggfs	p.G154fs	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A155fs*3(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTGTGGTGCGGGGGGCTGCA	0.559													47	1048	---	---	---	---					
PAX6	5080	broad.mit.edu	37	11	31812316	31812317	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr11:31812316_31812317insG	ENST00000419022.1	-	13	1634_1635	c.1166_1167insC	c.(1165-1167)ccafs	p.P389fs	PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379132.3_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	375	Pro/Ser/Thr-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGTA	0.589									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				8	80	---	---	---	---					
OR4C3	256144	broad.mit.edu	37	11	48346881	48346882	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr11:48346881_48346882insT	ENST00000319856.4	+	1	410_411	c.389_390insT	c.(388-390)cttfs	p.L130fs		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTTGGAGCTCATTTTTTGGGAG	0.460													10	1879	---	---	---	---					
DDB1	1642	broad.mit.edu	37	11	61093159	61093160	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	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)					7	115	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr11:113076860_113076861insG	ENST00000316851.7	+	4	556_557	c.556_557insG	c.(556-558)gggfs	p.G186fs	NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495													15	1089	---	---	---	---					
OR10G7	390265	broad.mit.edu	37	11	123909635	123909636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr11:123909635_123909636insG	ENST00000330487.5	-	1	81_82	c.73_74insC	c.(73-75)cttfs	p.L25fs		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		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)		GATTCCAAAGAGGGGGGCGTCC	0.569													7	368	---	---	---	---					
IGSF9B	22997	broad.mit.edu	37	11	133807826	133807827	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr11:133807826_133807827insG	ENST00000321016.8	-	4	669_670	c.439_440insC	c.(439-441)gtafs	p.V147fs	IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.V147fs			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	147	Ig-like 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCGATGTACTGGGGGGGTGTT	0.574													10	96	---	---	---	---					
VWF	7450	broad.mit.edu	37	12	6153463	6153464	+	Frame_Shift_Ins	INS	-	-	G	rs137990643	by1000genomes	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr12:6153463_6153464insG	ENST00000261405.5	-	18	2689_2690	c.2435_2436insC	c.(2434-2436)cggfs	p.R812fs		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	812	E1.|TIL 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCACCATGCCCGGGGGGCAGAG	0.594													7	196	---	---	---	---					
MRPL51	51258	broad.mit.edu	37	12	6602094	6602095	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr12:6602094_6602095insG	ENST00000229238.3	-	2	584_585	c.123_124insC	c.(121-126)ccaagtfs	p.S42fs	MRPL51_ENST00000543164.1_5'UTR|MRPL51_ENST00000543703.1_Intron	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	42					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			kidney(2)|large_intestine(1)|lung(3)	6						TCAACCACTTTGGGGGGCGGGA	0.510													7	209	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-492)cggfs	p.R164fs	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAGA	0.564													11	252	---	---	---	---					
CLSTN3	9746	broad.mit.edu	37	12	7301638	7301639	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr12:7301638_7301639insC	ENST00000537408.1	+	12	2492_2493	c.1954_1955insC	c.(1954-1956)cccfs	p.P652fs	CLSTN3_ENST00000266546.6_Frame_Shift_Ins_p.P640fs			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	640					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TCAGCCTGACGCCCCCCAGATC	0.564													8	191	---	---	---	---					
A2ML1	144568	broad.mit.edu	37	12	9001442	9001443	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr12:9001442_9001443insC	ENST00000299698.7	+	16	2140_2141	c.1960_1961insC	c.(1960-1962)gagfs	p.E654fs	A2ML1_ENST00000539547.1_Frame_Shift_Ins_p.E163fs	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	498						extracellular space	endopeptidase inhibitor activity	p.S654L(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CCAAGGGCATTCGAGCCAGCGT	0.525													11	2076	---	---	---	---					
M6PR	4074	broad.mit.edu	37	12	9095101	9095102	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr12:9095101_9095102insC	ENST00000000412.3	-	6	1089_1090	c.621_622insG	c.(619-624)ggtcctfs	p.P208fs		NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)	208					endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)		TGGTATAGGAACCCCCCAACAA	0.450													8	463	---	---	---	---					
NCKAP1L	3071	broad.mit.edu	37	12	54914555	54914556	+	Frame_Shift_Ins	INS	-	-	C	rs148042893		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr12:54914555_54914556insC	ENST00000293373.6	+	17	1782_1783	c.1703_1704insC	c.(1702-1704)tccfs	p.S568fs	NCKAP1L_ENST00000545638.2_Frame_Shift_Ins_p.S518fs	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	568					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GCCATTGCTTTCCCCCTGATTT	0.470													7	2100	---	---	---	---					
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	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													8	2651	---	---	---	---					
OR6C4	341418	broad.mit.edu	37	12	55945453	55945454	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr12:55945453_55945454insG	ENST00000394256.2	+	1	471_472	c.443_444insG	c.(442-444)tggfs	p.W148fs	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TGCTCCTGGTTGGGGGGATTCC	0.455													12	652	---	---	---	---					
GPR182	11318	broad.mit.edu	37	12	57389022	57389023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr12:57389022_57389023insC	ENST00000300098.1	+	2	248_249	c.29_30insC	c.(28-30)gccfs	p.A10fs		NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	10						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						TGGGGGCCTGGCCCCTCGGAGG	0.594													11	190	---	---	---	---					
KIF5A	3798	broad.mit.edu	37	12	57972047	57972048	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	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													7	976	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	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													7	320	---	---	---	---					
UTP20	27340	broad.mit.edu	37	12	101680156	101680157	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr12:101680156_101680157insT	ENST00000261637.4	+	5	558_559	c.384_385insT	c.(382-387)gattttfs	p.DF128fs		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	128					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ACTTTCCAGAGTTTTTTTTGAC	0.396													15	1288	---	---	---	---					
BTBD11	121551	broad.mit.edu	37	12	107937777	107937778	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr12:107937777_107937778insC	ENST00000280758.5	+	3	1879_1880	c.1351_1352insC	c.(1351-1353)cccfs	p.P451fs	BTBD11_ENST00000420571.2_Frame_Shift_Ins_p.P451fs|BTBD11_ENST00000490090.2_Frame_Shift_Ins_p.P451fs	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	451						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CGGCAATGGCACCCCCCTGCAC	0.579													8	135	---	---	---	---					
OAS3	4940	broad.mit.edu	37	12	113388496	113388497	+	Splice_Site	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr12:113388496_113388497insG	ENST00000228928.7	+	7	1553		c.e7-1		RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa						interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TTCCCTCCACAGGGGGGCTCAT	0.594													7	595	---	---	---	---					
SLC8B1	80024	broad.mit.edu	37	12	113758305	113758306	+	Splice_Site	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr12:113758305_113758306insG	ENST00000552014.1	-	8	1042		c.e8-2		SLC24A6_ENST00000553238.1_Intron|SLC24A6_ENST00000546737.1_Intron|SLC24A6_ENST00000202831.3_Splice_Site			Q6J4K2	NCKX6_HUMAN							response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CGCCAGCGCCTGGGGGGAGGAG	0.644													8	671	---	---	---	---					
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	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													7	149	---	---	---	---					
GATC	283459	broad.mit.edu	37	12	120894973	120894974	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr12:120894973_120894974insC	ENST00000551765.1	+	3	392_393	c.349_350insC	c.(349-351)cccfs	p.P117fs	AL021546.6_ENST00000551806.1_Frame_Shift_Ins_p.A148fs	NM_176818.2	NP_789788.1	O43716	GATCL_HUMAN	glutamyl-tRNA(Gln) amidotransferase, subunit C	117					regulation of translational fidelity					breast(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTACTTTGTGGCCCCCCCAGGT	0.475											OREG0022192	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	97	---	---	---	---					
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	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													17	372	---	---	---	---					
ATP7B	540	broad.mit.edu	37	13	52532497	52532498	+	Frame_Shift_Ins	INS	-	-	G	rs137853287		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr13:52532497_52532498insG	ENST00000242839.4	-	8	2460_2461	c.2304_2305insC	c.(2302-2307)cctgctfs	p.A769fs	ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000400366.3_Frame_Shift_Ins_p.A658fs|ATP7B_ENST00000417240.2_Frame_Shift_Ins_p.A41fs|ATP7B_ENST00000418097.2_Frame_Shift_Ins_p.A769fs|ATP7B_ENST00000448424.2_Intron|ATP7B_ENST00000344297.5_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	769			M -> I (in WD).|M -> R (in WD).|M -> V (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ACAAAGAGCATGGGGGGCGTGT	0.520									Wilson disease				12	833	---	---	---	---					
MBNL2	10150	broad.mit.edu	37	13	97928603	97928604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr13:97928603_97928604insC	ENST00000345429.6	+	2	895_896	c.114_115insC	c.(112-117)caccccfs	p.HP38fs	MBNL2_ENST00000397601.1_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000376673.3_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000343600.4_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000445661.2_Frame_Shift_Ins_p.HP38fs	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	38					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			AATTTGCTCATCCCCCCAAAAG	0.411													7	406	---	---	---	---					
OR4N5	390437	broad.mit.edu	37	14	20612063	20612064	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	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													9	1086	---	---	---	---					
SALL2	6297	broad.mit.edu	37	14	21992275	21992276	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr14:21992275_21992276insG	ENST00000327430.3	-	2	1880_1881	c.1586_1587insC	c.(1585-1587)cggfs	p.R529fs	SALL2_ENST00000450879.2_Frame_Shift_Ins_p.R392fs|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	529							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)		CCTCACTCCCTGGGGGGGTGTT	0.530													9	196	---	---	---	---					
OR10G2	26534	broad.mit.edu	37	14	22102924	22102925	+	Frame_Shift_Ins	INS	-	-	G	rs150140072		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr14:22102924_22102925insG	ENST00000542433.1	-	1	171_172	c.74_75insC	c.(73-75)caafs	p.Q25fs		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TTCTTAGATTTGGGGGGTGAGA	0.480													7	367	---	---	---	---					
MED6	10001	broad.mit.edu	37	14	71051554	71051555	+	Frame_Shift_Ins	INS	-	-	G	rs145634622	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr14:71051554_71051555insG	ENST00000256379.5	-	8	745_746	c.716_717insC	c.(715-717)cgafs	p.R239fs	MED6_ENST00000440435.2_3'UTR|MED6_ENST00000430055.2_Frame_Shift_Ins_p.R246fs|MED6_ENST00000554963.1_Frame_Shift_Ins_p.R239fs	NM_005466.2	NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	239					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity	p.E240fs*1(1)		large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		TCCGTTTTTCAGGGGGGCCTTT	0.450													7	1045	---	---	---	---					
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	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													17	498	---	---	---	---					
RYR3	6263	broad.mit.edu	37	15	34015000	34015001	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr15:34015000_34015001insG	ENST00000389232.4	+	44	6774_6775	c.6704_6705insG	c.(6703-6705)gggfs	p.G2235fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.G2235fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2235	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGCGGGGTGAGGGGGGAAACG	0.584													8	383	---	---	---	---					
BMF	90427	broad.mit.edu	37	15	40396470	40396471	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr15:40396470_40396471insG	ENST00000354670.4	-	4	597_598	c.363_364insC	c.(361-366)ccaaggfs	p.R122fs	BMF_ENST00000561360.1_Frame_Shift_Ins_p.R122fs|BMF_ENST00000561282.1_Frame_Shift_Ins_p.R122fs|BMF_ENST00000559701.1_Intron|BMF_ENST00000220446.4_Intron|BMF_ENST00000558774.1_Intron|BMF_ENST00000431415.3_Frame_Shift_Ins_p.R122fs|BMF_ENST00000397573.1_Frame_Shift_Ins_p.R122fs	NM_001003940.1	NP_001003940.1	Q96LC9	BMF_HUMAN	Bcl2 modifying factor	122					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|mitochondrial outer membrane|myosin complex|plasma membrane	protein binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		CACTGCCCTTCGGGGGGCTGCT	0.569													8	222	---	---	---	---					
UACA	55075	broad.mit.edu	37	15	70959371	70959372	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr15:70959371_70959372insT	ENST00000322954.6	-	16	3836_3837	c.3651_3652insA	c.(3649-3654)aatagafs	p.NR1217fs	UACA_ENST00000539319.1_Frame_Shift_Ins_p.NR1108fs|UACA_ENST00000560441.1_Frame_Shift_Ins_p.NR1202fs|UACA_ENST00000379983.2_Frame_Shift_Ins_p.NR1204fs	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1217						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTAGTCTCTAATTTTTTTAATG	0.347													8	263	---	---	---	---					
IGF1R	3480	broad.mit.edu	37	15	99251108	99251109	+	Frame_Shift_Ins	INS	-	-	G	rs121912426		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr15:99251108_99251109insG	ENST00000268035.6	+	2	1023_1024	c.412_413insG	c.(412-414)gggfs	p.G138fs	IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.G138fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	138			R -> Q (in IGF1RES; has decreased IGF1R function).		anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GAACATTACTCGGGGGGCCATC	0.510													11	321	---	---	---	---					
ATF7IP2	80063	broad.mit.edu	37	16	10574747	10574748	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr16:10574747_10574748insC	ENST00000396560.2	+	11	1788_1789	c.1561_1562insC	c.(1561-1563)cccfs	p.P521fs	ATF7IP2_ENST00000396559.1_Frame_Shift_Ins_p.YP498fs|ATF7IP2_ENST00000356427.2_Frame_Shift_Ins_p.P521fs|ATF7IP2_ENST00000324570.5_Frame_Shift_Ins_p.YP498fs|ATF7IP2_ENST00000543967.1_Frame_Shift_Ins_p.P65fs	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						AAGTCCAGTATCCCCCCTGGAG	0.406													7	743	---	---	---	---					
CIITA	4261	broad.mit.edu	37	16	10995899	10995900	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr16:10995899_10995900insC	ENST00000324288.8	+	7	619_620	c.486_487insC	c.(484-489)gaccccfs	p.DP162fs	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	162					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCACAGCTGAGCCCCCCACTGT	0.634			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								7	536	---	---	---	---					
SNX29	92017	broad.mit.edu	37	16	12162916	12162917	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr16:12162916_12162917insC	ENST00000566228.1	+	10	1315_1316	c.1246_1247insC	c.(1246-1248)cccfs	p.P416fs	SNX29_ENST00000306030.3_Frame_Shift_Ins_p.P31fs|SNX29_ENST00000323433.4_Frame_Shift_Ins_p.P31fs	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	31					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CTGCACAGATGCCCCCCTCGGA	0.495													7	651	---	---	---	---					
ABCC1	4363	broad.mit.edu	37	16	16208660	16208661	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr16:16208660_16208661insG	ENST00000399408.2	+	24	3322_3323	c.3147_3148insG	c.(3145-3150)atggggfs	p.MG1049fs	ABCC1_ENST00000349029.5_Frame_Shift_Ins_p.MG924fs|ABCC1_ENST00000351154.5_Frame_Shift_Ins_p.MG980fs|ABCC1_ENST00000345148.5_Frame_Shift_Ins_p.MG1039fs|ABCC1_ENST00000399410.3_Frame_Shift_Ins_p.MG1039fs|ABCC1_ENST00000346370.5_Frame_Shift_Ins_p.MG983fs			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1039	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CCGTGTCCATCGGGGGGATCTT	0.604													7	173	---	---	---	---					
ACSM5	54988	broad.mit.edu	37	16	20429391	20429392	+	Frame_Shift_Ins	INS	-	-	C	rs149315908	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr16:20429391_20429392insC	ENST00000331849.4	+	3	362_363	c.215_216insC	c.(214-216)cccfs	p.P72fs	ACSM5_ENST00000575584.1_Frame_Shift_Ins_p.P72fs	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	72					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GCTGGACACCGCCCCCCAAATC	0.455													7	235	---	---	---	---					
ACSM2A	123876	broad.mit.edu	37	16	20489924	20489925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr16:20489924_20489925insC	ENST00000573854.1	+	10	1320_1321	c.1206_1207insC	c.(1204-1209)ctccccfs	p.LP402fs	ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.LP323fs|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.LP174fs|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	402					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCAACGTCCTGCCCCCCGGCAC	0.505													10	426	---	---	---	---					
ACSM2B	348158	broad.mit.edu	37	16	20556547	20556548	+	Frame_Shift_Ins	INS	-	-	G	rs146499503		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr16:20556547_20556548insG	ENST00000329697.6	-	10	1380_1381	c.1212_1213insC	c.(1210-1215)ccgcacfs	p.H405fs	ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs	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													13	503	---	---	---	---					
RRN3P1	730092	broad.mit.edu	37	16	21814059	21814060	+	RNA	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr16:21814059_21814060insG	ENST00000546471.1	-	0	1607																											CCTATAACAAAGGGGGGGGAAA	0.381													7	117	---	---	---	---					
SCNN1G	6340	broad.mit.edu	37	16	23226709	23226710	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr16:23226709_23226710insC	ENST00000300061.2	+	13	2012_2013	c.1869_1870insC	c.(1867-1872)ccccccfs	p.PP623fs		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	623					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CCGGCACACCGCCCCCCAAATA	0.559													7	201	---	---	---	---					
ARHGAP17	55114	broad.mit.edu	37	16	24942179	24942180	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr16:24942179_24942180insG	ENST00000289968.6	-	19	2509_2510	c.2440_2441insC	c.(2440-2442)accfs	p.T814fs	ARHGAP17_ENST00000303665.5_Frame_Shift_Ins_p.T736fs|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	814	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		ACCAGGAGGTTGGGGGGGTGGG	0.574													12	177	---	---	---	---					
TBX6	6911	broad.mit.edu	37	16	30100077	30100078	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	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	151	---	---	---	---					
PHKG2	5261	broad.mit.edu	37	16	30768016	30768017	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr16:30768016_30768017insC	ENST00000563588.1	+	9	1146_1147	c.907_908insC	c.(907-909)cccfs	p.P303fs	PHKG2_ENST00000328273.7_Frame_Shift_Ins_p.P307fs|PHKG2_ENST00000424889.3_Frame_Shift_Ins_p.P303fs	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	303					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)			CTGGAACCTCACCCCCCGCCAG	0.629													7	144	---	---	---	---					
ZNF668	79759	broad.mit.edu	37	16	31072705	31072706	+	Frame_Shift_Ins	INS	-	-	G	rs77284397		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr16:31072705_31072706insG	ENST00000538906.1	-	3	2327_2328	c.1543_1544insC	c.(1543-1545)gttfs	p.V515fs	ZNF668_ENST00000394983.2_Frame_Shift_Ins_p.V515fs|ZNF668_ENST00000300849.4_Frame_Shift_Ins_p.V515fs|ZNF668_ENST00000535577.1_Frame_Shift_Ins_p.V515fs|ZNF668_ENST00000426488.2_Frame_Shift_Ins_p.V538fs|ZNF668_ENST00000539836.3_Frame_Shift_Ins_p.V538fs	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCACACAAACTGGGGGGGCTTC	0.663													8	143	---	---	---	---					
ITGAD	3681	broad.mit.edu	37	16	31422532	31422533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	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	840	---	---	---	---					
IGHV3OR16-12	28304	broad.mit.edu	37	16	33605430	33605431	+	RNA	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr16:33605430_33605431insG	ENST00000570121.2	+	0	99_100																											TGGCCCAGCCTGGGGGGTACCT	0.579													8	429	---	---	---	---					
NOD2	64127	broad.mit.edu	37	16	50745398	50745399	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr16:50745398_50745399insC	ENST00000300589.2	+	4	1681_1682	c.1576_1577insC	c.(1576-1578)cccfs	p.P526fs		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	526	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCTGCATGCCACCCCCCCAGAC	0.619													9	98	---	---	---	---					
KIAA0895L	653319	broad.mit.edu	37	16	67213789	67213790	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr16:67213789_67213790insC	ENST00000290881.7	-	4	1568_1569	c.642_643insG	c.(640-645)ggagctfs	p.A215fs	KIAA0895L_ENST00000561621.1_Frame_Shift_Ins_p.A215fs|KIAA0895L_ENST00000563902.1_Frame_Shift_Ins_p.A215fs|KIAA0895L_ENST00000563831.2_Intron			Q68EN5	K895L_HUMAN	KIAA0895-like	215										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GTGAGCAGCTGCCCCCCAGTGG	0.569													10	187	---	---	---	---					
CFDP1	10428	broad.mit.edu	37	16	75446448	75446449	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr16:75446448_75446449insG	ENST00000283882.3	-	3	518_519	c.386_387insC	c.(385-387)cagfs	p.Q129fs	CFDP1_ENST00000564286.1_5'UTR	NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN	craniofacial development protein 1	129	Glu-rich.				multicellular organismal development					endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						CTTGTGTACTTGGGGGCACTTT	0.455													8	2205	---	---	---	---					
PAFAH1B1	5048	broad.mit.edu	37	17	2583499	2583500	+	Frame_Shift_Ins	INS	-	-	G	rs113994201		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr17:2583499_2583500insG	ENST00000397195.5	+	10	1495_1496	c.1044_1045insG	c.(1042-1047)tcggggfs	p.SG348fs	PAFAH1B1_ENST00000397193.3_3'UTR|PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.SG143fs	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	348	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TGTTCCATTCTGGGGGGAAGTT	0.401													8	350	---	---	---	---					
WRAP53	55135	broad.mit.edu	37	17	7606714	7606715	+	Frame_Shift_Ins	INS	-	-	G	rs146634933		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr17:7606714_7606715insG	ENST00000316024.5	+	10	3905_3906	c.1557_1558insG	c.(1555-1560)tgggggfs	p.WG519fs	WRAP53_ENST00000431639.2_Frame_Shift_Ins_p.WG519fs|WRAP53_ENST00000534050.1_Frame_Shift_Ins_p.WG486fs|WRAP53_ENST00000396463.2_Frame_Shift_Ins_p.WG519fs|WRAP53_ENST00000457584.2_Frame_Shift_Ins_p.WG519fs			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	519					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						TCTGGTGGTGTGGGGGGGCGCC	0.599													8	61	---	---	---	---					
KRT17P1	147228	broad.mit.edu	37	17	16748660	16748661	+	RNA	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr17:16748660_16748661insC	ENST00000580363.1	-	0	501																				lung(4)	4						AAGAAGTGATGCCCCCTGGAGA	0.639													4	7	---	---	---	---					
EFCAB5	374786	broad.mit.edu	37	17	28384851	28384852	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr17:28384851_28384852insT	ENST00000394835.3	+	13	2715_2716	c.2523_2524insT	c.(2521-2526)tcttttfs	p.SF841fs	EFCAB5_ENST00000378738.3_Frame_Shift_Ins_p.SF841fs|EFCAB5_ENST00000394832.2_Frame_Shift_Ins_p.SF841fs|EFCAB5_ENST00000320856.5_Intron|EFCAB5_ENST00000536908.2_Frame_Shift_Ins_p.SF785fs|EFCAB5_ENST00000541045.1_Frame_Shift_Ins_p.SF498fs	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	841							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTCTCACCTCCTTTTTTAAGGA	0.406													7	459	---	---	---	---					
HNF1B	6928	broad.mit.edu	37	17	36059173	36059174	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr17:36059173_36059174insG	ENST00000225893.4	-	8	1922_1923	c.1561_1562insC	c.(1561-1563)gtafs	p.V521fs	HNF1B_ENST00000561193.1_Frame_Shift_Ins_p.V495fs|HNF1B_ENST00000560016.1_Intron|HNF1B_ENST00000427275.2_Intron	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	521					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTGGGAATACTGGGGGGGTTCC	0.515													8	181	---	---	---	---					
DHX8	1659	broad.mit.edu	37	17	41570235	41570236	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr17:41570235_41570236insC	ENST00000262415.3	+	6	762_763	c.690_691insC	c.(688-693)agccccfs	p.SP230fs	DHX8_ENST00000540306.1_Frame_Shift_Ins_p.SP230fs	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	230						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GGAGTCAGAGTCCCCCCAAAGA	0.569													7	324	---	---	---	---					
RNF43	54894	broad.mit.edu	37	17	56435160	56435161	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr17:56435160_56435161insC	ENST00000584437.1	-	8	3931_3932	c.1976_1977insG	c.(1975-1977)gccfs	p.A659fs	RNF43_ENST00000583753.1_Frame_Shift_Ins_p.A618fs|RNF43_ENST00000407977.2_Frame_Shift_Ins_p.A659fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Frame_Shift_Ins_p.A532fs|RNF43_ENST00000577716.1_Frame_Shift_Ins_p.A659fs|RNF43_ENST00000500597.2_Frame_Shift_Ins_p.A618fs|RNF43_ENST00000577625.1_Frame_Shift_Ins_p.A532fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCCT	0.599													7	190	---	---	---	---					
MARCH10	162333	broad.mit.edu	37	17	60814265	60814266	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr17:60814265_60814266insC	ENST00000544856.2	-	7	1338_1339	c.960_961insG	c.(958-963)ggcatcfs	p.I321fs	RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	322							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGGGTCGATGTCCCCCCAAATC	0.460													10	961	---	---	---	---					
ESCO1	114799	broad.mit.edu	37	18	19154416	19154417	+	In_Frame_Ins	INS	-	-	CAA	rs76680119		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr18:19154416_19154417insCAA	ENST00000269214.5	-	4	1325_1326	c.388_389insTTG	c.(388-390)ggt>TTGggt	p.129_130insL		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	129					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TCTTGAAACCTCTGTTAATTGT	0.366													9	721	---	---	---	---					
ZBTB7C	201501	broad.mit.edu	37	18	45567075	45567076	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr18:45567075_45567076insC	ENST00000588982.1	-	3	904_905	c.403_404insG	c.(403-405)ggafs	p.G135fs	ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.G135fs			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	135	Asp-rich.|Glu-rich.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						gtcatcctcctcccccccgtcc	0.574													8	64	---	---	---	---					
ZNF443	10224	broad.mit.edu	37	19	12542363	12542364	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr19:12542363_12542364insA	ENST00000301547.5	-	4	819_820	c.622_623insT	c.(622-624)gccfs	p.A208fs	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	208					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TAAACTGGGCCAAAAAAACGCT	0.406													10	609	---	---	---	---					
OR7C1	26664	broad.mit.edu	37	19	14910413	14910414	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr19:14910413_14910414insA	ENST00000248073.2	-	1	609_610	c.535_536insT	c.(535-537)tgafs	p.*179fs	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	179					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	p.C179fs*7(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AAGTAGATCACAAAAAAAGTGT	0.475													8	602	---	---	---	---					
CPAMD8	27151	broad.mit.edu	37	19	17039883	17039884	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr19:17039883_17039884insC	ENST00000443236.1	-	24	3184_3185	c.3153_3154insG	c.(3151-3156)ggatcafs	p.S1052fs		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1005						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.H1052fs*30(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTGTTCTGATGCCCCCCCAGGA	0.584													10	118	---	---	---	---					
RYR1	6261	broad.mit.edu	37	19	38948159	38948160	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr19:38948159_38948160delTG	ENST00000355481.4	+	17	1945_1946	c.1814_1815delTG	c.(1813-1815)cfs	p.L605fs	RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000359596.3_Frame_Shift_Del_p.L605fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	605	B30.2/SPRY 1.				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)	CTATGCTCCCTGTGTGTGTGTA	0.530													17	2401	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	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													16	807	---	---	---	---					
CLASRP	11129	broad.mit.edu	37	19	45556128	45556129	+	Frame_Shift_Ins	INS	-	-	C	rs146240710		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr19:45556128_45556129insC	ENST00000544944.2	+	3	969_970	c.277_278insC	c.(277-279)cccfs	p.P93fs	CLASRP_ENST00000391953.4_Intron|CLASRP_ENST00000221455.3_Frame_Shift_Ins_p.P93fs			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													8	245	---	---	---	---					
CPT1C	126129	broad.mit.edu	37	19	50203963	50203964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr19:50203963_50203964insG	ENST00000392518.4	+	5	676_677	c.304_305insG	c.(304-306)gggfs	p.G102fs	CPT1C_ENST00000405931.2_Frame_Shift_Ins_p.G102fs|CPT1C_ENST00000323446.5_Frame_Shift_Ins_p.G102fs|CPT1C_ENST00000354199.5_Frame_Shift_Ins_p.G102fs|CPT1C_ENST00000598293.1_Frame_Shift_Ins_p.G102fs	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	102					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CCACGGGCTCCGGGGGGTCCTG	0.673													8	217	---	---	---	---					
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	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													10	219	---	---	---	---					
KIF16B	55614	broad.mit.edu	37	20	16407830	16407831	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr20:16407830_16407831insC	ENST00000354981.2	-	15	1687_1688	c.1530_1531insG	c.(1528-1533)ggcagtfs	p.S511fs	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Frame_Shift_Ins_p.S511fs|KIF16B_ENST00000408042.1_Frame_Shift_Ins_p.S511fs	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	511	FHA.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AGAGTCACTGTCCCCCCGATAT	0.431													9	582	---	---	---	---					
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	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													20	331	---	---	---	---					
NCOA6	23054	broad.mit.edu	37	20	33337505	33337506	+	Frame_Shift_Ins	INS	-	-	G	rs61754975		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr20:33337505_33337506insG	ENST00000374796.2	-	10	5062_5063	c.2492_2493insC	c.(2491-2493)ccafs	p.P831fs	NCOA6_ENST00000359003.2_Frame_Shift_Ins_p.P831fs			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	831	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CCTGCACATGAGGGGGGACCAT	0.500													7	644	---	---	---	---					
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)cccfs	p.P379fs	RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446													15	234	---	---	---	---					
SLC12A5	57468	broad.mit.edu	37	20	44680421	44680422	+	Frame_Shift_Ins	INS	-	-	G	rs138144890		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr20:44680421_44680422insG	ENST00000454036.1	+	18	2434_2435	c.2358_2359insG	c.(2356-2361)ctggggfs	p.LG786fs	SLC12A5_ENST00000243964.3_Frame_Shift_Ins_p.LG763fs	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	786					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCGGGGGCCTCGGGGGGCTGCA	0.599													7	150	---	---	---	---					
TSHZ2	128553	broad.mit.edu	37	20	51872444	51872445	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr20:51872444_51872445insC	ENST00000371497.5	+	2	3334_3335	c.2447_2448insC	c.(2446-2448)gccfs	p.A816fs	TSHZ2_ENST00000603338.2_Frame_Shift_Ins_p.A813fs|TSHZ2_ENST00000329613.6_Frame_Shift_Ins_p.A813fs	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	816					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCCTCCAGGGTCCCCCCCATGA	0.550													7	139	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)ccaaaafs	p.PK1092fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1092	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406													13	969	---	---	---	---					
TSPEAR	54084	broad.mit.edu	37	21	45987772	45987773	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr21:45987772_45987773insG	ENST00000323084.4	-	2	264_265	c.199_200insC	c.(199-201)cacfs	p.H67fs	TSPEAR_ENST00000397916.1_5'UTR	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	67					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GCTCATGGTGCGGGGGGCGGCT	0.564													7	214	---	---	---	---					
SERPIND1	3053	broad.mit.edu	37	22	21138419	21138420	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr22:21138419_21138420insG	ENST00000215727.5	+	3	1332_1333	c.1049_1050insG	c.(1048-1050)gggfs	p.G350fs	SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.G350fs|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	350					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CTGGAATACGTGGGGGGCATCA	0.540											OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	678	---	---	---	---					
P2RX6P	440799	broad.mit.edu	37	22	21399220	21399221	+	RNA	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr22:21399220_21399221insC	ENST00000439119.1	-	0	51					NR_002829.1																						TCTGCAGGGCGCCCCCCCACCA	0.599													12	191	---	---	---	---					
ZNF280A	129025	broad.mit.edu	37	22	22869526	22869527	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr22:22869526_22869527insG	ENST00000302097.3	-	2	680_681	c.428_429insC	c.(427-429)cggfs	p.R143fs		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ACTGAGTCCCTGGGGGGAGCGA	0.455													9	362	---	---	---	---					
OSBP2	23762	broad.mit.edu	37	22	31289119	31289120	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr22:31289119_31289120insC	ENST00000332585.6	+	9	1984_1985	c.1880_1881insC	c.(1879-1881)cccfs	p.P627fs	OSBP2_ENST00000496575.1_Intron|OSBP2_ENST00000407373.1_Frame_Shift_Ins_p.P454fs|OSBP2_ENST00000403222.3_Frame_Shift_Ins_p.P461fs|OSBP2_ENST00000446658.2_Frame_Shift_Ins_p.P626fs|OSBP2_ENST00000437268.2_Frame_Shift_Ins_p.P369fs|OSBP2_ENST00000382310.3_Frame_Shift_Ins_p.P578fs|OSBP2_ENST00000535268.1_Frame_Shift_Ins_p.P171fs|OSBP2_ENST00000401475.1_Frame_Shift_Ins_p.P260fs	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	627					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GTGAGCCACCACCCCCCCTCAG	0.594													7	93	---	---	---	---					
HMGXB4	10042	broad.mit.edu	37	22	35679956	35679957	+	Splice_Site	INS	-	-	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr22:35679956_35679957insA	ENST00000216106.5	+	6	1345_1346	c.1215_splice	c.e6-1	p.Q406_splice	HMGXB4_ENST00000444518.2_Splice_Site_p.Q297_splice	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	406					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CGGCATTAGCCAAAAAAGAAGA	0.406													7	285	---	---	---	---					
DDX17	10521	broad.mit.edu	37	22	38895454	38895455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	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													11	272	---	---	---	---					
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr22:47188443_47188444insC	ENST00000337137.4	+	2	255_256	c.89_90insC	c.(88-90)cccfs	p.P30fs	TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs|TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000472791.1_3'UTR	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	30						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGTGCCCAGCACCCCCCCTTTG	0.569													26	527	---	---	---	---					
ALG12	79087	broad.mit.edu	37	22	50297990	50297991	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr22:50297990_50297991insG	ENST00000330817.5	-	8	1429_1430	c.1156_1157insC	c.(1156-1158)gacfs	p.D386fs		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	386					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CCCACCTGTCTGGGGGGGCACC	0.644													7	74	---	---	---	---					
CHDC2	286464	broad.mit.edu	37	X	36122660	36122661	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chrX:36122660_36122661insC	ENST00000378660.1	+	8	1085_1086	c.897_898insC	c.(895-900)atccccfs	p.IP299fs	CHDC2_ENST00000313548.4_Frame_Shift_Ins_p.IP299fs					calponin homology domain containing 2																		GCAATAATATGCCCCCCATATG	0.351													9	522	---	---	---	---					
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	Frame_Shift_Ins	INS	-	-	G	rs41305745	by1000genomes	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	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	595	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	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													13	1183	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495													22	732	---	---	---	---					
IL2RG	3561	broad.mit.edu	37	X	70327613	70327614	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chrX:70327613_70327614insG	ENST00000374202.2	-	8	1173_1174	c.1082_1083insC	c.(1081-1083)ctgfs	p.L361fs	IL2RG_ENST00000374188.3_Frame_Shift_Ins_p.L90fs|IL2RG_ENST00000456850.2_Frame_Shift_Ins_p.L171fs	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	361					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GGGTGTAACATGGGGGGGCCCA	0.584									Severe Combined Immunodeficiency, X-linked				9	103	---	---	---	---					
KIAA2022	340533	broad.mit.edu	37	X	73963268	73963269	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chrX:73963268_73963269insC	ENST00000373468.1	-	3	1774_1775	c.1123_1124insG	c.(1123-1125)ggafs	p.G375fs	KIAA2022_ENST00000055682.5_Frame_Shift_Ins_p.G375fs			Q5QGS0	K2022_HUMAN	KIAA2022	375					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTATCTTCCTCCCCCCAGATG	0.475													18	933	---	---	---	---					
ARMCX3	51566	broad.mit.edu	37	X	100880152	100880154	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chrX:100880152_100880154delTGA	ENST00000341189.4	+	5	1049_1051	c.183_185delTGA	c.(181-186)tct>tc	p.SD61del	ARMCX3_ENST00000537169.1_In_Frame_Del_p.SD61del|ARMCX3_ENST00000471229.2_In_Frame_Del_p.SD61del	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	61						integral to membrane	binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						ATGACTGGTCTGATGATGATGAT	0.517													8	1363	---	---	---	---					
GPRASP1	9737	broad.mit.edu	37	X	101912087	101912088	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chrX:101912087_101912088insG	ENST00000537097.1	+	6	4059_4060	c.3246_3247insG	c.(3244-3249)ttggggfs	p.LG1082fs	GPRASP1_ENST00000361600.5_Frame_Shift_Ins_p.LG1082fs|GPRASP1_ENST00000444152.1_Frame_Shift_Ins_p.LG1082fs|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Frame_Shift_Ins_p.LG1082fs	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1082	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GTGAAATGTTTGGGGGCAAACC	0.485													8	1084	---	---	---	---					
RAB40AL	282808	broad.mit.edu	37	X	102192383	102192384	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chrX:102192383_102192384insG	ENST00000218249.5	+	1	184_185	c.137_138insG	c.(136-138)cggfs	p.R46fs		NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	46					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						TACAGTCACCTGGGGGGAATCG	0.599													8	586	---	---	---	---					
PLAC1	10761	broad.mit.edu	37	X	133700357	133700358	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chrX:133700357_133700358insG	ENST00000359237.4	-	3	640_641	c.355_356insC	c.(355-357)aaafs	p.K119fs	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN	placenta-specific 1	119					placenta development	extracellular region				large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TGGGGACTTTTGGGGGGCAGCA	0.530													9	394	---	---	---	---					
GPR112	139378	broad.mit.edu	37	X	135426885	135426886	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chrX:135426885_135426886insA	ENST00000394143.1	+	6	1311_1312	c.1020_1021insA	c.(1018-1023)ataaaafs	p.IK340fs	GPR112_ENST00000287534.4_Frame_Shift_Ins_p.IK277fs|GPR112_ENST00000412101.1_Frame_Shift_Ins_p.IK135fs|GPR112_ENST00000394141.1_Frame_Shift_Ins_p.IK135fs|GPR112_ENST00000370652.1_Frame_Shift_Ins_p.IK340fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	340					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCAATTCCATGAAAAAAACGAA	0.386													8	1038	---	---	---	---					
F8	2157	broad.mit.edu	37	X	154158194	154158195	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chrX:154158194_154158195insT	ENST00000360256.4	-	14	4070_4071	c.3870_3871insA	c.(3868-3873)aagggafs	p.KG1290fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1290	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCTTCCTCCCCTTTTTTTGAGA	0.381													8	518	---	---	---	---					
CROCCP3	114819	broad.mit.edu	37	1	16810034	16810034	+	RNA	DEL	C	C	-			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:16810034delC	ENST00000263511.4	-	0	1804					NR_023386.1																						GCCTCCAGAGCCCACCTACTC	0.657													9	5	---	---	---	---					
NAV1	89796	broad.mit.edu	37	1	201617945	201617946	+	In_Frame_Ins	INS	-	-	CGG			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr1:201617945_201617946insCGG	ENST00000367296.4	+	1	569_570	c.149_150insCGG	c.(148-150)cgg>cCGGgg	p.50_50R>PG	NAV1_ENST00000367302.1_In_Frame_Ins_p.63_63R>PG|NAV1_ENST00000295624.6_In_Frame_Ins_p.50_50R>PG|NAV1_ENST00000367300.3_In_Frame_Ins_p.50_50R>PG|NAV1_ENST00000367297.4_In_Frame_Ins_p.50_50R>PG	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	50					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						gccaaggcgcccggcggcggcg	0.782													16	9	---	---	---	---					
POLG	5428	broad.mit.edu	37	15	89876827	89876828	+	In_Frame_Ins	INS	-	-	TGC	rs41550117		TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr15:89876827_89876828insTGC	ENST00000268124.5	-	2	491_492	c.158_159insGCA	c.(157-159)cca>cGCAca	p.53_53P>RT	POLG_ENST00000442287.2_In_Frame_Ins_p.53_53P>RT	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	53	Poly-Gln.				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			gaggctgctgttgctgctgctg	0.693								DNA polymerases (catalytic subunits)					14	22	---	---	---	---					
FAM174B	400451	broad.mit.edu	37	15	93198679	93198684	+	In_Frame_Del	DEL	TGGAGC	TGGAGC	-	rs66488707		TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr15:93198679_93198684delTGGAGC	ENST00000327355.5	-	1	504_509	c.206_211delGCTCCA	c.(205-213)aac>a	p.SSN69del		NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	69						integral to membrane				endometrium(2)|lung(1)	3						CCACTGCTGTTGGAGCTGGAGCTGCC	0.714													5	4	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	by1000genomes	TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gct>g	p.VA777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682).		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635													7	157	---	---	---	---					
HCN2	610	broad.mit.edu	37	19	615947	615955	+	In_Frame_Del	DEL	CCGCCGCCG	CCGCCGCCG	-			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	10777517-8f71-4a8c-9e8b-bad4727f58f5	g.chr19:615947_615955delCCGCCGCCG	ENST00000251287.2	+	8	2196_2204	c.2143_2151delCCGCCGCCG	c.(2143-2151)del	p.PPP718del	AC005559.2_ENST00000591847.1_RNA	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	718	Pro-rich.				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCCTCTTCccgccgccgccgccgccgc	0.708													9	28	---	---	---	---					
UBE4B	10277	broad.mit.edu	37	1	10190856	10190877	+	Splice_Site	DEL	CTTAGAGCTCGGAAGGGTAAGT	CTTAGAGCTCGGAAGGGTAAGT	-	rs141707832		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr1:10190856_10190877delCTTAGAGCTCGGAAGGGTAAGT	ENST00000377157.3	+	13	2222_2237	c.1176_splice	c.e13+1	p.387_splice	UBE4B_ENST00000343090.6_Splice_Site_p.632_splice|UBE4B_ENST00000475795.1_3'UTR|UBE4B_ENST00000253251.8_Splice_Site_p.503_splice	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	632					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TGCAGCATTACTTAGAGCTCGGAAGGGTAAGTGTTCAGAAAA	0.423													8	260	---	---	---	---					
NBPF3	84224	broad.mit.edu	37	1	21804665	21804666	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr1:21804665_21804666insC	ENST00000318220.6	+	12	1901_1902	c.853_854insC	c.(853-855)cccfs	p.P285fs	NBPF3_ENST00000454000.2_Frame_Shift_Ins_p.P271fs|NBPF3_ENST00000342104.5_Frame_Shift_Ins_p.P366fs|NBPF3_ENST00000318249.5_Frame_Shift_Ins_p.P341fs			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	341	NBPF 1.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGAGGAGGAAGCCCCCCAGGAG	0.500													9	505	---	---	---	---					
GOLT1A	127845	broad.mit.edu	37	1	204170835	204170836	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	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													10	867	---	---	---	---					
HHAT	55733	broad.mit.edu	37	1	210560848	210560849	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr1:210560848_210560849insG	ENST00000367010.1	+	4	423_424	c.196_197insG	c.(196-198)gggfs	p.G66fs	HHAT_ENST00000545781.1_Frame_Shift_Ins_p.G3fs|HHAT_ENST00000545154.1_Frame_Shift_Ins_p.G67fs|HHAT_ENST00000308852.6_Frame_Shift_Ins_p.G21fs|HHAT_ENST00000541565.1_Frame_Shift_Ins_p.G66fs|HHAT_ENST00000537898.1_Frame_Shift_Ins_p.G66fs|HHAT_ENST00000391905.3_Frame_Shift_Ins_p.G66fs|HHAT_ENST00000261458.3_Frame_Shift_Ins_p.G66fs|HHAT_ENST00000413764.2_Frame_Shift_Ins_p.G66fs	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	66					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CTGGATGGAATGGGGGAAGCAG	0.465													7	608	---	---	---	---					
TAPT1-AS1	202020	broad.mit.edu	37	4	16257860	16257860	+	RNA	DEL	T	T	-	rs146274448		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr4:16257860delT	ENST00000570786.1	+	0	234				TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA	NR_027696.1																						AGGGTTTGTCTTTTTTTTTTT	0.383													2	4	---	---	---	---					
TBC1D1	23216	broad.mit.edu	37	4	38020014	38020014	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr4:38020014delA	ENST00000261439.4	+	4	1277	c.922delA	c.(922-924)aafs	p.K309fs	TBC1D1_ENST00000508802.1_Frame_Shift_Del_p.K309fs	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	309	PID.					nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCCTGACACCAAAAAAATAGC	0.313													8	108	---	---	---	---					
MTRR	4552	broad.mit.edu	37	5	7875405	7875406	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr5:7875405_7875406insG	ENST00000264668.2	+	4	429_430	c.399_400insG	c.(397-402)aaggggfs	p.KG133fs	MTRR_ENST00000440940.2_Frame_Shift_Ins_p.KG106fs|MTRR_ENST00000341013.6_Frame_Shift_Ins_p.R55fs|MTRR_ENST00000502509.1_3'UTR	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	133	Flavodoxin-like.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	ACTTTTGCAATGGGGGGAAGAT	0.406													7	496	---	---	---	---					
ZNF608	57507	broad.mit.edu	37	5	123984683	123984684	+	Frame_Shift_Ins	INS	-	-	C	rs151227213		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr5:123984683_123984684insC	ENST00000306315.5	-	4	1828_1829	c.1393_1394insG	c.(1393-1395)caafs	p.Q465fs	ZNF608_ENST00000504926.1_Frame_Shift_Ins_p.Q38fs	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	465						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTTCCCATTGGCCCCCCCTCTG	0.629													10	179	---	---	---	---					
TCF7	6932	broad.mit.edu	37	5	133451679	133451680	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr5:133451679_133451680insC	ENST00000395029.1	+	3	591_592	c.396_397insC	c.(394-399)ccccccfs	p.PP132fs	TCF7_ENST00000395023.1_Frame_Shift_Ins_p.PP17fs|TCF7_ENST00000378560.4_Frame_Shift_Ins_p.PP17fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.PP132fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.PP132fs|TCF7_ENST00000321584.4_Frame_Shift_Ins_p.PP132fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.PP132fs|TCF7_ENST00000518915.1_Frame_Shift_Ins_p.PP17fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.PP17fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.PP17fs			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	132					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCATTACCCACCCCCCTCGGG	0.644													2	4	---	---	---	---					
BAG6	7917	broad.mit.edu	37	6	31608920	31608921	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr6:31608920_31608921insC	ENST00000404765.2	-	20	3036_3037	c.2747_2748insG	c.(2746-2748)gcafs	p.A916fs	BAG6_ENST00000362049.6_Frame_Shift_Ins_p.A880fs|BAG6_ENST00000439687.2_Frame_Shift_Ins_p.A754fs|BAG6_ENST00000375964.6_Frame_Shift_Ins_p.A886fs|BAG6_ENST00000375976.4_Frame_Shift_Ins_p.A880fs|BAG6_ENST00000211379.5_Frame_Shift_Ins_p.A880fs			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	886					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CCATCTGCTGTCCCCCCAAGCA	0.515													7	470	---	---	---	---					
AGO2	27161	broad.mit.edu	37	8	141554344	141554345	+	Frame_Shift_Ins	INS	-	-	G	rs148575703	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr8:141554344_141554345insG	ENST00000220592.5	-	14	1918_1919	c.1806_1807insC	c.(1804-1809)ccccggfs	p.R603fs	AGO2_ENST00000519980.1_Frame_Shift_Ins_p.R603fs	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		CCATCCCCGGCGGGGGGGTGAG	0.644													7	262	---	---	---	---					
KIAA2026	158358	broad.mit.edu	37	9	5968043	5968044	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr9:5968043_5968044insT	ENST00000399933.3	-	3	2186_2187	c.2187_2188insA	c.(2185-2190)aacaaafs	p.NK729fs	KIAA2026_ENST00000381461.2_Frame_Shift_Ins_p.NK729fs	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	729	Lys-rich.							p.A730fs*15(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTGTGTTTTGCTTTTTTTTTGA	0.327													3	5	---	---	---	---					
OR4D10	390197	broad.mit.edu	37	11	59245351	59245352	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr11:59245351_59245352insG	ENST00000530162.1	+	1	506_507	c.449_450insG	c.(448-450)tggfs	p.W150fs		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCTGCCTGGTTGGGGGGCTTTG	0.540													8	259	---	---	---	---					
MLF2	8079	broad.mit.edu	37	12	6860824	6860825	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr12:6860824_6860825insG	ENST00000203630.5	-	4	842_843	c.198_199insC	c.(196-201)ccttggfs	p.W67fs	MLF2_ENST00000435120.1_Frame_Shift_Ins_p.W67fs|MLF2_ENST00000539187.1_Frame_Shift_Ins_p.W67fs|MLF2_ENST00000542154.1_Frame_Shift_Ins_p.W67fs			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	67					defense response	cytoplasm|nucleus	protein binding			kidney(2)|large_intestine(3)|lung(4)	9						AGCATCCCAAAGGGGGAGACAG	0.465													7	434	---	---	---	---					
MBNL2	10150	broad.mit.edu	37	13	97928603	97928604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr13:97928603_97928604insC	ENST00000345429.6	+	2	895_896	c.114_115insC	c.(112-117)caccccfs	p.HP38fs	MBNL2_ENST00000397601.1_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000343600.4_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000445661.2_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000376673.3_Frame_Shift_Ins_p.HP38fs	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	38					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			AATTTGCTCATCCCCCCAAAAG	0.411													7	406	---	---	---	---					
UACA	55075	broad.mit.edu	37	15	70959371	70959372	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr15:70959371_70959372insT	ENST00000322954.6	-	16	3836_3837	c.3651_3652insA	c.(3649-3654)aatagafs	p.NR1217fs	UACA_ENST00000560441.1_Frame_Shift_Ins_p.NR1202fs|UACA_ENST00000539319.1_Frame_Shift_Ins_p.NR1108fs|UACA_ENST00000379983.2_Frame_Shift_Ins_p.NR1204fs	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1217						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTAGTCTCTAATTTTTTTAATG	0.347													8	263	---	---	---	---					
CHD2	1106	broad.mit.edu	37	15	93540529	93540530	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr15:93540529_93540530insG	ENST00000394196.4	+	30	4849_4850	c.3781_3782insG	c.(3781-3783)gggfs	p.G1261fs	CHD2_ENST00000557381.1_Frame_Shift_Ins_p.G1261fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1261					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGATGTAGAGTGGGGGGTGGAA	0.411													8	298	---	---	---	---					
ACSM5	54988	broad.mit.edu	37	16	20429391	20429392	+	Frame_Shift_Ins	INS	-	-	C	rs149315908	byFrequency	TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr16:20429391_20429392insC	ENST00000331849.4	+	3	362_363	c.215_216insC	c.(214-216)cccfs	p.P72fs	ACSM5_ENST00000575584.1_Frame_Shift_Ins_p.P72fs	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	72					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GCTGGACACCGCCCCCCAAATC	0.455													7	235	---	---	---	---					
RAB5C	5878	broad.mit.edu	37	17	40280704	40280705	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr17:40280704_40280705insC	ENST00000393860.3	-	4	596_597	c.280_281insG	c.(280-282)ccafs	p.P94fs	CTD-2132N18.3_ENST00000592574.1_Frame_Shift_Ins_p.P94fs|RAB5C_ENST00000346213.4_Frame_Shift_Ins_p.P94fs|RAB5C_ENST00000547517.1_Frame_Shift_Ins_p.P127fs	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	94					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GGCAGCCTGGGCCCCCCGATAG	0.530													7	295	---	---	---	---					
ESCO1	114799	broad.mit.edu	37	18	19154416	19154417	+	In_Frame_Ins	INS	-	-	CAA	rs76680119		TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr18:19154416_19154417insCAA	ENST00000269214.5	-	4	1325_1326	c.388_389insTTG	c.(388-390)ggt>TTGggt	p.129_130insL		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	129					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TCTTGAAACCTCTGTTAATTGT	0.366													9	721	---	---	---	---					
ZNF280A	129025	broad.mit.edu	37	22	22869526	22869527	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr22:22869526_22869527insG	ENST00000302097.3	-	2	680_681	c.428_429insC	c.(427-429)cggfs	p.R143fs		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ACTGAGTCCCTGGGGGGAGCGA	0.455													9	362	---	---	---	---					
HMGXB4	10042	broad.mit.edu	37	22	35679956	35679957	+	Splice_Site	INS	-	-	A			TCGA-44-2665-01A-01W-0928-08	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05fe750d-dae6-4dde-b0d6-78af7998d180	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr22:35679956_35679957insA	ENST00000216106.5	+	6	1345_1346	c.1215_splice	c.e6-1	p.Q406_splice	HMGXB4_ENST00000444518.2_Splice_Site_p.Q297_splice	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	406					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CGGCATTAGCCAAAAAAGAAGA	0.406													7	285	---	---	---	---					
LRP1B	53353	broad.mit.edu	37	2	141625833	141625833	+	Splice_Site	DEL	C	C	-			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr2:141625833delC	ENST00000389484.3	-	26	5141		c.e26-1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						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)		GAAAAGAATTCTaaaaaaaaa	0.343										TSP Lung(27;0.18)			2	4	---	---	---	---					
FAM155A	728215	broad.mit.edu	37	13	108518687	108518689	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr13:108518687_108518689delCTG	ENST00000375915.2	-	1	394_396	c.256_258delCAG	c.(256-258)del	p.Q86del		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	86	Poly-Gln.					integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						gccgctgcctctgctgctgctgc	0.719													7	56	---	---	---	---					
FAM174B	400451	broad.mit.edu	37	15	93198679	93198684	+	In_Frame_Del	DEL	TGGAGC	TGGAGC	-	rs66488707		TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr15:93198679_93198684delTGGAGC	ENST00000327355.5	-	1	504_509	c.206_211delGCTCCA	c.(205-213)aac>a	p.SSN69del		NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	69						integral to membrane				endometrium(2)|lung(1)	3						CCACTGCTGTTGGAGCTGGAGCTGCC	0.714													5	4	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													13	319	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	by1000genomes	TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gct>g	p.VA777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682).		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635													7	157	---	---	---	---					
BCRP7	100133163	broad.mit.edu	37	22	18843723	18843724	+	RNA	INS	-	-	A			TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chr22:18843723_18843724insA	ENST00000412938.1	+	0	2337																											AGGGGCACCCCACGGCCTGGAG	0.619													4	6	---	---	---	---					
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs72445954		TCGA-44-2665-01A-01D-1040-01	TCGA-44-2665-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	520db804-4c03-4a0c-9966-fc0c9f98cfec	f774e1d8-8f14-4872-86b8-74e76c724a91	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)cgc>c	p.LR23del	SRPX_ENST00000343800.6_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	6	---	---	---	---					
